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; OMA:HNF1B - orthologs
Gene location (Human)
Chr.	Chromosome 17 (human)
End	37,745,059 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	83,796,645 bp
RNA expression pattern
	Top expressed in
	body of pancreas; ; gallbladder; ; human kidney; ; mucosa of transverse colon; ; islet of Langerhans; ; right uterine tube; ; duodenum; ; right lobe of liver; ; rectum; ; testicle;
	Top expressed in
	right kidney; ; proximal tubule; ; human kidney; ; connecting tubule; ; yolk sac; ; efferent ductule; ; left colon; ; Bowman's capsule; ; transitional epithelium of urinary bladder; ; medullary collecting duct;
	More reference expression data
	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
	6928
	21410
	ENSG00000276194; ENSG00000275410
	ENSMUSG00000020679
	P35680
	P27889
	NM_000458; NM_001165923; NM_001304286; NM_006481
	NM_001291268; NM_001291269; NM_009330
	NP_000449; NP_001159395; NP_001291215; NP_001159395.1
	NP_001278197; NP_001278198; NP_033356
	Wikidata
View/Edit Human	View/Edit Mouse

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]