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Transcription factor 4 (TCF-4) (Class B basic helix-loop-helix protein 19) (bHLHb19) (Immunoglobulin transcription factor 2) (ITF-2) (SL3-3 enhancer factor 2) (SEF-2)

 ITF2_HUMAN              Reviewed;         667 AA.
P15884; B3KT62; B3KUC0; B4DT37; B4DUG3; B7Z5M6; B7Z6Y1; G0LNT9;
G0LNU0; G0LNU1; G0LNU2; G0LNU4; G0LNU5; G0LNU8; G0LNU9; G0LNV0;
G0LNV1; G0LNV2; H3BPQ1; Q08AP2; Q08AP3; Q15439; Q15440; Q15441;
01-APR-1990, integrated into UniProtKB/Swiss-Prot.
15-DEC-1998, sequence version 3.
30-AUG-2017, entry version 188.
RecName: Full=Transcription factor 4;
Short=TCF-4;
AltName: Full=Class B basic helix-loop-helix protein 19;
Short=bHLHb19;
AltName: Full=Immunoglobulin transcription factor 2;
Short=ITF-2;
AltName: Full=SL3-3 enhancer factor 2;
Short=SEF-2;
Name=TCF4; Synonyms=BHLHB19, ITF2, SEF2;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS SEF2-1A; SEF2-1B AND SEF2-1D),
AND ALTERNATIVE SPLICING (ISOFORM SEF2-1C).
TISSUE=Thymocyte, and Thymus;
PubMed=1681116;
Corneliussen B., Thornell A., Hallberg B., Grundstroem T.;
"Helix-loop-helix transcriptional activators bind to a sequence in
glucocorticoid response elements of retrovirus enhancers.";
J. Virol. 65:6084-6093(1991).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS A-; B-DELTA; B+DELTA; C-;
C-DELTA; D-; E-; F-; G-; H-; I-; SEF2-1A; SEF2-1B AND SEF2-1D), AND
ALTERNATIVE SPLICING.
PubMed=21789225; DOI=10.1371/journal.pone.0022138;
Sepp M., Kannike K., Eesmaa A., Urb M., Timmusk T.;
"Functional diversity of human basic helix-loop-helix transcription
factor TCF4 isoforms generated by alternative 5' exon usage and
splicing.";
PLoS ONE 6:E22138-E22138(2011).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS SEF2-1A; C-; D-; F-;
11 AND 13).
TISSUE=Brain, Hippocampus, Spleen, and Teratocarcinoma;
PubMed=14702039; DOI=10.1038/ng1285;
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=16177791; DOI=10.1038/nature03983;
Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D.,
Taylor T.D., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K.,
FitzGerald M.G., Yang X., Abouelleil A., Allen N.R., Anderson S.,
Bloom T., Bugalter B., Butler J., Cook A., DeCaprio D., Engels R.,
Garber M., Gnirke A., Hafez N., Hall J.L., Norman C.H., Itoh T.,
Jaffe D.B., Kuroki Y., Lehoczky J., Lui A., Macdonald P., Mauceli E.,
Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C., Noguchi H.,
O'Leary S.B., Piqani B., Smith C.L., Talamas J.A., Topham K.,
Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R.,
Fujiyama A., Hattori M., Birren B.W., Sakaki Y., Lander E.S.;
"DNA sequence and analysis of human chromosome 18.";
Nature 437:551-555(2005).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
Venter J.C.;
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS SEF2-1B AND SEF2-1D).
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[7]
NUCLEOTIDE SEQUENCE [MRNA] OF 1-278 (ISOFORM SEF2-1A).
Gu J., Zhao M., Huang Q., Xu X., Li Y., Peng Y., Song H., Xiao H.,
Gu Y., Li N., Qian B., Liu F., Qu J., Gao X., Cheng Z., Xu Z.,
Zeng L., Xu S., Gu W., Tu Y., Jia J., Fu G., Ren S., Zhong M., Lu G.,
Yang Y., Gao G., Zhang Q., Chen S., Han Z., Chen Z.;
"MDSDCE06_MDS Homo sapiens cDNA clone MDSDCE06 5',mRNA sequence.";
Submitted (OCT-2000) to the EMBL/GenBank/DDBJ databases.
[8]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 25-48.
TISSUE=Skin fibroblast;
PubMed=9302263; DOI=10.1093/hmg/6.11.1855;
Breschel T.S., McInnis M.G., Margolis R.L., Sirugo G.,
Corneliussen B., Simpson S.G., McMahon F.J., Mackinnon D.F., Xu J.F.,
Pleasant N., Huo Y., Ashworth R.G., Grundstrom C., Grundstrom T.,
Kidd K.K., Depaulo J.R., Ross C.A.;
"A novel, heritable, expanding CTG repeat in an intron of the SEF2-1
gene on chromosome 18q21.1.";
Hum. Mol. Genet. 6:1855-1863(1997).
[9]
NUCLEOTIDE SEQUENCE [MRNA] OF 46-667 (ISOFORM SEF2-1B).
PubMed=2308860; DOI=10.1093/nar/18.3.678;
Henthorn P., McCarrick-Walmsley R., Kadesch T.;
"Sequence of the cDNA encoding ITF-2, a positive-acting transcription
factor.";
Nucleic Acids Res. 18:678-678(1990).
[10]
DISCUSSION OF SEQUENCE.
PubMed=2105528; DOI=10.1126/science.2105528;
Henthorn P., Kiledjian M., Kadesch T.;
"Two distinct transcription factors that bind the immunoglobulin
enhancer microE5/kappa 2 motif.";
Science 247:467-470(1990).
[11]
DOMAIN.
PubMed=17467953; DOI=10.1016/j.ygeno.2007.02.003;
Piskacek S., Gregor M., Nemethova M., Grabner M., Kovarik P.,
Piskacek M.;
"Nine-amino-acid transactivation domain: establishment and prediction
utilities.";
Genomics 89:756-768(2007).
[12]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-515, AND IDENTIFICATION
BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
PubMed=21406692; DOI=10.1126/scisignal.2001570;
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J.,
Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V.,
Blagoev B.;
"System-wide temporal characterization of the proteome and
phosphoproteome of human embryonic stem cell differentiation.";
Sci. Signal. 4:RS3-RS3(2011).
[13]
SUBCELLULAR LOCATION, AND CHARACTERIZATION OF VARIANTS PTHS VAL-358;
GLY-535; PRO-574; TRP-576 AND VAL-610.
PubMed=22777675; DOI=10.1002/humu.22160;
Forrest M., Chapman R.M., Doyle A.M., Tinsley C.L., Waite A.,
Blake D.J.;
"Functional analysis of TCF4 missense mutations that cause Pitt-
Hopkins syndrome.";
Hum. Mutat. 33:1676-1686(2012).
[14]
INTERACTION WITH AGBL1.
PubMed=24094747; DOI=10.1016/j.ajhg.2013.08.010;
Riazuddin S.A., Vasanth S., Katsanis N., Gottsch J.D.;
"Mutations in AGBL1 cause dominant late-onset Fuchs corneal dystrophy
and alter protein-protein interaction with TCF4.";
Am. J. Hum. Genet. 93:758-764(2013).
