AutismKB 2.0

Annotation Details for HNF1B


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Basic Information Top
Gene Symbol:HNF1B ( FJHN,HNF1beta,HNF2,HPC11,LF-B3,LFB3,MODY5,TCF2,VHNF1 )
Gene Full Name: HNF1 homeobox B
Band: 17q12
Quick LinksEntrez ID:6928; OMIM: 189907; Uniprot ID:HNF1B_HUMAN; ENSEMBL ID: ENSG00000108753; HGNC ID: 11630
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IDA-nucleus15355349
GO:0005654IDA-nucleoplasm-
GO:0005667IEA-transcription factor complex-
GO ID Evidence Qualifier GO_term References
GO:0000977IBA-RNA polymerase II regulatory region sequence-specific DNA binding-
GO:0001159IEA-core promoter proximal region DNA binding-
GO:0003700IDA-transcription factor activity, sequence-specific DNA binding16297991
GO:0003705IEA-transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding-
GO:0005515IPI-protein binding21281489
GO:0032403IEA-protein complex binding-
GO:0042803IEA-protein homodimerization activity-
GO:0046982IEA-protein heterodimerization activity-
GO ID Evidence Qualifier GO_term References
GO:0000122IEA-negative regulation of transcription from RNA polymerase II promoter-
GO:0001714IEA-endodermal cell fate specification-
GO:0001822IDA-kidney development21281489
GO:0001822IMP-kidney development10720943
GO:0001826IEA-inner cell mass cell differentiation-
GO:0006351IEA-transcription, DNA-templated-
GO:0007219IEA-Notch signaling pathway-
GO:0009749IEA-response to glucose-
GO:0009952IEA-anterior/posterior pattern specification-
GO:0014070IEA-response to organic cyclic compound-
GO:0030073IEA-insulin secretion-
GO:0030111IEA-regulation of Wnt signaling pathway-
GO:0030902IEA-hindbrain development-
GO:0032922IEA-circadian regulation of gene expression-
GO:0035565IMP-regulation of pronephros size15355349
GO:0039020IGI-pronephric nephron tubule development15355349
GO:0042493IEA-response to drug-
GO:0042663IEA-regulation of endodermal cell fate specification-
GO:0045893IDA-positive regulation of transcription, DNA-templated16297991
GO:0048557IEA-embryonic digestive tract morphogenesis-
GO:0048754IEA-branching morphogenesis of an epithelial tube-
GO:0048793IMP-pronephros development15355349
GO:0050673IEA-epithelial cell proliferation-
GO:0060261IDA-positive regulation of transcription initiation from RNA polymerase II promoter15355349
GO:0060677IEA-ureteric bud elongation-
GO:0061017IEA-hepatoblast differentiation-
GO:0061296IEA-negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis-
GO:0065004IEA-protein-DNA complex assembly-
GO:0070365IEA-hepatocyte differentiation-
GO:0072095IEA-regulation of branch elongation involved in ureteric bud branching-
GO:0072181IEA-mesonephric duct formation-
GO:1900212IEA-negative regulation of mesenchymal cell apoptotic process involved in metanephros development-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
HNF1BATF11069569671480 Two-hybrid
HNF1BATF11127909671480 Two-hybrid
HNF1BCREB11127909671480 Two-hybrid
HNF1BCREB11077759671480 Two-hybrid
HNF1BPCBD111279020211142 Two-hybrid
HNF1BPCBD111112520211142 Two-hybrid
HNF1BHNF1A1127892044952 Reconstituted Complex
HNF1BHNF1A1127902044952 Reconstituted Complex
HIST1H3AHNF1B11394611242053 Reconstituted Complex
HIST1H3AHNF1B11279011242053 Reconstituted Complex
No data
No data
AlzGene, PDGene and SZGene Top
Gene Symbol Poly Names Gene overview in AlzGene
TCF2rs2107133, rs3110641 Gene overview in AlzGene
No data
No data
Animal Model Top
  • MGI ID: MGI:98505
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-020104-1'