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Paired box protein Pax-8

 PAX8_HUMAN              Reviewed;         450 AA.
Q06710; Q09155; Q16337; Q16338; Q16339; Q4ZG35; Q96J49;
01-JUN-1994, integrated into UniProtKB/Swiss-Prot.
25-NOV-2008, sequence version 2.
22-NOV-2017, entry version 173.
RecName: Full=Paired box protein Pax-8;
Name=PAX8;
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 1 AND 2), AND VARIANT LEU-329.
TISSUE=Kidney;
PubMed=1337742;
Poleev A., Fickenscher H., Mundlos S., Winterpacht A., Zabel B.,
Fidler A., Gruss P., Plachov D.;
"PAX8, a human paired box gene: isolation and expression in developing
thyroid, kidney and Wilms' tumors.";
Development 116:611-623(1992).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND ALTERNATIVE SPLICING.
TISSUE=Kidney;
PubMed=8413205; DOI=10.1128/MCB.13.10.6024;
Kozmik Z., Kurzbauer R., Doerfler P., Busslinger M.;
"Alternative splicing of Pax-8 gene transcripts is developmentally
regulated and generates isoforms with different transactivation
properties.";
Mol. Cell. Biol. 13:6024-6035(1993).
[3]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 3; 4 AND 5).
PubMed=7737192; DOI=10.1111/j.1432-1033.1995.tb20338.x;
Poleev A., Wendler F., Fickenscher H., Zannini M.S., Yaginuma K.,
Abbott C., Plachov D.;
"Distinct functional properties of three human paired-box-protein,
PAX8, isoforms generated by alternative splicing in thyroid, kidney
and Wilms' tumors.";
Eur. J. Biochem. 228:899-911(1995).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Cervix;
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).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15815621; DOI=10.1038/nature03466;
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H.,
Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M.,
Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E.,
Kremitzki C., Oddy L., Du H., Sun H., Bradshaw-Cordum H., Ali J.,
Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C.,
Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J.,
Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A.,
Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K.,
Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M.,
Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N.,
Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M.,
Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E.,
Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P.,
Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A.,
Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A.,
Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T.,
Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D.,
Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X.,
McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
Miller W., Eichler E.E., Bork P., Suyama M., Torrents D.,
Waterston R.H., Wilson R.K.;
"Generation and annotation of the DNA sequences of human chromosomes 2
and 4.";
Nature 434:724-731(2005).
[6]
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.
[7]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Kidney;
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).
[8]
INTERACTION WITH WWTR1.
PubMed=19010321; DOI=10.1016/j.yexcr.2008.10.016;
Di Palma T., D'Andrea B., Liguori G.L., Liguoro A., de Cristofaro T.,
Del Prete D., Pappalardo A., Mascia A., Zannini M.;
"TAZ is a coactivator for Pax8 and TTF-1, two transcription factors
involved in thyroid differentiation.";
Exp. Cell Res. 315:162-175(2009).
[9]
VARIANTS CHNG2 HIS-31 AND ARG-62.
PubMed=9590296; DOI=10.1038/ng0598-83;
Macchia P.E., Lapi P., Krude H., Pirro M.T., Missero C., Chiovato L.,
Souabni A., Baserga M., Tassi V., Pinchera A., Fenzi G., Gruters A.,
Busslinger M., Di Lauro R.;
"PAX8 mutations associated with congenital hypothyroidism caused by
thyroid dysgenesis.";
Nat. Genet. 19:83-86(1998).
[10]
VARIANT CHNG2 TYR-57.
PubMed=11232006; DOI=10.1210/jcem.86.1.7140;
Vilain C., Rydlewski C., Duprez L., Heinrichs C., Abramowicz M.,
Malvaux P., Renneboog B., Parma J., Costagliola S., Vassart G.;
"Autosomal dominant transmission of congenital thyroid hypoplasia due
to loss-of-function mutation of PAX8.";
J. Clin. Endocrinol. Metab. 86:234-238(2001).
[11]
VARIANT CHNG2 PRO-40.
PubMed=11502839; DOI=10.1210/jcem.86.8.7765;
Congdon T., Nguyen L.Q., Nogueira C.R., Habiby R.L., Medeiros-Neto G.,
Kopp P.;
"A novel mutation (Q40P) in PAX8 associated with congenital
hypothyroidism and thyroid hypoplasia: evidence for phenotypic
variability in mother and child.";
J. Clin. Endocrinol. Metab. 86:3962-3967(2001).
[12]
STRUCTURE BY NMR OF 1-143.