[15]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-66; SER-87 AND SER-92,
AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Erythroleukemia;
PubMed=23186163; DOI=10.1021/pr300630k;
Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
Mohammed S.;
"Toward a comprehensive characterization of a human cancer cell
phosphoproteome.";
J. Proteome Res. 12:260-271(2013).
[16]
INTERACTION WITH BHLHA9.
PubMed=25466284; DOI=10.1016/j.ajhg.2014.10.012;
Malik S., Percin F.E., Bornholdt D., Albrecht B., Percesepe A.,
Koch M.C., Landi A., Fritz B., Khan R., Mumtaz S., Akarsu N.A.,
Grzeschik K.H.;
"Mutations affecting the BHLHA9 DNA-binding domain cause MSSD,
mesoaxial synostotic syndactyly with phalangeal reduction, Malik-
Percin type.";
Am. J. Hum. Genet. 95:649-659(2014).
[17]
INVOLVEMENT IN FECD3.
PubMed=24255041; DOI=10.1167/iovs.13-12611;
Mootha V.V., Gong X., Ku H.C., Xing C.;
"Association and familial segregation of CTG18.1 trinucleotide repeat
expansion of TCF4 gene in Fuchs' endothelial corneal dystrophy.";
Invest. Ophthalmol. Vis. Sci. 55:33-42(2014).
[18]
INVOLVEMENT IN FECD3.
PubMed=25168903; DOI=10.1167/iovs.14-14958;
Wieben E.D., Aleff R.A., Eckloff B.W., Atkinson E.J., Baheti S.,
Middha S., Brown W.L., Patel S.V., Kocher J.P., Baratz K.H.;
"Comprehensive assessment of genetic variants within TCF4 in Fuchs'
endothelial corneal dystrophy.";
Invest. Ophthalmol. Vis. Sci. 55:6101-6107(2014).
[19]
INVOLVEMENT IN FECD3.
PubMed=25593321; DOI=10.1074/jbc.M114.621607;
Du J., Aleff R.A., Soragni E., Kalari K., Nie J., Tang X., Davila J.,
Kocher J.P., Patel S.V., Gottesfeld J.M., Baratz K.H., Wieben E.D.;
"RNA toxicity and missplicing in the common eye disease fuchs
endothelial corneal dystrophy.";
J. Biol. Chem. 290:5979-5990(2015).
[20]
VARIANTS PTHS TRP-576 AND GLN-576.
PubMed=17436254; DOI=10.1086/515582;
Amiel J., Rio M., de Pontual L., Redon R., Malan V., Boddaert N.,
Plouin P., Carter N.P., Lyonnet S., Munnich A., Colleaux L.;
"Mutations in TCF4, encoding a class I basic helix-loop-helix
transcription factor, are responsible for Pitt-Hopkins syndrome, a
severe epileptic encephalopathy associated with autonomic
dysfunction.";
Am. J. Hum. Genet. 80:988-993(2007).
[21]
VARIANT PTHS TRP-576.
PubMed=17436255; DOI=10.1086/515583;
Zweier C., Peippo M.M., Hoyer J., Sousa S., Bottani A.,
Clayton-Smith J., Reardon W., Saraiva J., Cabral A., Goehring I.,
Devriendt K., de Ravel T., Bijlsma E.K., Hennekam R.C.M., Orrico A.,
Cohen M., Dreweke A., Reis A., Nuernberg P., Rauch A.;
"Haploinsufficiency of TCF4 causes syndromal mental retardation with
intermittent hyperventilation (Pitt-Hopkins syndrome).";
Am. J. Hum. Genet. 80:994-1001(2007).
[22]
VARIANTS PTHS VAL-358; PRO-574 AND HIS-578.
PubMed=18728071; DOI=10.1136/jmg.2008.060129;
Zweier C., Sticht H., Bijlsma E.K., Clayton-Smith J., Boonen S.E.,
Fryer A., Greally M.T., Hoffmann L., den Hollander N.S., Jongmans M.,
Kant S.G., King M.D., Lynch S.A., McKee S., Midro A.T., Park S.M.,
Ricotti V., Tarantino E., Wessels M., Peippo M., Rauch A.;
"Further delineation of Pitt-Hopkins syndrome: phenotypic and
genotypic description of 16 novel patients.";
J. Med. Genet. 45:738-744(2008).
[23]
VARIANTS PTHS GLY-535; GLY-572; GLN-576 AND VAL-610, AND
CHARACTERIZATION OF VARIANTS PTHS GLY-535; GLY-572; GLN-576 AND
VAL-610.
PubMed=19235238; DOI=10.1002/humu.20935;
de Pontual L., Mathieu Y., Golzio C., Rio M., Malan V., Boddaert N.,
Soufflet C., Picard C., Durandy A., Dobbie A., Heron D., Isidor B.,
Motte J., Newburry-Ecob R., Pasquier L., Tardieu M., Viot G.,
Jaubert F., Munnich A., Colleaux L., Vekemans M., Etchevers H.,
Lyonnet S., Amiel J.;
"Mutational, functional, and expression studies of the TCF4 gene in
Pitt-Hopkins syndrome.";
Hum. Mutat. 30:669-676(2009).
[24]
VARIANT PTHS PRO-578.
PubMed=20184619; DOI=10.1111/j.1399-0004.2010.01380.x;
Takano K., Lyons M., Moyes C., Jones J., Schwartz C.E.;
"Two percent of patients suspected of having Angelman syndrome have
TCF4 mutations.";
Clin. Genet. 78:282-288(2010).
[25]
VARIANTS PTHS TRP-565; GLY-572; GLN-572; HIS-574; PRO-574; TRP-576;
GLN-576; PRO-578; PRO-583 AND VAL-610.
PubMed=22045651; DOI=10.1002/humu.21639;
Whalen S., Heron D., Gaillon T., Moldovan O., Rossi M., Devillard F.,
Giuliano F., Soares G., Mathieu-Dramard M., Afenjar A., Charles P.,
Mignot C., Burglen L., Van Maldergem L., Piard J., Aftimos S.,
Mancini G., Dias P., Philip N., Goldenberg A., Le Merrer M., Rio M.,
Josifova D., Van Hagen J.M., Lacombe D., Edery P., Dupuis-Girod S.,
Putoux A., Sanlaville D., Fischer R., Drevillon L., Briand-Suleau A.,
Metay C., Goossens M., Amiel J., Jacquette A., Giurgea I.;
"Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome:
clinical score and further delineation of the TCF4 mutational
spectrum.";
Hum. Mutat. 33:64-72(2012).
[26]
VARIANT PTHS 385-ARG--MET-667 DEL.
PubMed=25356899; DOI=10.1371/journal.pgen.1004772;
Hamdan F.F., Srour M., Capo-Chichi J.M., Daoud H., Nassif C.,
Patry L., Massicotte C., Ambalavanan A., Spiegelman D., Diallo O.,
Henrion E., Dionne-Laporte A., Fougerat A., Pshezhetsky A.V.,
Venkateswaran S., Rouleau G.A., Michaud J.L.;
"De novo mutations in moderate or severe intellectual disability.";
PLoS Genet. 10:E1004772-E1004772(2014).
