| Nomenclature |
|---|
| HGNC (Hugo) | HNF1B 11630 |
| Cards |
|---|
| Entrez_Gene (NCBI) | HNF1B 6928 HNF1 homeobox B |
| Aliases | FJHN; HNF-1-beta; HNF-1B; HNF1beta; |
| HNF2; HPC11; LF-B3; LFB3; MODY5; TCF-2; TCF2; VHNF1 |
| GeneCards (Weizmann) | HNF1B |
| Ensembl hg19 (Hinxton) | ENSG00000275410 [Gene_View] |
| Ensembl hg38 (Hinxton) | ENSG00000275410 [Gene_View] ENSG00000275410 [Sequence] chr17:37686431-37745078 [Contig_View] HNF1B [Vega] |
| ICGC DataPortal | ENSG00000275410 |
| TCGA cBioPortal | HNF1B |
| AceView (NCBI) | HNF1B |
| Genatlas (Paris) | HNF1B |
| WikiGenes | 6928 |
| SOURCE (Princeton) | HNF1B |
| Genetics Home Reference (NIH) | HNF1B |
| Genomic and cartography |
|---|
| GoldenPath hg38 (UCSC) | HNF1B - chr17:37686431-37745078 - 17q12 [Description] (hg38-Dec_2013) |
| GoldenPath hg19 (UCSC) | HNF1B - 17q12 [Description] (hg19-Feb_2009) |
| GoldenPath | HNF1B - 17q12 [CytoView hg19] HNF1B - 17q12 [CytoView hg38] |
| ImmunoBase | ENSG00000275410 |
| Mapping of homologs : NCBI | HNF1B [Mapview hg19] HNF1B [Mapview hg38] |
| OMIM | 125853 137920 144700 189907 |
| Gene and transcription |
|---|
| Genbank (Entrez) | AI797324 AK290131 AK296633 AK298393 BC017714 |
| RefSeq transcript (Entrez) | NM_000458 NM_001165923 NM_001304286 NM_006481 |
| RefSeq genomic (Entrez) | NC_000017 NG_013019 NT_187614 |
| Consensus coding sequences : CCDS (NCBI) | HNF1B |
| Alternative Splicing Gallery | ENSG00000275410 |
| Gene Expression | HNF1B [ NCBI-GEO ] HNF1B [ EBI - ARRAY_EXPRESS ]
HNF1B [ SEEK ] HNF1B [ MEM ] |
| Gene Expression Viewer (FireBrowse) | HNF1B [ Firebrowse - Broad ] |
| SOURCE (Princeton) | Expression in : [Datasets] [Normal Tissue Atlas] [carcinoma Classsification] [NCI60] |
| Genevestigator | Expression in : [tissues] [cell-lines] [cancer] [perturbations] |
| BioGPS (Tissue expression) | 6928 |
| GTEX Portal (Tissue expression) | HNF1B |
| Human Protein Atlas | ENSG00000275410-HNF1B [pathology] [cell] [tissue] |
| Protein : pattern, domain, 3D structure |
|---|
| UniProt/SwissProt | P35680 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction] |
| NextProt | P35680 [Sequence] [Exons] [Medical] [Publications] |
| With graphics : InterPro | P35680 |
| Splice isoforms : SwissVar | P35680 |
| PhosPhoSitePlus | P35680 |
| Domaine pattern : Prosite (Expaxy) | HOMEOBOX_1 (PS00027) HOMEOBOX_2 (PS50071) |
| Domains : Interpro (EBI) | HNF-1 HNF-1_N HNF1_dimer_N_dom_sf HNF1b_C Homeobox-like_sf Homeobox_dom Lambda_DNA-bd_dom_sf |
| Domain families : Pfam (Sanger) | HNF-1_N (PF04814) HNF-1B_C (PF04812) |
| Domain families : Pfam (NCBI) | pfam04814 pfam04812 |
| Domain families : Smart (EMBL) | HOX (SM00389) |
| Conserved Domain (NCBI) | HNF1B |
| DMDM Disease mutations | 6928 |
| Blocks (Seattle) | HNF1B |
| PDB (RSDB) | 2DA6 2H8R 5K9S |
| PDB Europe | 2DA6 2H8R 5K9S |
| PDB (PDBSum) | 2DA6 2H8R 5K9S |
| PDB (IMB) | 2DA6 2H8R 5K9S |
| Structural Biology KnowledgeBase | 2DA6 2H8R 5K9S |
| SCOP (Structural Classification of Proteins) | 2DA6 2H8R 5K9S |
| CATH (Classification of proteins structures) | 2DA6 2H8R 5K9S |
| Superfamily | P35680 |
| Human Protein Atlas [tissue] | ENSG00000275410-HNF1B [tissue] |
| Peptide Atlas | P35680 |
| HPRD | 08926 |
| IPI | IPI00020078 IPI00219911 IPI00219912 IPI00971034 IPI01015718 |
