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T-box transcription factor TBX20 (T-box protein 20)

 TBX20_MOUSE             Reviewed;         445 AA.
Q9ES03; Q9EPZ5; Q9ESX1;
27-APR-2001, integrated into UniProtKB/Swiss-Prot.
28-NOV-2006, sequence version 3.
25-OCT-2017, entry version 139.
RecName: Full=T-box transcription factor TBX20;
Short=T-box protein 20;
Name=Tbx20; Synonyms=Tbx12;
Mus musculus (Mouse).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
Muroidea; Muridae; Murinae; Mus; Mus.
NCBI_TaxID=10090;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
PubMed=10940636; DOI=10.1016/S0925-4773(00)00376-2;
Carson C.T., Kinzler E.R., Parr B.A.;
"Tbx12, a novel T-box gene, is expressed during early stages of heart
and retinal development.";
Mech. Dev. 96:137-140(2000).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
TISSUE=Fetal heart;
PubMed=10936053; DOI=10.1006/geno.2000.6249;
Meins M., Henderson D.J., Bhattacharya S.S., Sowden J.C.;
"Characterization of the human TBX20 gene, a new member of the T-box
gene family closely related to the Drosophila H15 gene.";
Genomics 67:317-332(2000).
[3]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, AND
DEVELOPMENTAL STAGE.
STRAIN=NIH Swiss; TISSUE=Embryonic heart;
PubMed=11118890; DOI=10.1016/S0925-4773(00)00499-8;
Kraus F., Haenig B., Kispert A.;
"Cloning and expression analysis of the mouse T-box gene tbx20.";
Mech. Dev. 100:87-91(2001).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
STRAIN=C57BL/6J;
PubMed=16141072; DOI=10.1126/science.1112014;
Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M.,
Davis M.J., Wilming L.G., Aidinis V., Allen J.E.,
Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L.,
Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M.,
Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R.,
Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G.,
di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G.,
Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M.,
Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N.,
Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T.,
Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H.,
Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K.,
Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J.,
Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L.,
Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K.,
Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P.,
Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O.,
Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G.,
Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M.,
Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B.,
Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K.,
Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A.,
Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K.,
Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C.,
Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J.,
Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y.,
Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T.,
Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N.,
Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N.,
Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S.,
Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J.,
Hayashizaki Y.;
"The transcriptional landscape of the mammalian genome.";
Science 309:1559-1563(2005).
[5]
DISRUPTION PHENOTYPE.
PubMed=15901664; DOI=10.1242/dev.01854;
Singh M.K., Christoffels V.M., Dias J.M., Trowe M.O., Petry M.,
Schuster-Gossler K., Burger A., Ericson J., Kispert A.;
"Tbx20 is essential for cardiac chamber differentiation and repression
of Tbx2.";
Development 132:2697-2707(2005).
[6]
FUNCTION.
PubMed=22328084; DOI=10.1093/hmg/dds034;
Sakabe N.J., Aneas I., Shen T., Shokri L., Park S.Y., Bulyk M.L.,
Evans S.M., Nobrega M.A.;
"Dual transcriptional activator and repressor roles of TBX20 regulate
adult cardiac structure and function.";
Hum. Mol. Genet. 21:2194-2204(2012).
-!- FUNCTION: Acts as a transcriptional activator and repressor
required for cardiac development and may have key roles in the
maintenance of functional and structural phenotypes in adult
heart. {ECO:0000269|PubMed:22328084}.
-!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-
ProRule:PRU00201}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=2;
Name=1;
IsoId=Q9ES03-1; Sequence=Displayed;
Name=2;
IsoId=Q9ES03-2; Sequence=VSP_021730;
-!- TISSUE SPECIFICITY: Prominently expressed in the extraembryonic
mesoderm, developing heart, eye analage and motor neurons of
hindbrain and spinal cord. Expressed in extraembryonic tissues
such as the amnion and allantois. {ECO:0000269|PubMed:11118890}.
-!- DEVELOPMENTAL STAGE: Between E7.25 and E8, expression detected in
the extraembryonic mesoderm and contributes to amnion and chorion.
Allantois expression persists until E10.5 and continues into the
umbilical cord. Expression is found throughout heart development.
At E7.5, detected in the cardiogenic mesoderm, at E8.0-8.5, found
in the cardiac crescent and looping heart tube and from E9.5,
found in the forming four-chambered heart. At all stages,
expression is much stronger in the myocardium than in the
endocardium and expression extends from the cardiogenic into the
lateral plate mesoderm. From E10.5 on, weakly expressed in the
periphery of the liver lobes, and in cells surrounding the aorta
in the urogenital system. At E9.0, weakly expressed in the dorsal
half of the optic vesicle. Later, expression spreads ventrally to
enclose the entire neural retina at E11.5. At E9.0, expression is
initiated in the hindbrain: first in the ventral region of
rhombomere (r) 2 and 4, then in r7, r8 and in the cervical spinal
cord. By E10.5, two ventral stripes of Tbx20 containing cells are
continuous from r2 into the cervical spinal cord and expression is
seen in two symmetrical patches of cell bodies in the mantle
region of the ventral neural tube. At E11.5, expression follows
the migration of motor neurons. {ECO:0000269|PubMed:11118890}.