-!- FUNCTION: Transcription factor that binds to the immunoglobulin
enchancer Mu-E5/KE5-motif. Involved in the initiation of neuronal
differentiation. Activates transcription by binding to the E box
(5'-CANNTG-3'). Binds to the E-box present in the somatostatin
receptor 2 initiator element (SSTR2-INR) to activate transcription
(By similarity). Preferentially binds to either 5'-ACANNTGT-3' or
5'-CCANNTGG-3'. {ECO:0000250}.
-!- SUBUNIT: Efficient DNA binding requires dimerization with another
bHLH protein. Forms homo- or heterooligomers with myogenin.
Interacts with HIVEP2. Interacts with NEUROD2 (By similarity).
Interacts with AGBL1. Interacts with BHLHA9. {ECO:0000250,
ECO:0000269|PubMed:24094747, ECO:0000269|PubMed:25466284}.
-!- INTERACTION:
Self; NbExp=3; IntAct=EBI-533224, EBI-533224;
Q53FW8:-; NbExp=3; IntAct=EBI-533224, EBI-10242473;
Q08117:AES; NbExp=3; IntAct=EBI-533224, EBI-717810;
Q9NXW9:ALKBH4; NbExp=4; IntAct=EBI-13636688, EBI-8637516;
P29972:AQP1; NbExp=3; IntAct=EBI-533224, EBI-745213;
Q92888:ARHGEF1; NbExp=3; IntAct=EBI-533224, EBI-465400;
Q9H6L4:ARMC7; NbExp=3; IntAct=EBI-533224, EBI-742909;
P50553:ASCL1; NbExp=7; IntAct=EBI-533224, EBI-957042;
Q6XD76:ASCL4; NbExp=3; IntAct=EBI-533224, EBI-10254793;
Q9BZE9:ASPSCR1; NbExp=3; IntAct=EBI-533224, EBI-1993677;
P21281:ATP6V1B2; NbExp=3; IntAct=EBI-533224, EBI-4290814;
O75934:BCAS2; NbExp=3; IntAct=EBI-533224, EBI-1050106;
Q92843:BCL2L2; NbExp=3; IntAct=EBI-533224, EBI-707714;
Q9NX04:C1orf109; NbExp=3; IntAct=EBI-533224, EBI-8643161;
Q9NP86:CABP5; NbExp=3; IntAct=EBI-533224, EBI-10311131;
P38936:CDKN1A; NbExp=3; IntAct=EBI-533224, EBI-375077;
P42773:CDKN2C; NbExp=3; IntAct=EBI-533224, EBI-711290;
Q6ZQR2:CFAP77; NbExp=3; IntAct=EBI-533224, EBI-10255140;
Q13111:CHAF1A; NbExp=3; IntAct=EBI-533224, EBI-1020839;
Q9Y6H1:CHCHD2; NbExp=3; IntAct=EBI-533224, EBI-2321769;
Q9UKJ5:CHIC2; NbExp=3; IntAct=EBI-533224, EBI-741528;
P61024:CKS1B; NbExp=4; IntAct=EBI-13636688, EBI-456371;
Q96FN4:CPNE2; NbExp=4; IntAct=EBI-13636688, EBI-7097057;
P35222:CTNNB1; NbExp=20; IntAct=EBI-533224, EBI-491549;
P26233:ctnnb1 (xeno); NbExp=2; IntAct=EBI-533224, EBI-7373758;
P26196:DDX6; NbExp=4; IntAct=EBI-13636688, EBI-351257;
Q9H4E7:DEF6; NbExp=3; IntAct=EBI-533224, EBI-745369;
Q9NQL9:DMRT3; NbExp=3; IntAct=EBI-533224, EBI-9679045;
Q5JVL4:EFHC1; NbExp=6; IntAct=EBI-533224, EBI-743105;
O60573:EIF4E2; NbExp=3; IntAct=EBI-533224, EBI-398610;
Q13541:EIF4EBP1; NbExp=3; IntAct=EBI-533224, EBI-74090;
Q9Y2J2-3:EPB41L3; NbExp=3; IntAct=EBI-533224, EBI-10326138;
O15197-2:EPHB6; NbExp=3; IntAct=EBI-533224, EBI-10182490;
Q9Y3B2:EXOSC1; NbExp=3; IntAct=EBI-533224, EBI-371892;
P16930:FAH; NbExp=3; IntAct=EBI-533224, EBI-4397076;
Q9BQ89:FAM110A; NbExp=4; IntAct=EBI-13636688, EBI-1752811;
Q9H5Z6:FAM124B; NbExp=3; IntAct=EBI-533224, EBI-741626;
Q5TZK3:FAM74A6; NbExp=3; IntAct=EBI-533224, EBI-10247271;
Q96RJ6:FERD3L; NbExp=3; IntAct=EBI-533224, EBI-10183007;
Q96AC1:FERMT2; NbExp=6; IntAct=EBI-533224, EBI-4399465;
Q8NFF5:FLAD1; NbExp=3; IntAct=EBI-533224, EBI-742815;
P21333-2:FLNA; NbExp=3; IntAct=EBI-533224, EBI-9641086;
O43559:FRS3; NbExp=3; IntAct=EBI-533224, EBI-725515;
P55040:GEM; NbExp=3; IntAct=EBI-533224, EBI-744104;
O76003:GLRX3; NbExp=3; IntAct=EBI-533224, EBI-374781;
P50151:GNG10; NbExp=3; IntAct=EBI-533224, EBI-10211741;
Q0D2H9:GOLGA8DP; NbExp=3; IntAct=EBI-533224, EBI-10181276;
Q08AF8:GOLGA8G; NbExp=3; IntAct=EBI-533224, EBI-10181260;
Q9H8Y8:GORASP2; NbExp=3; IntAct=EBI-533224, EBI-739467;
Q96NT3:GUCD1; NbExp=3; IntAct=EBI-533224, EBI-8293751;
P61296:HAND2; NbExp=3; IntAct=EBI-533224, EBI-10218584;
O14929:HAT1; NbExp=3; IntAct=EBI-533224, EBI-2339359;
V9HWF5:HEL-S-69p; NbExp=3; IntAct=EBI-533224, EBI-10330249;
Q9UBY9:HSPB7; NbExp=4; IntAct=EBI-13636688, EBI-739361;
P41134:ID1; NbExp=3; IntAct=EBI-533224, EBI-1215527;
Q02535:ID3; NbExp=4; IntAct=EBI-533224, EBI-1387094;
I3WAC9:INS; NbExp=3; IntAct=EBI-533224, EBI-10178524;
Q9BQ13:KCTD14; NbExp=3; IntAct=EBI-533224, EBI-10189448;
Q6P597:KLC3; NbExp=3; IntAct=EBI-533224, EBI-1643885;
Q5THT1:KLHL32; NbExp=3; IntAct=EBI-533224, EBI-10247181;
Q14847:LASP1; NbExp=3; IntAct=EBI-533224, EBI-742828;
Q96BZ8:LENG1; NbExp=3; IntAct=EBI-533224, EBI-726510;
Q8TCE9:LGALS14; NbExp=3; IntAct=EBI-533224, EBI-10274069;
P25800:LMO1; NbExp=3; IntAct=EBI-533224, EBI-8639312;
P61968:LMO4; NbExp=3; IntAct=EBI-533224, EBI-2798728;
Q9UIQ6:LNPEP; NbExp=3; IntAct=EBI-533224, EBI-2805360;
Q9UI95:MAD2L2; NbExp=3; IntAct=EBI-533224, EBI-77889;
Q96A72:MAGOHB; NbExp=3; IntAct=EBI-533224, EBI-746778;
O60336:MAPKBP1; NbExp=3; IntAct=EBI-533224, EBI-947402;
