HNF1B
Summary: 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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
NameHNF1 homeobox B OMIM IDMIM:189907 Ensembl IDEnsembl:ENSG00000275410 HGNC IDHGNC:HGNC:11630 PHARMGKB IDPA162391083 Map Location17q12 | |||||
GO terms in HNF1B
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IBA | GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding |
| MF | ISA | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | IEA | GO:0000987 | proximal promoter sequence-specific DNA binding |
| MF | IBA | GO:0003700 | DNA-binding transcription factor activity |
| MF | IDA | GO:0003700 | DNA-binding transcription factor activity |
| MF | IEA | GO:0003705 | transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding |
Gene expression in normal tissue: HNF1B
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in HNF1B
Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP2853 | Endoderm Differentiation |
| kegg | hsa04950 | Maturity onset diabetes of the young - Homo sapiens (human) |
| pharmgkb | PA153627758 | Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics |
| reactome | R-HSA-1266738 | Developmental Biology |
| reactome | R-HSA-186712 | Regulation of beta-cell development |
| reactome | R-HSA-210744 | Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in HNF1B
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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