PubMed=18829450; DOI=10.1074/jbc.M805717200;
Codutti L., van Ingen H., Vascotto C., Fogolari F., Corazza A.,
Tell G., Quadrifoglio F., Viglino P., Boelens R., Esposito G.;
"The solution structure of DNA-free Pax-8 paired box domain accounts
for redox regulation of transcriptional activity in the pax protein
family.";
J. Biol. Chem. 283:33321-33328(2008).
-!- FUNCTION: Transcription factor for the thyroid-specific expression
of the genes exclusively expressed in the thyroid cell type,
maintaining the functional differentiation of such cells.
-!- SUBUNIT: Interacts with WWTR1. {ECO:0000269|PubMed:19010321}.
-!- INTERACTION:
P19338:NCL; NbExp=2; IntAct=EBI-2683132, EBI-346967;
Q9NRX5:SERINC1; NbExp=2; IntAct=EBI-2683132, EBI-2683145;
-!- SUBCELLULAR LOCATION: Nucleus.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=5;
Name=1; Synonyms=Pax8a;
IsoId=Q06710-1; Sequence=Displayed;
Name=2; Synonyms=Pax8b;
IsoId=Q06710-2; Sequence=VSP_002372;
Name=3; Synonyms=Pax8c;
IsoId=Q06710-3; Sequence=VSP_002373;
Name=4; Synonyms=Pax8d;
IsoId=Q06710-4; Sequence=VSP_002374;
Name=5; Synonyms=Pax8e;
IsoId=Q06710-5; Sequence=VSP_002375;
-!- TISSUE SPECIFICITY: Expressed in the excretory system, thyroid
gland and Wilms tumors.
-!- DEVELOPMENTAL STAGE: In developing excretory system, during
thyroid differentiation and in adult thyroid.
-!- DISEASE: Hypothyroidism, congenital, non-goitrous, 2 (CHNG2)
[MIM:218700]: A disease characterized by thyroid dysgenesis, the
most frequent cause of congenital hypothyroidism, accounting for
85% of case. The thyroid gland can be completely absent
(athyreosis), ectopically located and/or severely hypoplastic.
Ectopic thyroid gland is the most frequent malformation, with
thyroid tissue being found most often at the base of the tongue.
{ECO:0000269|PubMed:11232006, ECO:0000269|PubMed:11502839,
ECO:0000269|PubMed:9590296}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology
and Haematology;
URL="http://atlasgeneticsoncology.org/Genes/PAX8ID382ch2q13.html";
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EMBL; X69699; -; NOT_ANNOTATED_CDS; mRNA.
EMBL; L19606; AAA03539.1; -; mRNA.
EMBL; S77904; AAB34216.1; -; mRNA.
EMBL; S77905; AAB34217.2; -; mRNA.
EMBL; S77906; AAB34218.2; -; mRNA.
EMBL; AK292191; BAF84880.1; -; mRNA.
EMBL; AC016683; AAX88880.1; -; Genomic_DNA.
EMBL; CH471217; EAW73629.1; -; Genomic_DNA.
EMBL; BC001060; AAH01060.1; -; mRNA.
CCDS; CCDS42735.1; -. [Q06710-5]
CCDS; CCDS42736.1; -. [Q06710-4]
CCDS; CCDS46398.1; -. [Q06710-1]
CCDS; CCDS46399.1; -. [Q06710-3]
PIR; A54429; A54429.
PIR; I53340; I53340.
RefSeq; NP_003457.1; NM_003466.3. [Q06710-1]
RefSeq; NP_039246.1; NM_013952.3. [Q06710-3]
RefSeq; NP_039247.1; NM_013953.3. [Q06710-4]
RefSeq; NP_054698.1; NM_013992.3. [Q06710-5]
UniGene; Hs.469728; -.
PDB; 2K27; NMR; -; A=1-143.
PDBsum; 2K27; -.
ProteinModelPortal; Q06710; -.
SMR; Q06710; -.
BioGrid; 113604; 9.
IntAct; Q06710; 23.
STRING; 9606.ENSP00000395498; -.
ChEMBL; CHEMBL2362980; -.
iPTMnet; Q06710; -.
PhosphoSitePlus; Q06710; -.
BioMuta; PAX8; -.
DMDM; 215273928; -.
PaxDb; Q06710; -.
PeptideAtlas; Q06710; -.