O15232:MATN3; NbExp=3; IntAct=EBI-533224, EBI-6262458;
Q9Y316:MEMO1; NbExp=3; IntAct=EBI-533224, EBI-1104564;
Q6P2C6:MLLT6; NbExp=3; IntAct=EBI-533224, EBI-5773143;
Q8NDC4:MORN4; NbExp=3; IntAct=EBI-533224, EBI-10269566;
Q96HT8:MRFAP1L1; NbExp=3; IntAct=EBI-533224, EBI-748896;
Q7Z7H8:MRPL10; NbExp=3; IntAct=EBI-533224, EBI-723524;
Q8IXL7:MSRB3; NbExp=3; IntAct=EBI-533224, EBI-8634060;
Q9ULV0:MYO5B; NbExp=3; IntAct=EBI-533224, EBI-311356;
O43639:NCK2; NbExp=3; IntAct=EBI-533224, EBI-713635;
Q9UHB4:NDOR1; NbExp=3; IntAct=EBI-533224, EBI-10249760;
Q9HC98:NEK6; NbExp=3; IntAct=EBI-533224, EBI-740364;
Q86SG6:NEK8; NbExp=3; IntAct=EBI-533224, EBI-1752987;
Q8WWR8-2:NEU4; NbExp=3; IntAct=EBI-533224, EBI-10277551;
Q92886:NEUROG1; NbExp=3; IntAct=EBI-533224, EBI-10279647;
Q9Y5B8:NME7; NbExp=3; IntAct=EBI-533224, EBI-744782;
Q9GZQ4:NMUR2; NbExp=3; IntAct=EBI-533224, EBI-10303844;
Q5SY16:NOL9; NbExp=3; IntAct=EBI-533224, EBI-1055462;
Q86WQ0:NR2C2AP; NbExp=3; IntAct=EBI-533224, EBI-10260040;
Q8NFP7:NUDT10; NbExp=3; IntAct=EBI-533224, EBI-726826;
O43929:ORC4; NbExp=3; IntAct=EBI-533224, EBI-374889;
Q9UJX0:OSGIN1; NbExp=3; IntAct=EBI-533224, EBI-9057006;
Q01804:OTUD4; NbExp=3; IntAct=EBI-533224, EBI-1054396;
Q8WXA2:PATE1; NbExp=3; IntAct=EBI-533224, EBI-10277790;
P30039:PBLD; NbExp=3; IntAct=EBI-533224, EBI-750589;
Q13526:PIN1; NbExp=3; IntAct=EBI-533224, EBI-714158;
Q494U1:PLEKHN1; NbExp=3; IntAct=EBI-533224, EBI-10241513;
O95602:POLR1A; NbExp=3; IntAct=EBI-533224, EBI-359472;
O15160:POLR1C; NbExp=3; IntAct=EBI-533224, EBI-1055079;
Q9Y3C6:PPIL1; NbExp=3; IntAct=EBI-533224, EBI-2557649;
Q6NYC8:PPP1R18; NbExp=3; IntAct=EBI-533224, EBI-2557469;
P54646:PRKAA2; NbExp=3; IntAct=EBI-533224, EBI-1383852;
P25786:PSMA1; NbExp=3; IntAct=EBI-533224, EBI-359352;
Q969U7:PSMG2; NbExp=3; IntAct=EBI-533224, EBI-723276;
P43115-12:PTGER3; NbExp=3; IntAct=EBI-533224, EBI-10234038;
Q5JT25:RAB41; NbExp=3; IntAct=EBI-533224, EBI-10244509;
P47224:RABIF; NbExp=3; IntAct=EBI-533224, EBI-713992;
Q6P9E2:RECK; NbExp=3; IntAct=EBI-533224, EBI-10253121;
Q04206-3:RELA; NbExp=3; IntAct=EBI-533224, EBI-10223388;
Q8IX06:REXO1L1P; NbExp=3; IntAct=EBI-533224, EBI-10262361;
Q9UHP6:RSPH14; NbExp=3; IntAct=EBI-533224, EBI-748350;
Q9NUL5:RYDEN; NbExp=3; IntAct=EBI-533224, EBI-10313866;
Q9UIL1:SCOC; NbExp=3; IntAct=EBI-533224, EBI-2686537;
Q9UDX3:SEC14L4; NbExp=3; IntAct=EBI-533224, EBI-10320311;
Q6NXQ0:SFRS2; NbExp=3; IntAct=EBI-533224, EBI-10251550;
Q96ES7:SGF29; NbExp=4; IntAct=EBI-533224, EBI-743117;
O43699:SIGLEC6; NbExp=3; IntAct=EBI-533224, EBI-2814604;
Q96H72:SLC39A13; NbExp=3; IntAct=EBI-533224, EBI-10287091;
Q9BWU0:SLC4A1AP; NbExp=3; IntAct=EBI-533224, EBI-1999704;
P49901:SMCP; NbExp=3; IntAct=EBI-533224, EBI-750494;
Q9H4F8:SMOC1; NbExp=3; IntAct=EBI-533224, EBI-2801103;
Q61473:Sox17 (xeno); NbExp=5; IntAct=EBI-533224, EBI-9106822;
Q06831:Sox4 (xeno); NbExp=2; IntAct=EBI-533224, EBI-6262177;
Q9H0A9:SPATC1L; NbExp=3; IntAct=EBI-533224, EBI-372911;
Q9NZD8:SPG21; NbExp=3; IntAct=EBI-533224, EBI-742688;
Q96FJ0:STAMBPL1; NbExp=3; IntAct=EBI-533224, EBI-745021;
O75716:STK16; NbExp=3; IntAct=EBI-533224, EBI-749295;
O75558:STX11; NbExp=3; IntAct=EBI-533224, EBI-714135;
Q5T011-5:SZT2; NbExp=3; IntAct=EBI-533224, EBI-10245139;
Q16559:TAL2; NbExp=3; IntAct=EBI-533224, EBI-10237959;
Q15560:TCEA2; NbExp=3; IntAct=EBI-533224, EBI-710310;
P56279:TCL1A; NbExp=3; IntAct=EBI-533224, EBI-749995;
P04637:TP53; NbExp=2; IntAct=EBI-533224, EBI-366083;
Q9UL33:TRAPPC2L; NbExp=3; IntAct=EBI-533224, EBI-747601;
Q9UL33-2:TRAPPC2L; NbExp=4; IntAct=EBI-13636688, EBI-11119202;
Q96PN8:TSSK3; NbExp=3; IntAct=EBI-533224, EBI-3918381;
Q15672:TWIST1; NbExp=3; IntAct=EBI-533224, EBI-1797287;
Q8WVJ9:TWIST2; NbExp=3; IntAct=EBI-533224, EBI-1797313;
Q9NX01:TXNL4B; NbExp=3; IntAct=EBI-533224, EBI-10309345;
Q9BRU9:UTP23; NbExp=3; IntAct=EBI-533224, EBI-5457544;
Q548N1:VPS28; NbExp=3; IntAct=EBI-533224, EBI-10243107;
Q6UX98:ZDHHC24; NbExp=3; IntAct=EBI-533224, EBI-10254561;
Q15973:ZNF124; NbExp=3; IntAct=EBI-533224, EBI-2555767;
Q8TAU3:ZNF417; NbExp=3; IntAct=EBI-533224, EBI-740727;
Q96SQ5:ZNF587; NbExp=3; IntAct=EBI-533224, EBI-6427977;
-!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-
ProRule:PRU00981, ECO:0000269|PubMed:22777675}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=16;
Comment=Additional isoforms seem to exist.;
Name=SEF2-1B; Synonyms=B-;
IsoId=P15884-1; Sequence=Displayed;
Name=SEF2-1A; Synonyms=A+;
IsoId=P15884-2; Sequence=VSP_030819, VSP_002111, VSP_002112;
Name=SEF2-1D; Synonyms=B+;
IsoId=P15884-3; Sequence=VSP_002112;
