HNF1B gene

HNF1 homeobox B

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a member of the homeodomain-containing superfamily of transcription factors. The protein binds to DNA as either a homodimer, or a heterodimer with the related protein hepatocyte nuclear factor 1-alpha. The gene has been shown to function in nephron development, and regulates development of the embryonic pancreas. Mutations in this gene result in renal cysts and diabetes syndrome and noninsulin-dependent diabetes mellitus, and expression of this gene is altered in some types of cancer. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]

From UniProt:

Transcription factor, probably binds to the inverted palindrome 5'-GTTAATNATTAAC-3'.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Diabetes mellitus type 2
  • Renal cell carcinoma, nonpapillary
  • Familial hypoplastic, glomerulocystic kidney

From UniProt:

Diabetes mellitus, non-insulin-dependent (NIDDM): A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own 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. [MIM:125853]

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. [MIM:611955]

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. [MIM:137920]

Cytogenetic Location: 17q12, which is the long (q) arm of chromosome 17 at position 12

Molecular Location: base pairs 37,686,431 to 37,745,078 on chromosome 17 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 17q12, which is the long (q) arm of chromosome 17 at position 12
  • FJHN
  • HNF-1-beta
  • HNF-1B
  • HNF1beta
  • HNF2
  • HPC11
  • LF-B3
  • LFB3
  • MODY5
  • TCF-2
  • TCF2
  • VHNF1