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HNF1B

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).

Involvement in disease

Renal cysts and diabetes syndrome

RCAD

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.

None

The disease is caused by variants affecting the gene represented in this entry.

Type 2 diabetes mellitus

T2D

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.

None

Disease susceptibility may be associated with variants affecting the gene represented in this entry.

Prostate cancer, hereditary, 11

HPC11

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.

None

Disease susceptibility is associated with variants affecting the gene represented in this entry.

Sequence Similarities

Belongs to the HNF1 homeobox family.

Cellular localization

Alternative names

TCF2, HNF1B, Hepatocyte nuclear factor 1-beta, HNF-1-beta, HNF-1B, Homeoprotein LFB3, Transcription factor 2, Variant hepatic nuclear factor 1, TCF-2, vHNF1

swissprot:P35680 entrezGene:6927 omim:142410 omim:189907 swissprot:P20823 entrezGene:6928