HNF1 Homeobox B

Alternative Names

  • HNF1B
  • Transcription Factor 2
  • TCF2
  • Transcription Factor, Liver-Specific, 3
  • Hepatocyte Nuclear Factor-1-Beta
  • Hepatic Nuclear Factor-1-Beta
  • Hepatocyte Nuclear Factor 2
  • HNF2

Associated Diseases

Type 2 Diabetes Mellitus
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OMIM Number

189907

NCBI Gene ID

6928

Uniprot ID

P35680

Length

58,629 bases

No. of Exons

11

No. of isoforms

4

Protein Name

Hepatocyte nuclear factor 1-beta

Molecular Mass

61324 Da

Amino Acid Count

557

Genomic Location

chr17:37,686,430-37,745,058

Gene Map Locus
17q12

Description

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]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000458.3:c.544+1391T=LebanonNC_000017.11:g.37738049A=AssociationType 2 Diabetes MellitusNM_000458.3:c.544+1391T=; NP_000449.1:p.?4430796
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