PRIDE; Q06710; -.
DNASU; 7849; -.
Ensembl; ENST00000263334; ENSP00000263334; ENSG00000125618. [Q06710-1]
Ensembl; ENST00000263335; ENSP00000263335; ENSG00000125618. [Q06710-4]
Ensembl; ENST00000348715; ENSP00000314750; ENSG00000125618. [Q06710-3]
Ensembl; ENST00000397647; ENSP00000380768; ENSG00000125618. [Q06710-5]
Ensembl; ENST00000429538; ENSP00000395498; ENSG00000125618. [Q06710-1]
GeneID; 7849; -.
KEGG; hsa:7849; -.
UCSC; uc002tjm.4; human. [Q06710-1]
CTD; 7849; -.
DisGeNET; 7849; -.
EuPathDB; HostDB:ENSG00000125618.16; -.
GeneCards; PAX8; -.
HGNC; HGNC:8622; PAX8.
HPA; HPA030062; -.
HPA; HPA064554; -.
MalaCards; PAX8; -.
MIM; 167415; gene.
MIM; 218700; phenotype.
neXtProt; NX_Q06710; -.
OpenTargets; ENSG00000125618; -.
Orphanet; 95713; Athyreosis.
Orphanet; 95720; Thyroid hypoplasia.
PharmGKB; PA32962; -.
eggNOG; KOG3862; Eukaryota.
eggNOG; ENOG410ZT0S; LUCA.
GeneTree; ENSGT00680000099553; -.
HOVERGEN; HBG009115; -.
InParanoid; Q06710; -.
KO; K09293; -.
OMA; DTFSQHH; -.
OrthoDB; EOG091G0S4E; -.
PhylomeDB; Q06710; -.
TreeFam; TF315397; -.
SIGNOR; Q06710; -.
ChiTaRS; PAX8; human.
EvolutionaryTrace; Q06710; -.
GeneWiki; PAX8; -.
GenomeRNAi; 7849; -.
PRO; PR:Q06710; -.
Proteomes; UP000005640; Chromosome 2.
Bgee; ENSG00000125618; -.
CleanEx; HS_PAX8; -.
ExpressionAtlas; Q06710; baseline and differential.
Genevisible; Q06710; HS.
GO; GO:0005654; C:nucleoplasm; IDA:HPA.
GO; GO:0005634; C:nucleus; IDA:UniProtKB.
GO; GO:0003677; F:DNA binding; IDA:UniProtKB.
GO; GO:0000978; F:RNA polymerase II core promoter proximal region sequence-specific DNA binding; IEA:Ensembl.
GO; GO:0000979; F:RNA polymerase II core promoter sequence-specific DNA binding; IDA:UniProtKB.
GO; GO:0004996; F:thyroid-stimulating hormone receptor activity; TAS:ProtInc.
GO; GO:0003700; F:transcription factor activity, sequence-specific DNA binding; IDA:UniProtKB.
GO; GO:0044212; F:transcription regulatory region DNA binding; IDA:UniProtKB.
GO; GO:0001077; F:transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding; IEA:Ensembl.
GO; GO:0009653; P:anatomical structure morphogenesis; TAS:ProtInc.
GO; GO:0001658; P:branching involved in ureteric bud morphogenesis; IEP:UniProtKB.
GO; GO:0071371; P:cellular response to gonadotropin stimulus; IDA:UniProtKB.
GO; GO:0007417; P:central nervous system development; IEP:UniProtKB.
GO; GO:0042472; P:inner ear morphogenesis; ISS:UniProtKB.
GO; GO:0001822; P:kidney development; IEP:UniProtKB.
GO; GO:0003337; P:mesenchymal to epithelial transition involved in metanephros morphogenesis; IEP:UniProtKB.
GO; GO:0001823; P:mesonephros development; ISS:UniProtKB.
GO; GO:0072278; P:metanephric comma-shaped body morphogenesis; IEP:UniProtKB.
GO; GO:0072221; P:metanephric distal convoluted tubule development; ISS:UniProtKB.
GO; GO:0072207; P:metanephric epithelium development; IEP:UniProtKB.
GO; GO:0072289; P:metanephric nephron tubule formation; ISS:UniProtKB.
GO; GO:0072284; P:metanephric S-shaped body morphogenesis; IEP:UniProtKB.
GO; GO:1900215; P:negative regulation of apoptotic process involved in metanephric collecting duct development; ISS:UniProtKB.