| Protein Interaction databases |
|---|
| DIP (DOE-UCLA) | P35680 |
| IntAct (EBI) | P35680 |
| FunCoup | ENSG00000275410 |
| BioGRID | HNF1B |
| STRING (EMBL) | HNF1B |
| ZODIAC | HNF1B |
| Ontologies - Pathways |
|---|
| QuickGO | P35680 |
| Ontology : AmiGO | negative regulation of transcription by RNA polymerase II nuclear chromatin DNA-binding transcription factor activity, RNA polymerase II-specific proximal promoter sequence-specific DNA binding endodermal cell fate specification kidney development kidney development inner cell mass cell differentiation DNA-binding transcription factor activity DNA-binding transcription factor activity protein binding nucleus nucleus nucleoplasm transcription factor complex regulation of transcription by RNA polymerase II Notch signaling pathway response to glucose anterior/posterior pattern specification response to organic cyclic compound insulin secretion regulation of Wnt signaling pathway hindbrain development pancreas development circadian regulation of gene expression regulation of pronephros size pronephric nephron tubule development response to drug protein homodimerization activity intracellular membrane-bounded organelle protein-containing complex binding positive regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated protein heterodimerization activity embryonic digestive tract morphogenesis branching morphogenesis of an epithelial tube pronephros development epithelial cell proliferation positive regulation of transcription initiation from RNA polymerase II promoter ureteric bud elongation hepatoblast differentiation negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis protein-DNA complex assembly hepatocyte differentiation regulation of branch elongation involved in ureteric bud branching mesonephric duct formation negative regulation of mesenchymal cell apoptotic process involved in metanephros development |
| Ontology : EGO-EBI | negative regulation of transcription by RNA polymerase II nuclear chromatin DNA-binding transcription factor activity, RNA polymerase II-specific proximal promoter sequence-specific DNA binding endodermal cell fate specification kidney development kidney development inner cell mass cell differentiation DNA-binding transcription factor activity DNA-binding transcription factor activity protein binding nucleus nucleus nucleoplasm transcription factor complex regulation of transcription by RNA polymerase II Notch signaling pathway response to glucose anterior/posterior pattern specification response to organic cyclic compound insulin secretion regulation of Wnt signaling pathway hindbrain development pancreas development circadian regulation of gene expression regulation of pronephros size pronephric nephron tubule development response to drug protein homodimerization activity intracellular membrane-bounded organelle protein-containing complex binding positive regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated protein heterodimerization activity embryonic digestive tract morphogenesis branching morphogenesis of an epithelial tube pronephros development epithelial cell proliferation positive regulation of transcription initiation from RNA polymerase II promoter ureteric bud elongation hepatoblast differentiation negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis protein-DNA complex assembly hepatocyte differentiation regulation of branch elongation involved in ureteric bud branching mesonephric duct formation negative regulation of mesenchymal cell apoptotic process involved in metanephros development |