-!- DISRUPTION PHENOTYPE: Embryos die at mid-gestation. The heart tube
of deficient mices does not elongate, but anterior and secondary
heart field markers are not affected.
{ECO:0000269|PubMed:15901664}.
-----------------------------------------------------------------------
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Distributed under the Creative Commons Attribution-NoDerivs License
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EMBL; AF260557; AAG15491.1; -; mRNA.
EMBL; AJ277486; CAC04520.1; -; mRNA.
EMBL; AF306667; AAG48599.1; -; mRNA.
EMBL; AK141251; BAE24617.1; -; mRNA.
CCDS; CCDS22933.1; -. [Q9ES03-1]
CCDS; CCDS52744.1; -. [Q9ES03-2]
RefSeq; NP_001192014.1; NM_001205085.1.
RefSeq; NP_065242.1; NM_020496.3. [Q9ES03-2]
RefSeq; NP_919239.1; NM_194263.2. [Q9ES03-1]
UniGene; Mm.31452; -.
ProteinModelPortal; Q9ES03; -.
SMR; Q9ES03; -.
BioGrid; 208216; 1.
CORUM; Q9ES03; -.
IntAct; Q9ES03; 2.
STRING; 10090.ENSMUSP00000052591; -.
iPTMnet; Q9ES03; -.
PhosphoSitePlus; Q9ES03; -.
PaxDb; Q9ES03; -.
PRIDE; Q9ES03; -.
DNASU; 57246; -.
Ensembl; ENSMUST00000052946; ENSMUSP00000052591; ENSMUSG00000031965. [Q9ES03-1]
Ensembl; ENSMUST00000166018; ENSMUSP00000126318; ENSMUSG00000031965. [Q9ES03-2]
GeneID; 57246; -.
KEGG; mmu:57246; -.
UCSC; uc009ope.2; mouse. [Q9ES03-1]
CTD; 57057; -.
MGI; MGI:1888496; Tbx20.
eggNOG; KOG3586; Eukaryota.
eggNOG; ENOG410Y98J; LUCA.
GeneTree; ENSGT00760000118897; -.
HOGENOM; HOG000286000; -.
HOVERGEN; HBG067710; -.
InParanoid; Q9ES03; -.
KO; K10185; -.
OMA; TVMTPFV; -.
OrthoDB; EOG091G0I8R; -.
PhylomeDB; Q9ES03; -.
TreeFam; TF106341; -.
PRO; PR:Q9ES03; -.
Proteomes; UP000000589; Chromosome 9.
Bgee; ENSMUSG00000031965; -.
CleanEx; MM_TBX20; -.
ExpressionAtlas; Q9ES03; baseline and differential.
Genevisible; Q9ES03; MM.
GO; GO:0005737; C:cytoplasm; IDA:BHF-UCL.
GO; GO:0005634; C:nucleus; IDA:BHF-UCL.
GO; GO:0003677; F:DNA binding; IDA:MGI.
GO; GO:0001102; F:RNA polymerase II activating transcription factor binding; IPI:BHF-UCL.
GO; GO:0000978; F:RNA polymerase II core promoter proximal region sequence-specific DNA binding; IDA:NTNU_SB.
GO; GO:0000977; F:RNA polymerase II regulatory region sequence-specific DNA binding; IDA:BHF-UCL.
GO; GO:0001105; F:RNA polymerase II transcription coactivator activity; IDA:BHF-UCL.
GO; GO:0001085; F:RNA polymerase II transcription factor binding; IPI:BHF-UCL.
GO; GO:0003700; F:transcription factor activity, sequence-specific DNA binding; IDA:MGI.
GO; GO:0001077; F:transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding; IDA:NTNU_SB.
GO; GO:0003176; P:aortic valve development; IMP:BHF-UCL.
GO; GO:0003180; P:aortic valve morphogenesis; ISO:MGI.
GO; GO:0060413; P:atrial septum morphogenesis; ISO:MGI.
GO; GO:0008015; P:blood circulation; IMP:MGI.
GO; GO:0001569; P:branching involved in blood vessel morphogenesis; IMP:MGI.
GO; GO:0003207; P:cardiac chamber formation; IMP:BHF-UCL.
GO; GO:0055008; P:cardiac muscle tissue morphogenesis; IMP:BHF-UCL.
GO; GO:0003215; P:cardiac right ventricle morphogenesis; IMP:BHF-UCL.
GO; GO:0003279; P:cardiac septum development; IMP:BHF-UCL.
GO; GO:0008283; P:cell proliferation; IMP:MGI.
GO; GO:0009953; P:dorsal/ventral pattern formation; IMP:MGI.
GO; GO:0035050; P:embryonic heart tube development; IMP:MGI.