GO; GO:1900218; P:negative regulation of apoptotic process involved in metanephric nephron tubule development; ISS:UniProtKB.
GO; GO:0010667; P:negative regulation of cardiac muscle cell apoptotic process; IEA:Ensembl.
GO; GO:0072305; P:negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis; ISS:UniProtKB.
GO; GO:1900212; P:negative regulation of mesenchymal cell apoptotic process involved in metanephros development; ISS:UniProtKB.
GO; GO:0071599; P:otic vesicle development; IEP:UniProtKB.
GO; GO:0090190; P:positive regulation of branching involved in ureteric bud morphogenesis; ISS:UniProtKB.
GO; GO:0072108; P:positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis; ISS:UniProtKB.
GO; GO:2000594; P:positive regulation of metanephric DCT cell differentiation; ISS:UniProtKB.
GO; GO:2000611; P:positive regulation of thyroid hormone generation; IMP:UniProtKB.
GO; GO:0045944; P:positive regulation of transcription from RNA polymerase II promoter; IDA:UniProtKB.
GO; GO:0045893; P:positive regulation of transcription, DNA-templated; IDA:UniProtKB.
GO; GO:0039003; P:pronephric field specification; ISS:UniProtKB.
GO; GO:0048793; P:pronephros development; ISS:UniProtKB.
GO; GO:0042981; P:regulation of apoptotic process; ISS:UniProtKB.
GO; GO:0072307; P:regulation of metanephric nephron tubule epithelial cell differentiation; ISS:UniProtKB.
GO; GO:2000612; P:regulation of thyroid-stimulating hormone secretion; IMP:UniProtKB.
GO; GO:0006790; P:sulfur compound metabolic process; IEA:Ensembl.
GO; GO:0030878; P:thyroid gland development; IMP:UniProtKB.
GO; GO:0006351; P:transcription, DNA-templated; IDA:UniProtKB.
GO; GO:0001655; P:urogenital system development; ISS:UniProtKB.
GO; GO:0003281; P:ventricular septum development; IEA:Ensembl.
CDD; cd00131; PAX; 1.
Gene3D; 1.10.10.10; -; 2.
InterPro; IPR009057; Homeobox-like_sf.
InterPro; IPR001523; Paired_dom.
InterPro; IPR022130; Pax2_C.
InterPro; IPR036388; WH-like_DNA-bd_sf.
Pfam; PF00292; PAX; 1.
Pfam; PF12403; Pax2_C; 1.
PRINTS; PR00027; PAIREDBOX.
SMART; SM00351; PAX; 1.
SUPFAM; SSF46689; SSF46689; 1.
PROSITE; PS00034; PAIRED_1; 1.
PROSITE; PS51057; PAIRED_2; 1.
1: Evidence at protein level;
3D-structure; Alternative splicing; Complete proteome;
Congenital hypothyroidism; Developmental protein; Differentiation;
Disease mutation; DNA-binding; Nucleus; Paired box; Phosphoprotein;
Polymorphism; Reference proteome; Transcription;
Transcription regulation.
CHAIN 1 450 Paired box protein Pax-8.
/FTId=PRO_0000050197.
DOMAIN 9 135 Paired. {ECO:0000255|PROSITE-
ProRule:PRU00381}.
COMPBIAS 315 327 Ser-rich.
MOD_RES 303 303 Phosphoserine.
{ECO:0000250|UniProtKB:Q00288}.
VAR_SEQ 260 450 GLYPLPLLNSTLDDGKATLTPSNTPLGRNLSTHQTYPVVAD
PHSPFAIKQETPEVSSSSSTPSSLSSSAFLDLQQVGSGVPP
FNAFPHAASVYGQFTGQALLSGREMVGPTLPGYPPHIPTSG
QGSYASSAIAGMVAGSEYSGNAYGHTPYSSYSEAWRFPNSS
LLSSPYYYSSTSRPSAPPTTATAFDHL -> GERWWGPRCP
DTHPTSPPADRAAMPPLPSQAWWQEVNTLAMPMATPPTPPT
ARPGASPTPAC (in isoform 4).
{ECO:0000303|PubMed:7737192}.
/FTId=VSP_002374.