Name=B+delta;
IsoId=P15884-4; Sequence=VSP_044340, VSP_002112;
Name=B-delta;
IsoId=P15884-5; Sequence=VSP_044340;
Name=A-;
IsoId=P15884-6; Sequence=VSP_044336, VSP_044337, VSP_044340;
Name=G-;
IsoId=P15884-7; Sequence=VSP_044334, VSP_044338, VSP_044339;
Name=H-;
IsoId=P15884-8; Sequence=VSP_044335, VSP_057364;
Name=D-;
IsoId=P15884-9; Sequence=VSP_045149;
Name=F-;
IsoId=P15884-10; Sequence=VSP_045151;
Name=11;
IsoId=P15884-11; Sequence=VSP_045150, VSP_044339, VSP_002112;
Name=E-;
IsoId=P15884-12; Sequence=VSP_047082, VSP_047083;
Name=13;
IsoId=P15884-13; Sequence=VSP_047081, VSP_002112;
Name=C-;
IsoId=P15884-14; Sequence=VSP_047081;
Name=C-delta;
IsoId=P15884-15; Sequence=VSP_047081, VSP_044340;
Name=I-;
IsoId=P15884-16; Sequence=VSP_054279;
-!- TISSUE SPECIFICITY: Expressed in adult heart, brain, placenta,
skeletal muscle and to a lesser extent in the lung. In developing
embryonic tissues, expression mostly occurs in the brain.
-!- DOMAIN: the 9aaTAD motif is a transactivation domain present in a
large number of yeast and animal transcription factors.
{ECO:0000269|PubMed:17467953}.
-!- DISEASE: Pitt-Hopkins syndrome (PTHS) [MIM:610954]: A syndrome
characterized by mental retardation, wide mouth and distinctive
facial features, and intermittent hyperventilation followed by
apnea. Features include intellectual disability with severe speech
impairment, normal growth parameters at birth, postnatal
microcephaly, breathing anomalies, severe motor developmental
delay, motor incoordination, ocular anomalies, constipation,
seizures, typical behavior and subtle brain abnormalities.
{ECO:0000269|PubMed:17436254, ECO:0000269|PubMed:17436255,
ECO:0000269|PubMed:18728071, ECO:0000269|PubMed:19235238,
ECO:0000269|PubMed:20184619, ECO:0000269|PubMed:22045651,
ECO:0000269|PubMed:22777675, ECO:0000269|PubMed:25356899}.
Note=The disease is caused by mutations affecting the gene
represented in this entry.
-!- DISEASE: Corneal dystrophy, Fuchs endothelial, 3 (FECD3)
[MIM:613267]: A late-onset form of Fuchs endothelial corneal
dystrophy, a disease caused by loss of endothelium of the central
cornea. It is characterized by focal wart-like guttata that arise
from Descemet membrane and develop in the central cornea,
epithelial blisters, reduced vision and pain. Descemet membrane is
thickened by abnormal collagenous deposition.
{ECO:0000269|PubMed:24255041, ECO:0000269|PubMed:25168903,
ECO:0000269|PubMed:25593321}. Note=The disease is caused by
mutations affecting the gene represented in this entry. Causative
mutations are heterozygous TCF4 intronic trinucleotide repeat
expansions (CTG)n. {ECO:0000269|PubMed:24255041,
ECO:0000269|PubMed:25168903, ECO:0000269|PubMed:25593321}.
-!- SEQUENCE CAUTION:
Sequence=AAA60310.1; Type=Miscellaneous discrepancy; Note=Incomplete and probable erroneous sequence.; Evidence={ECO:0000305};
Sequence=AAA60312.1; Type=Miscellaneous discrepancy; Note=Incomplete and probable erroneous sequence.; Evidence={ECO:0000305};
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EMBL; M74718; AAA60310.1; ALT_SEQ; mRNA.
EMBL; M74719; AAA60311.1; -; mRNA.
EMBL; M74720; AAA60312.1; ALT_SEQ; mRNA.
EMBL; FR748210; CBY80189.1; -; mRNA.
EMBL; FR748211; CBY80190.1; -; mRNA.
EMBL; FR748212; CBY80191.1; -; mRNA.
EMBL; FR748213; CBY80192.1; -; mRNA.
EMBL; FR748214; CBY80193.1; -; mRNA.
EMBL; FR748215; CBY80194.1; -; mRNA.
EMBL; FR748216; CBY80195.1; -; mRNA.
EMBL; FR748217; CBY80196.1; -; mRNA.
EMBL; FR748218; CBY80197.1; -; mRNA.
EMBL; FR748219; CBY80198.1; -; mRNA.
EMBL; FR748220; CBY80199.1; -; mRNA.
EMBL; FR748221; CBY80200.1; -; mRNA.
EMBL; FR748222; CBY80201.1; -; mRNA.
EMBL; FR748223; CBY80202.1; -; mRNA.
EMBL; AK095041; BAG52974.1; -; mRNA.
EMBL; AK096862; BAG53382.1; -; mRNA.
EMBL; AK299169; BAH12962.1; -; mRNA.
EMBL; AK300636; BAG62325.1; -; mRNA.
EMBL; AK300038; BAG61849.1; -; mRNA.
EMBL; AK301144; BAH13417.1; -; mRNA.
EMBL; AK300612; BAH13314.1; -; mRNA.
EMBL; AK316165; BAH14536.1; -; mRNA.
EMBL; AC013587; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AC018994; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AC090383; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AC090684; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AC091103; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; CH471096; EAW63017.1; -; Genomic_DNA.
EMBL; CH471096; EAW63018.1; -; Genomic_DNA.
EMBL; BC125084; AAI25085.1; -; mRNA.
EMBL; BC125085; AAI25086.1; -; mRNA.
EMBL; AV761952; -; NOT_ANNOTATED_CDS; mRNA.
EMBL; U75701; AAC51824.1; -; Genomic_DNA.
EMBL; X52079; CAA36298.1; -; mRNA.