GO; GO:0036306; P:embryonic heart tube elongation; IMP:BHF-UCL.
GO; GO:0003143; P:embryonic heart tube morphogenesis; IMP:BHF-UCL.
GO; GO:0003272; P:endocardial cushion formation; IMP:BHF-UCL.
GO; GO:0003203; P:endocardial cushion morphogenesis; IMP:BHF-UCL.
GO; GO:0035922; P:foramen ovale closure; ISO:MGI.
GO; GO:0001947; P:heart looping; IMP:BHF-UCL.
GO; GO:0006936; P:muscle contraction; IMP:MGI.
GO; GO:0010991; P:negative regulation of SMAD protein complex assembly; IDA:MGI.
GO; GO:0000122; P:negative regulation of transcription from RNA polymerase II promoter; IMP:BHF-UCL.
GO; GO:0045892; P:negative regulation of transcription, DNA-templated; IDA:MGI.
GO; GO:0001764; P:neuron migration; IMP:MGI.
GO; GO:0003151; P:outflow tract morphogenesis; IMP:BHF-UCL.
GO; GO:0003148; P:outflow tract septum morphogenesis; IMP:BHF-UCL.
GO; GO:0003344; P:pericardium morphogenesis; IMP:BHF-UCL.
GO; GO:0060045; P:positive regulation of cardiac muscle cell proliferation; IMP:BHF-UCL.
GO; GO:0045944; P:positive regulation of transcription from RNA polymerase II promoter; IDA:NTNU_SB.
GO; GO:0045893; P:positive regulation of transcription, DNA-templated; IDA:MGI.
GO; GO:0003193; P:pulmonary valve formation; IMP:BHF-UCL.
GO; GO:0060577; P:pulmonary vein morphogenesis; ISO:MGI.
GO; GO:0010717; P:regulation of epithelial to mesenchymal transition; NAS:BHF-UCL.
GO; GO:0003175; P:tricuspid valve development; IMP:BHF-UCL.
GO; GO:0021524; P:visceral motor neuron differentiation; IMP:BHF-UCL.
CDD; cd00182; TBOX; 1.
Gene3D; 2.60.40.820; -; 1.
InterPro; IPR008967; p53-like_TF_DNA-bd.
InterPro; IPR036960; T-box_sf.
InterPro; IPR001699; TF_T-box.
InterPro; IPR018186; TF_T-box_CS.
PANTHER; PTHR11267; PTHR11267; 1.
Pfam; PF00907; T-box; 1.
PRINTS; PR00937; TBOX.
SMART; SM00425; TBOX; 1.
SUPFAM; SSF49417; SSF49417; 1.
PROSITE; PS01283; TBOX_1; 1.
PROSITE; PS01264; TBOX_2; 1.
PROSITE; PS50252; TBOX_3; 1.
2: Evidence at transcript level;
Alternative splicing; Complete proteome; Developmental protein;
DNA-binding; Nucleus; Reference proteome; Transcription;
Transcription regulation.
CHAIN 1 445 T-box transcription factor TBX20.
/FTId=PRO_0000184452.
DNA_BIND 108 287 T-box. {ECO:0000255|PROSITE-
ProRule:PRU00201}.
COMPBIAS 68 72 Poly-Gly.
COMPBIAS 73 78 Poly-Ser.
COMPBIAS 349 353 Poly-Ser.
VAR_SEQ 298 445 Missing (in isoform 2).
{ECO:0000303|PubMed:10936053,
ECO:0000303|PubMed:10940636}.
/FTId=VSP_021730.
CONFLICT 62 62 D -> N (in Ref. 1; AAG15491).
{ECO:0000305}.
CONFLICT 117 117 T -> P (in Ref. 1; AAG15491).
{ECO:0000305}.
SEQUENCE 445 AA; 49096 MW; 4EAEED0DF0329E57 CRC64;
MEFTASPKPQ LSSRANAFSI AALMSSGGPK EKEAAENTIK PLEQFVEKSS CAQPLGELTS
LDAHAEFGGG GGSPSSSSLC TEPLIPTTPI IPSEEMAKIA CSLETKELWD KFHELGTEMI
ITKSGRRMFP TIRVSFSGVD PESKYIVLMD IVPVDNKRYR YAYHRSSWLV AGKADPPLPA
RLYVHPDSPF TGEQLLKQMV SFEKVKLTNN ELDQHGHIIL NSMHKYQPRV HIIKKKDHTA
SLLNLKSEEF RTFIFPETVF TAVTAYQNQL ITKLKIDSNP FAKGFRDSSR LTDIERESVE
SLIQKHSYAR SPIRTYGEED VLGEESQTTQ SRGSAFTTSD NLSLSSWVSS SSSFPGFQHP
QPLTALGTST ASIATPIPHP IQGSLPPYSR LGMPLTPSAI ASSMQGSGPT FPSFHMPRYH
HYFQQGPYAA IQGLRHSSAV MTPFV


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