HNF1B

HNF1B
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2DA6, 2H8R
Identifiers
Aliases	HNF1B, FJHN, HNF-1B, HNF1beta, HNF2, HPC11, LF-B3, LFB3, MODY5, TCF-2, TCF2, VHNF1, HNF-1-beta, HNF1 homeobox B, T2D, ADTKD3, RCAD
External IDs	OMIM: 189907 MGI: 98505 HomoloGene: 396 GeneCards: HNF1B
Gene location (Human) Chr. Chromosome 17 (human)[1] Band 17q12 Start 37,686,431 bp[1] End 37,745,059 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11 C|11 51.23 cM Start 83,740,889 bp[2] End 83,796,645 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in kidney body of pancreas gallbladder islet of Langerhans right uterine tube duodenum right lobe of liver rectum upper lobe of left lung endometrium Top expressed in proximal tubule kidney connecting tubule yolk sac left colon Bowman's capsule medullary collecting duct islet of Langerhans crypt of lieberkuhn of small intestine epithelium of stomach More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding sequence-specific DNA binding protein homodimerization activity DNA-binding transcription factor activity protein binding protein heterodimerization activity transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding RNA polymerase II transcription regulatory region sequence-specific DNA binding cis-regulatory region sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific protein-containing complex binding Cellular component transcription regulator complex nucleoplasm nucleus Biological process Notch signaling pathway pronephros development mesonephric tubule development endoderm development regulation of transcription, DNA-templated response to organic cyclic compound mesonephric duct development endodermal cell fate specification kidney development mesonephric duct formation ureteric bud elongation protein-DNA complex assembly negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis hindbrain development hepatocyte differentiation epithelial cell proliferation insulin secretion negative regulation of apoptotic process negative regulation of transcription by RNA polymerase II response to glucose positive regulation of transcription initiation from RNA polymerase II promoter nephric duct formation circadian regulation of gene expression transcription, DNA-templated regulation of branch elongation involved in ureteric bud branching negative regulation of mesenchymal cell apoptotic process involved in metanephros development epithelium development nephric duct development genitalia development pronephric nephron tubule development positive regulation of transcription, DNA-templated hepatoblast differentiation regulation of Wnt signaling pathway positive regulation of gene expression inner cell mass cell differentiation embryonic morphogenesis kidney morphogenesis embryonic digestive tract morphogenesis liver development regulation of endodermal cell fate specification branching morphogenesis of an epithelial tube response to carbohydrate regulation of pronephros size anterior/posterior pattern specification positive regulation of transcription by RNA polymerase II endocrine pancreas development regulation of transcription by RNA polymerase II pancreas development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6928 21410 Ensembl ENSG00000276194 ENSG00000275410 ENSMUSG00000020679 UniProt P35680 P27889 RefSeq (mRNA) NM_000458 NM_001165923 NM_001304286 NM_006481 NM_001291268 NM_001291269 NM_009330 RefSeq (protein) NP_000449 NP_001159395 NP_001291215 NP_001159395.1 NP_001278197 NP_001278198 NP_033356 Location (UCSC) Chr 17: 37.69 – 37.75 Mb Chr 11: 83.74 – 83.8 Mb PubMed search [3] [4]
Wikidata
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HNF1 homeobox B (hepatocyte nuclear factor 1 homeobox B), also known as HNF1B or transcription factor 2 (TCF2), is a human gene.

Function

HNF1B encodes hepatocyte nuclear factor 1-beta, a protein of the homeobox-containing basic helix-turn-helix family. The HNF1B protein is believed to form heterodimers with another member of this transcription factor family, HNF1A; depending on the HNF1B isoform, the result may be to activate or inhibit transcription of target genes. Deficiency of HNF1B cause abnormal maternal-Zygote transition and early embryogenesis failure.^[5][6] Mutation of HNF1B that disrupts normal function has been identified as the cause of MODY 5 (Maturity-Onset of Diabetes, Type 5). A third human transcript variant is believed to exist based on such a variant in the rat: however, to date such an mRNA species has not been isolated.^[7]

See also

• Hepatocyte nuclear factors

References

Further reading

External links

• HNF1beta+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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