| Pathways : KEGG | Maturity onset diabetes of the young |
| NDEx Network | HNF1B |
| Atlas of Cancer Signalling Network | HNF1B |
| Wikipedia pathways | HNF1B |
| Orthology - Evolution |
|---|
| OrthoDB | 6928 |
| GeneTree (enSembl) | ENSG00000275410 |
| Phylogenetic Trees/Animal Genes : TreeFam | HNF1B |
| HOGENOM | P35680 |
| Homologs : HomoloGene | HNF1B |
| Homology/Alignments : Family Browser (UCSC) | HNF1B |
| Gene fusions - Rearrangements |
|---|
| Fusion : Mitelman | CHKA/HNF1B [11q13.2/17q12] [t(11;17)(q13;q12)] |
| Fusion Portal | CHKA 11q13.2 HNF1B 17q12 LUAD |
| Fusion : Quiver | HNF1B |
| Polymorphisms : SNP and Copy number variants |
|---|
| NCBI Variation Viewer | HNF1B [hg38] |
| dbSNP Single Nucleotide Polymorphism (NCBI) | HNF1B |
| dbVar | HNF1B |
| ClinVar | HNF1B |
| 1000_Genomes | HNF1B |
| Exome Variant Server | HNF1B |
| ExAC (Exome Aggregation Consortium) | ENSG00000275410 |
| GNOMAD Browser | ENSG00000275410 |
| Varsome Browser | HNF1B |
| Genetic variants : HAPMAP | 6928 |
| Genomic Variants (DGV) | HNF1B [DGVbeta] |
| DECIPHER | HNF1B [patients] [syndromes] [variants] [genes] |
| CONAN: Copy Number Analysis | HNF1B |
| Mutations |
|---|
| ICGC Data Portal | HNF1B |
| TCGA Data Portal | HNF1B |
| Broad Tumor Portal | HNF1B |
| OASIS Portal | HNF1B [ Somatic mutations - Copy number] |
| Mutations and Diseases : HGMD | HNF1B |
| LOVD (Leiden Open Variation Database) | Whole genome datasets |
| LOVD (Leiden Open Variation Database) | LOVD - Leiden Open Variation Database |
| LOVD (Leiden Open Variation Database) | LOVD 3.0 shared installation |
| LOVD (Leiden Open Variation Database) | MSeqDR-LSDB Mitochondrial Disease Locus Specific Database |
| BioMuta | search HNF1B |
| DgiDB (Drug Gene Interaction Database) | HNF1B |
| DoCM (Curated mutations) | HNF1B (select the gene name) |
| CIViC (Clinical Interpretations of Variants in Cancer) | HNF1B (select a term) |
| intoGen | HNF1B |
| Cancer3D | HNF1B(select the gene name) |
| Impact of mutations | [PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser] |
| Diseases |
|---|
| OMIM | 125853 137920 144700 189907 |
| Orphanet | 903 19866 10346 12168 12914 12915 |
| DisGeNET | HNF1B |
| Medgen | HNF1B |
| Genetic Testing Registry | HNF1B
|
| NextProt | P35680 [Medical] |
| TSGene | 6928 |
| GENETests | HNF1B |
| Target Validation | HNF1B |
| Huge Navigator |
HNF1B [HugePedia] |
| snp3D : Map Gene to Disease | 6928 |
| BioCentury BCIQ | HNF1B |
| ClinGen | HNF1B (curated) |
| Clinical trials, drugs, therapy |
|---|
| Chemical/Protein Interactions : CTD | 6928 |
| Chemical/Pharm GKB Gene | PA162391083 |
| Clinical trial | HNF1B |
| Miscellaneous |
|---|
| canSAR (ICR) | HNF1B (select the gene name) |
| DataMed Index | HNF1B |
| Probes |
|---|
| Litterature |
|---|
| PubMed | 257 Pubmed reference(s) in Entrez |
| GeneRIFs | Gene References Into Functions (Entrez) |
| CoreMine | HNF1B |
| EVEX | HNF1B |
| GoPubMed | HNF1B |
| iHOP | HNF1B |
