Aliases for HNF1B Gene
External Ids for HNF1B Gene
Previous HGNC Symbols for HNF1B Gene
Previous GeneCards Identifiers for HNF1B 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]
GeneCards Summary for HNF1B Gene
HNF1B (HNF1 Homeobox B) is a Protein Coding gene. Diseases associated with HNF1B include Renal Cysts And Diabetes Syndrome and Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney Disease. Among its related pathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Mesodermal Commitment Pathway. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and protein heterodimerization activity. An important paralog of this gene is HNF1A.
UniProtKB/Swiss-Prot Summary for HNF1B Gene
Transcription factor, probably binds to the inverted palindrome 5'-GTTAATNATTAAC-3'.