HNF1B

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]

Description

HNF1 homeobox B

Protein family

Disease related genes, Mapped to neXtProt, Mapped to UniProt SWISS-PROT, Predicted intracellular proteins, Protein evidence (Peptideatlas), Transcription factors

Chromosome

17:q12 (37686431 - 37745105)

Ensembl ID

ENSG00000275410  (ver. 98.38)

Orthologs

Mouse Hnf1b: ENSMUSG00000020679

UniProt

P35680

neXtProt

NX_P35680

Human splice variants
Mouse splice variants