VAR_SEQ 260 450 GLYPLPLLNSTLDDGKATLTPSNTPLGRNLSTHQTYPVVAD
PHSPFAIKQETPEVSSSSSTPSSLSSSAFLDLQQVGSGVPP
FNAFPHAASVYGQFTGQALLSGREMVGPTLPGYPPHIPTSG
QGSYASSAIAGMVAGSEYSGNAYGHTPYSSYSEAWRFPNSS
LLSSPYYYSSTSRPSAPPTTATAFDHL -> EVNTLAMPMA
TPPTPPTARPGASPTPAC (in isoform 5).
{ECO:0000303|PubMed:7737192}.
/FTId=VSP_002375.
VAR_SEQ 300 450 DPHSPFAIKQETPEVSSSSSTPSSLSSSAFLDLQQVGSGVP
PFNAFPHAASVYGQFTGQALLSGREMVGPTLPGYPPHIPTS
GQGSYASSAIAGMVAGSEYSGNAYGHTPYSSYSEAWRFPNS
SLLSSPYYYSSTSRPSAPPTTATAFDHL -> APPFWICSK
SAPGSRPSMPFPMLPPCTGSSRARPSSQGERWWGPRCPDTH
PTSPPADRAAMPPLPSQAWWQEVNTLAMPMATPPTPPTARP
GASPTPAC (in isoform 3).
{ECO:0000303|PubMed:7737192}.
/FTId=VSP_002373.
VAR_SEQ 300 362 Missing (in isoform 2).
{ECO:0000303|PubMed:1337742}.
/FTId=VSP_002372.
VARIANT 31 31 R -> H (in CHNG2; loss of activity;
dbSNP:rs104893657).
{ECO:0000269|PubMed:9590296}.
/FTId=VAR_012769.
VARIANT 40 40 Q -> P (in CHNG2; loss of activity;
dbSNP:rs104893656).
{ECO:0000269|PubMed:11502839}.
/FTId=VAR_012770.
VARIANT 57 57 C -> Y (in CHNG2; loss of activity;
dbSNP:rs104893659).
{ECO:0000269|PubMed:11232006}.
/FTId=VAR_012771.
VARIANT 62 62 L -> R (in CHNG2; loss of activity;
dbSNP:rs104893658).
{ECO:0000269|PubMed:9590296}.
/FTId=VAR_012772.
VARIANT 329 329 F -> L (in dbSNP:rs3188996).
{ECO:0000269|PubMed:1337742}.
/FTId=VAR_012773.
CONFLICT 305 305 F -> L (in Ref. 1; X69699).
{ECO:0000305}.
CONFLICT 322 322 S -> C (in Ref. 1; X69699).
{ECO:0000305}.
CONFLICT 418 418 R -> G (in Ref. 1; X69699).
{ECO:0000305}.
STRAND 21 23 {ECO:0000244|PDB:2K27}.
HELIX 28 40 {ECO:0000244|PDB:2K27}.
HELIX 44 51 {ECO:0000244|PDB:2K27}.
HELIX 56 62 {ECO:0000244|PDB:2K27}.
HELIX 88 98 {ECO:0000244|PDB:2K27}.
STRAND 100 102 {ECO:0000244|PDB:2K27}.
HELIX 104 114 {ECO:0000244|PDB:2K27}.
TURN 119 121 {ECO:0000244|PDB:2K27}.
HELIX 125 135 {ECO:0000244|PDB:2K27}.
SEQUENCE 450 AA; 48218 MW; 7FDAFA8CEAF20A0E CRC64;
MPHNSIRSGH GGLNQLGGAF VNGRPLPEVV RQRIVDLAHQ GVRPCDISRQ LRVSHGCVSK
ILGRYYETGS IRPGVIGGSK PKVATPKVVE KIGDYKRQNP TMFAWEIRDR LLAEGVCDND
TVPSVSSINR IIRTKVQQPF NLPMDSCVAT KSLSPGHTLI PSSAVTPPES PQSDSLGSTY
SINGLLGIAQ PGSDKRKMDD SDQDSCRLSI DSQSSSSGPR KHLRTDAFSQ HHLEPLECPF
ERQHYPEAYA SPSHTKGEQG LYPLPLLNST LDDGKATLTP SNTPLGRNLS THQTYPVVAD
PHSPFAIKQE TPEVSSSSST PSSLSSSAFL DLQQVGSGVP PFNAFPHAAS VYGQFTGQAL
LSGREMVGPT LPGYPPHIPT SGQGSYASSA IAGMVAGSEY SGNAYGHTPY SSYSEAWRFP
NSSLLSSPYY YSSTSRPSAP PTTATAFDHL


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