CCDS; CCDS11960.1; -. [P15884-1]
CCDS; CCDS42438.1; -. [P15884-3]
CCDS; CCDS58623.1; -. [P15884-8]
CCDS; CCDS58624.1; -. [P15884-2]
CCDS; CCDS58625.1; -. [P15884-6]
CCDS; CCDS58626.1; -. [P15884-9]
CCDS; CCDS58627.1; -. [P15884-11]
CCDS; CCDS58628.1; -. [P15884-10]
CCDS; CCDS58629.1; -. [P15884-13]
CCDS; CCDS59321.1; -. [P15884-12]
CCDS; CCDS77191.1; -. [P15884-7]
CCDS; CCDS77192.1; -. [P15884-14]
PIR; A41311; A41311.
RefSeq; NP_001077431.1; NM_001083962.1. [P15884-3]
RefSeq; NP_001230155.2; NM_001243226.2.
RefSeq; NP_001230156.1; NM_001243227.1. [P15884-13]
RefSeq; NP_001230157.1; NM_001243228.1.
RefSeq; NP_001230159.1; NM_001243230.1. [P15884-12]
RefSeq; NP_001230160.1; NM_001243231.1. [P15884-10]
RefSeq; NP_001230161.1; NM_001243232.1. [P15884-11]
RefSeq; NP_001230162.1; NM_001243233.1. [P15884-9]
RefSeq; NP_001230163.1; NM_001243234.1. [P15884-2]
RefSeq; NP_001230164.1; NM_001243235.1. [P15884-6]
RefSeq; NP_001230165.1; NM_001243236.1. [P15884-8]
RefSeq; NP_001293136.1; NM_001306207.1. [P15884-14]
RefSeq; NP_001293137.1; NM_001306208.1. [P15884-7]
RefSeq; NP_001335140.1; NM_001348211.1.
RefSeq; NP_001335141.1; NM_001348212.1. [P15884-9]
RefSeq; NP_001335142.1; NM_001348213.1.
RefSeq; NP_001335143.1; NM_001348214.1.
RefSeq; NP_001335144.1; NM_001348215.1.
RefSeq; NP_001335145.1; NM_001348216.1.
RefSeq; NP_001335146.1; NM_001348217.1. [P15884-13]
RefSeq; NP_001335147.1; NM_001348218.1. [P15884-13]
RefSeq; NP_001335148.1; NM_001348219.1. [P15884-14]
RefSeq; NP_001335149.1; NM_001348220.1.
RefSeq; NP_003190.1; NM_003199.2. [P15884-1]
RefSeq; XP_005266796.2; XM_005266739.3. [P15884-13]
RefSeq; XP_006722599.1; XM_006722536.2. [P15884-3]
RefSeq; XP_006722600.1; XM_006722537.2. [P15884-3]
RefSeq; XP_016881425.1; XM_017025936.1. [P15884-14]
RefSeq; XP_016881429.1; XM_017025940.1. [P15884-1]
RefSeq; XP_016881430.1; XM_017025941.1. [P15884-1]
RefSeq; XP_016881435.1; XM_017025946.1. [P15884-14]
RefSeq; XP_016881445.1; XM_017025956.1. [P15884-9]
UniGene; Hs.605153; -.
UniGene; Hs.742885; -.
PDB; 2KWF; NMR; -; B=11-27.
PDBsum; 2KWF; -.
DisProt; DP00224; -.
ProteinModelPortal; P15884; -.
SMR; P15884; -.
BioGrid; 112787; 214.
DIP; DIP-163N; -.
IntAct; P15884; 240.
MINT; MINT-4508073; -.
STRING; 9606.ENSP00000346440; -.
iPTMnet; P15884; -.
PhosphoSitePlus; P15884; -.
BioMuta; TCF4; -.
MaxQB; P15884; -.
PaxDb; P15884; -.
PeptideAtlas; P15884; -.
PRIDE; P15884; -.
Ensembl; ENST00000354452; ENSP00000346440; ENSG00000196628. [P15884-3]
Ensembl; ENST00000356073; ENSP00000348374; ENSG00000196628. [P15884-1]
Ensembl; ENST00000457482; ENSP00000409447; ENSG00000196628. [P15884-2]
Ensembl; ENST00000537578; ENSP00000440731; ENSG00000196628. [P15884-13]
Ensembl; ENST00000537856; ENSP00000439827; ENSG00000196628. [P15884-9]
Ensembl; ENST00000540999; ENSP00000445202; ENSG00000196628. [P15884-14]
Ensembl; ENST00000543082; ENSP00000439656; ENSG00000196628. [P15884-10]
Ensembl; ENST00000544241; ENSP00000441562; ENSG00000196628. [P15884-11]
Ensembl; ENST00000561831; ENSP00000457765; ENSG00000196628. [P15884-8]
Ensembl; ENST00000561992; ENSP00000455179; ENSG00000196628. [P15884-9]
Ensembl; ENST00000564228; ENSP00000455261; ENSG00000196628. [P15884-7]
Ensembl; ENST00000564999; ENSP00000457649; ENSG00000196628. [P15884-1]
Ensembl; ENST00000565018; ENSP00000455984; ENSG00000196628. [P15884-15]
Ensembl; ENST00000566279; ENSP00000456125; ENSG00000196628. [P15884-4]
Ensembl; ENST00000566286; ENSP00000455418; ENSG00000196628. [P15884-12]
Ensembl; ENST00000567880; ENSP00000454366; ENSG00000196628. [P15884-5]
Ensembl; ENST00000568673; ENSP00000455135; ENSG00000196628. [P15884-13]
Ensembl; ENST00000570177; ENSP00000454647; ENSG00000196628. [P15884-9]
Ensembl; ENST00000570287; ENSP00000455763; ENSG00000196628. [P15884-6]
Ensembl; ENST00000616053; ENSP00000478549; ENSG00000196628. [P15884-15]
Ensembl; ENST00000626584; ENSP00000486072; ENSG00000196628. [P15884-16]
Ensembl; ENST00000629387; ENSP00000486670; ENSG00000196628. [P15884-3]
Ensembl; ENST00000636400; ENSP00000490006; ENSG00000196628. [P15884-13]
GeneID; 6925; -.
KEGG; hsa:6925; -.
UCSC; uc002lfw.5; human. [P15884-1]
CTD; 6925; -.
DisGeNET; 6925; -.
GeneCards; TCF4; -.
GeneReviews; TCF4; -.
HGNC; HGNC:11634; TCF4.
HPA; CAB020722; -.
HPA; HPA025958; -.
MalaCards; TCF4; -.
MIM; 602272; gene.
MIM; 610954; phenotype.
MIM; 613267; phenotype.
neXtProt; NX_P15884; -.
OpenTargets; ENSG00000196628; -.
Orphanet; 178469; Autosomal dominant non-syndromic intellectual disability.
Orphanet; 98974; Fuchs endothelial corneal dystrophy.
Orphanet; 2896; Pitt-Hopkins syndrome.
Orphanet; 171; Primary sclerosing cholangitis.
Orphanet; 3140; Schizophrenia.
PharmGKB; PA164742621; -.
eggNOG; KOG3910; Eukaryota.
eggNOG; ENOG410XYUA; LUCA.
GeneTree; ENSGT00510000046438; -.
HOGENOM; HOG000234180; -.
HOVERGEN; HBG003854; -.
InParanoid; P15884; -.
KO; K15603; -.
PhylomeDB; P15884; -.
TreeFam; TF321672; -.
Reactome; R-HSA-375170; CDO in myogenesis.
SignaLink; P15884; -.
