TCF2
entrez
6928
canonical
uniprot
P35680
canonical
ensembl
ENSG00000275410
resolver
ensembl
ENSG00000276194
resolver
ensp
ENSP00000477524
resolver
ensp
ENSP00000479629
resolver
ensp
ENSP00000480291
resolver
ensp
ENSP00000482529
resolver
ensp
ENSP00000482711
resolver
ensp
ENSP00000488519
resolver
ensp
ENSP00000574975
resolver
ensp
ENSP00000684646
resolver
enst
ENST00000613727
resolver
enst
ENST00000614313
resolver
enst
ENST00000614955
resolver
enst
ENST00000632625
resolver
genesymbol
HNF1B
resolver
genesymbol
TCF2
resolver
genesymbol_syn
TCF2
resolver
hgnc
HGNC:11630
resolver
uniprot
A0A087WZC2
resolver
uniprot
A0A0C4DGS8
resolver
uniprot
B4DKM3
resolver
uniprot
E0YMJ6
resolver
uniprot
E0YMJ9
resolver
uniprot
Q6FHW6
resolver
uniprot_entry
A0A087WZC2_HUMAN
resolver
uniprot_entry
A0A0C4DGS8_HUMAN
resolver
uniprot_entry
E0YMJ6_HUMAN
resolver
uniprot_entry
HNF1B_HUMAN
resolver
uniprot_entry
Q6FHW6_HUMAN
resolver
uniprot_sec
B4DKM3
resolver
uniprot_sec
E0YMJ9
resolver
amino_acid_sequence
MVSKLTSLQQELLSALLSSGVTKEVLVQALEELLPSPNFGVKLETLPLSPGSGAEPDTKPVFHTLTNGHAKGRLSGDEGSEDGDDYDTPPILKELQALNTEEAAEQRAEVDRMLSEDPWRAAKMIKGYMQQHNIPQREVVDVTGLNQSHLSQHLNKGTPMKTQKRAALYTWYVRKQREILRQFNQTVQSSGNMTDKSSQDQLLFLFPEFSQQSHGPGQSDDACSEPTNKKMRRNRFKWGPASQQILYQAYDRQKNPSKEEREALVEECNRAECLQRGVSPSKAHGLGSNLVTEVRVYNWFANRRKEEAFRQKLAMDAYSSNQTHSLNPLLSHGSPHHQPSSSPPNKLSGVRYSQQGNNEITSSSTISHHGNSAMVTSQSVLQQVSPASLDPGHNLLSPDGKMISVSGGGLPPVSTLTNIHSLSHHNPQQSQNLIMTPLSGVMAIAQSLNTSQAQSVPVINSVAGSLAALQPVQFSQQLHSPHQQPLMQQSPGSHMAQQPFMAAVTQLQNSHMYAHKQEPPQYSHTSRFPSAMVVTDTSSISTLTNMSSSKQCPLQAW
uniprot
proteins
disease_involvement
DISEASE: Renal cysts and diabetes syndrome (RCAD) [MIM:137920]: An autosomal dominant disorder comprising non-diabetic renal disease resulting from abnormal renal development, and diabetes, which in some cases occurs earlier than age 25 years and is thus consistent with a diagnosis of maturity-onset diabetes of the young (MODY5). The renal disease is highly variable and includes renal cysts, glomerular tufts, aberrant nephrogenesis, primitive tubules, irregular collecting systems, oligomeganephronia, enlarged renal pelves, abnormal calyces, small kidney, single kidney, horseshoe kidney, and hyperuricemic nephropathy. Affected individuals may also have abnormalities of the genital tract. {ECO:0000269|PubMed:10484768, ECO:0000269|PubMed:10672455, ECO:0000269|PubMed:11845238, ECO:0000269|PubMed:11918730, ECO:0000269|PubMed:14583183, ECO:0000269|PubMed:15001636, ECO:0000269|PubMed:15068978, ECO:0000269|PubMed:15181075, ECO:0000269|PubMed:15930087, ECO:0000269|PubMed:16249435, ECO:0000269|PubMed:24204001}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Type 2 diabetes mellitus (T2D) [MIM:125853]: A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000269|PubMed:12161522}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry.; DISEASE: Prostate cancer, hereditary, 11 (HPC11) [MIM:611955]: A condition associated with familial predisposition to cancer of the prostate. Most prostate cancers are adenocarcinomas that develop in the acini of the prostatic ducts. Other rare histopathologic types of prostate cancer that occur in approximately 5% of patients include small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma, transitional cell carcinoma, squamous cell carcinoma, basal cell carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell carcinoma and neuroendocrine carcinoma. {ECO:0000269|PubMed:18264097}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcription factor that binds to the inverted palindrome 5'-GTTAATNATTAAC-3' (PubMed:17924661, PubMed:7900999). Binds to the FPC element in the cAMP regulatory unit of the PLAU gene (By similarity). Transcriptional activity is increased by coactivator PCBD1 (PubMed:24204001). {ECO:0000250|UniProtKB:Q03365, ECO:0000269|PubMed:17924661, ECO:0000269|PubMed:24204001, ECO:0000269|PubMed:7900999}.
uniprot
proteins
mass_dalton
61324
uniprot
proteins
mutagenesis
MUTAGEN 1..32; /note="Missing: Loss of interaction with PCBD1. Loss of PCBD1 recruitment to the nucleus."; /evidence="ECO:0000269|PubMed:24204001"; MUTAGEN 253; /note="Q->P: No impact on interaction with PCBD1. Reduced PCBD1 recruitment to the nucleus. Reduced coactivation by PCBD1."; /evidence="ECO:0000269|PubMed:24204001
uniprot
proteins
protein_family
HNF1 homeobox family
uniprot
proteins
pubmed
10484768
uniprot
proteins
pubmed
10672455
uniprot
proteins
pubmed
11845238
uniprot
proteins
pubmed
11918730
uniprot
proteins
pubmed
12161522
uniprot
proteins
pubmed
14583183
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15001636
uniprot
proteins
pubmed
15068978
uniprot
proteins
pubmed
15181075
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15930087
uniprot
proteins
pubmed
16249435
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
1677179
uniprot
proteins
pubmed
17924661
uniprot
proteins
pubmed
18264097
uniprot
proteins
pubmed
24204001
uniprot
proteins
pubmed
33749890
uniprot
proteins
pubmed
7900999
uniprot
proteins
pubmed
9398836
uniprot
proteins
sequence_length
557
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus.
uniprot
proteins