SIGNOR; P15884; -.
ChiTaRS; TCF4; human.
EvolutionaryTrace; P15884; -.
GeneWiki; TCF4; -.
GenomeRNAi; 6925; -.
PRO; PR:P15884; -.
Proteomes; UP000005640; Chromosome 18.
Bgee; ENSG00000196628; -.
CleanEx; HS_TCF4; -.
ExpressionAtlas; P15884; baseline and differential.
Genevisible; P15884; HS.
GO; GO:0000790; C:nuclear chromatin; IDA:ParkinsonsUK-UCL.
GO; GO:0005634; C:nucleus; IDA:UniProtKB.
GO; GO:0032993; C:protein-DNA complex; IDA:UniProtKB.
GO; GO:0005667; C:transcription factor complex; ISS:BHF-UCL.
GO; GO:0043425; F:bHLH transcription factor binding; IBA:GO_Central.
GO; GO:0003677; F:DNA binding; IDA:UniProtKB.
GO; GO:0070888; F:E-box binding; ISS:UniProtKB.
GO; GO:0042802; F:identical protein binding; IPI:IntAct.
GO; GO:0008022; F:protein C-terminus binding; IPI:UniProtKB.
GO; GO:0046982; F:protein heterodimerization activity; ISS:UniProtKB.
GO; GO:0042803; F:protein homodimerization activity; IBA:GO_Central.
GO; GO:0000978; F:RNA polymerase II core promoter proximal region sequence-specific DNA binding; IDA:UniProtKB.
GO; GO:0001093; F:TFIIB-class transcription factor binding; ISS:BHF-UCL.
GO; GO:0003700; F:transcription factor activity, sequence-specific DNA binding; IDA:UniProtKB.
GO; GO:0001011; F:transcription factor activity, sequence-specific DNA binding, RNA polymerase recruiting; ISS:BHF-UCL.
GO; GO:0001087; F:transcription factor activity, TFIIB-class binding; ISS:BHF-UCL.
GO; GO:0001077; F:transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding; ISS:BHF-UCL.
GO; GO:0006352; P:DNA-templated transcription, initiation; ISS:BHF-UCL.
GO; GO:0045666; P:positive regulation of neuron differentiation; ISS:UniProtKB.
GO; GO:0045944; P:positive regulation of transcription from RNA polymerase II promoter; ISS:BHF-UCL.
GO; GO:0045893; P:positive regulation of transcription, DNA-templated; IDA:UniProtKB.
GO; GO:0065004; P:protein-DNA complex assembly; ISS:BHF-UCL.
GO; GO:0006367; P:transcription initiation from RNA polymerase II promoter; ISS:BHF-UCL.
CDD; cd00083; HLH; 1.
Gene3D; 4.10.280.10; -; 1.
InterPro; IPR011598; bHLH_dom.
Pfam; PF00010; HLH; 1.
SMART; SM00353; HLH; 1.
SUPFAM; SSF47459; SSF47459; 1.
PROSITE; PS50888; BHLH; 1.
1: Evidence at protein level;
3D-structure; Activator; Alternative splicing; Complete proteome;
Corneal dystrophy; Differentiation; Disease mutation; DNA-binding;
Epilepsy; Mental retardation; Neurogenesis; Nucleus; Phosphoprotein;
Polymorphism; Primary microcephaly; Reference proteome; Transcription;
Transcription regulation.
CHAIN 1 667 Transcription factor 4.
/FTId=PRO_0000127256.
DOMAIN 564 617 bHLH. {ECO:0000255|PROSITE-
ProRule:PRU00981}.
REGION 1 83 Essential for MYOD1 inhibition.
{ECO:0000250}.
REGION 379 400 Leucine-zipper.
REGION 619 642 Class A specific domain.
MOTIF 18 26 9aaTAD.
COMPBIAS 228 231 Poly-Ser.
MOD_RES 66 66 Phosphoserine.
{ECO:0000244|PubMed:23186163}.
MOD_RES 87 87 Phosphoserine.
{ECO:0000244|PubMed:23186163}.
MOD_RES 92 92 Phosphoserine.
{ECO:0000244|PubMed:23186163}.
MOD_RES 372 372 Phosphoserine.
{ECO:0000250|UniProtKB:Q62655}.
MOD_RES 515 515 Phosphoserine.
{ECO:0000244|PubMed:21406692}.
VAR_SEQ 1 216 Missing (in isoform I-).
{ECO:0000303|PubMed:21789225}.
/FTId=VSP_054279.
VAR_SEQ 1 160 Missing (in isoform SEF2-1A).
{ECO:0000303|PubMed:14702039,
ECO:0000303|PubMed:1681116,
ECO:0000303|PubMed:21789225,
ECO:0000303|Ref.7}.
/FTId=VSP_030819.
VAR_SEQ 1 130 Missing (in isoform D-).
{ECO:0000303|PubMed:14702039,
ECO:0000303|PubMed:21789225}.
/FTId=VSP_045149.
VAR_SEQ 1 102 MHHQQRMAALGTDKELSDLLDFSAMFSPPVSSGKNGPTSLA
SGHFTGSNVEDRSSSGSWGNGGHPSPSRNYGDGTPYDHMTS
RDLGSHDNLSPPFVNSRIQS -> MKDIFFQFIIARVRKCY
SLSCLHTLPVVPTLR (in isoform 11).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_045150.
VAR_SEQ 1 49 MHHQQRMAALGTDKELSDLLDFSAMFSPPVSSGKNGPTSLA
SGHFTGSN -> MEEDSRD (in isoform F-).
{ECO:0000303|PubMed:14702039,
ECO:0000303|PubMed:21789225}.
/FTId=VSP_045151.
VAR_SEQ 1 32 MHHQQRMAALGTDKELSDLLDFSAMFSPPVSS -> MKDIF
FQFIIARVRKCYSLSCLHTLPVVPTLR (in isoform
G-). {ECO:0000303|PubMed:21789225}.
/FTId=VSP_044334.
VAR_SEQ 1 24 Missing (in isoform 13, isoform C- and
isoform C-delta).
{ECO:0000303|PubMed:14702039,
ECO:0000303|PubMed:21789225}.
/FTId=VSP_047081.
VAR_SEQ 1 24 MHHQQRMAALGTDKELSDLLDFSA -> MQRAKTELFRLQI
VTDDLRKNE (in isoform E-).
{ECO:0000303|PubMed:21789225}.
/FTId=VSP_047082.
VAR_SEQ 1 23 MHHQQRMAALGTDKELSDLLDFS -> MYCAYTIPGMGGNS
LMYYYNGKA (in isoform A-).
{ECO:0000303|PubMed:21789225}.
/FTId=VSP_044336.
VAR_SEQ 1 23 MHHQQRMAALGTDKELSDLLDFS -> MKFKQCRCSDTGLC
CLDHEGKAE (in isoform H-).
{ECO:0000303|PubMed:21789225}.
/FTId=VSP_044335.
VAR_SEQ 24 183 Missing (in isoform H-).
{ECO:0000303|PubMed:21789225}.
/FTId=VSP_057364.
VAR_SEQ 24 123 Missing (in isoform A-).
{ECO:0000303|PubMed:21789225}.
/FTId=VSP_044337.
VAR_SEQ 33 102 Missing (in isoform G-).
{ECO:0000303|PubMed:21789225}.
/FTId=VSP_044338.
VAR_SEQ 123 123 Missing (in isoform G- and isoform 11).
{ECO:0000303|PubMed:14702039,
ECO:0000303|PubMed:21789225}.
/FTId=VSP_044339.
VAR_SEQ 124 183 Missing (in isoform A-, isoform B-delta,
isoform B+delta and isoform C-delta).
{ECO:0000303|PubMed:21789225}.
/FTId=VSP_044340.
VAR_SEQ 161 183 LHSSAMEVQTKKVRKVPPGLPSS -> MYCAYTIPGMGGNS
LMYYYNGKA (in isoform SEF2-1A).
{ECO:0000303|PubMed:14702039,
ECO:0000303|PubMed:1681116,
ECO:0000303|PubMed:21789225,
ECO:0000303|Ref.7}.
/FTId=VSP_002111.
VAR_SEQ 357 357 Missing (in isoform E-).
{ECO:0000303|PubMed:21789225}.
/FTId=VSP_047083.
VAR_SEQ 545 545 T -> TRSRS (in isoform B+delta, isoform
SEF2-1A, isoform SEF2-1D, isoform 11 and
isoform 13).
{ECO:0000303|PubMed:14702039,
ECO:0000303|PubMed:15489334,
ECO:0000303|PubMed:1681116,
ECO:0000303|PubMed:21789225,
ECO:0000303|Ref.7}.
/FTId=VSP_002112.
VARIANT 358 358 G -> V (in PTHS; also expressed in the
nucleus with a pattern indistinguishable
from the wild-type; does not have a major
impact on homodimer formation; affects
transcriptional activity in a context-
dependent manner).
{ECO:0000269|PubMed:18728071,
ECO:0000269|PubMed:22777675}.
/FTId=VAR_066839.
VARIANT 385 667 Missing (in PTHS).
{ECO:0000269|PubMed:25356899}.
/FTId=VAR_078644.
VARIANT 450 450 M -> I (in dbSNP:rs11660217).
/FTId=VAR_049545.
VARIANT 535 535 D -> G (in PTHS; loss of function; also
expressed in the nucleus with a pattern
indistinguishable from the wild-type;
does not have a major impact on homodimer
formation; affects transcriptional
activity in a context-dependent manner).
{ECO:0000269|PubMed:19235238,
ECO:0000269|PubMed:22777675}.
/FTId=VAR_058632.
VARIANT 565 565 R -> W (in PTHS).
{ECO:0000269|PubMed:22045651}.
/FTId=VAR_066970.
VARIANT 572 572 R -> G (in PTHS; loss of function).
{ECO:0000269|PubMed:19235238,
ECO:0000269|PubMed:22045651}.
/FTId=VAR_058633.
VARIANT 572 572 R -> Q (in PTHS).
{ECO:0000269|PubMed:22045651}.
/FTId=VAR_066971.
VARIANT 574 574 R -> H (in PTHS; dbSNP:rs121909123).
{ECO:0000269|PubMed:22045651}.
/FTId=VAR_066972.
VARIANT 574 574 R -> P (in PTHS; mislocalized to small
spherical punctae that are dispersed
throughout the nucleus; can attenuate
homo- and heterodimer formation; affects
transcriptional activity in a context-
dependent manner; dbSNP:rs121909123).
{ECO:0000269|PubMed:18728071,
ECO:0000269|PubMed:22045651,
ECO:0000269|PubMed:22777675}.
/FTId=VAR_066840.
VARIANT 576 576 R -> Q (in PTHS; loss of function;
dbSNP:rs121909121).
{ECO:0000269|PubMed:17436254,
ECO:0000269|PubMed:19235238,
ECO:0000269|PubMed:22045651}.
/FTId=VAR_034704.
VARIANT 576 576 R -> W (in PTHS; mislocalized to small
spherical punctae that are dispersed
throughout the nucleus; can attenuate
homo- and heterodimer formation; affects
transcriptional activity in a context-
dependent manner; dbSNP:rs121909120).
{ECO:0000269|PubMed:17436254,
ECO:0000269|PubMed:17436255,
ECO:0000269|PubMed:22045651,
ECO:0000269|PubMed:22777675}.
/FTId=VAR_034705.
VARIANT 578 578 R -> H (in PTHS).
{ECO:0000269|PubMed:18728071}.
/FTId=VAR_066841.
VARIANT 578 578 R -> P (in PTHS).
{ECO:0000269|PubMed:20184619,
ECO:0000269|PubMed:22045651}.
/FTId=VAR_066973.
VARIANT 583 583 A -> P (in PTHS).
{ECO:0000269|PubMed:22045651}.
/FTId=VAR_066974.
VARIANT 610 610 A -> V (in PTHS; loss of function;
mislocalized to small spherical punctae
that are dispersed throughout the
nucleus; can attenuate homo- and
heterodimer formation; affects
transcriptional activity in a context-
dependent manner).
{ECO:0000269|PubMed:19235238,
ECO:0000269|PubMed:22045651,
ECO:0000269|PubMed:22777675}.
/FTId=VAR_058634.
CONFLICT 46 49 TGSN -> EFGG (in Ref. 9; CAA36298).
{ECO:0000305}.
CONFLICT 205 205 Missing (in Ref. 7; AV761952).
{ECO:0000305}.
CONFLICT 334 334 P -> S (in Ref. 9; CAA36298).
{ECO:0000305}.
HELIX 15 25 {ECO:0000244|PDB:2KWF}.
SEQUENCE 667 AA; 71308 MW; 53459FC7989D9487 CRC64;
MHHQQRMAAL GTDKELSDLL DFSAMFSPPV SSGKNGPTSL ASGHFTGSNV EDRSSSGSWG
NGGHPSPSRN YGDGTPYDHM TSRDLGSHDN LSPPFVNSRI QSKTERGSYS SYGRESNLQG
CHQQSLLGGD MDMGNPGTLS PTKPGSQYYQ YSSNNPRRRP LHSSAMEVQT KKVRKVPPGL
PSSVYAPSAS TADYNRDSPG YPSSKPATST FPSSFFMQDG HHSSDPWSSS SGMNQPGYAG
MLGNSSHIPQ SSSYCSLHPH ERLSYPSHSS ADINSSLPPM STFHRSGTNH YSTSSCTPPA
NGTDSIMANR GSGAAGSSQT GDALGKALAS IYSPDHTNNS FSSNPSTPVG SPPSLSAGTA
VWSRNGGQAS SSPNYEGPLH SLQSRIEDRL ERLDDAIHVL RNHAVGPSTA MPGGHGDMHG
IIGPSHNGAM GGLGSGYGTG LLSANRHSLM VGTHREDGVA LRGSHSLLPN QVPVPQLPVQ
SATSPDLNPP QDPYRGMPPG LQGQSVSSGS SEIKSDDEGD ENLQDTKSSE DKKLDDDKKD
IKSITSNNDD EDLTPEQKAE REKERRMANN ARERLRVRDI NEAFKELGRM VQLHLKSDKP
QTKLLILHQA VAVILSLEQQ VRERNLNPKA ACLKRREEEK VSSEPPPLSL AGPHPGMGDA
SNHMGQM


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