Atlas of Genetics and Cytogenetics in Oncology and Haematology


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HNF1B (HNF1 homeobox B)

Identity

Alias_namesTCF2
transcription factor 2
Alias_symbol (synonym)LFB3
VHNF1
HNF1beta
MODY5
Other aliasFJHN
HNF-1-beta
HNF-1B
HNF2
HPC11
LF-B3
TCF-2
HGNC (Hugo) HNF1B
LocusID (NCBI) 6928
Atlas_Id 44558
Location 17q12  [Link to chromosome band 17q12]
Location_base_pair Starts at 37686431 and ends at 37745078 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CHKA (11q13.2) / HNF1B (17q12)HNF1B (17q12) / HNF1B (17q12)NOTCH1 (9q34.3) / HNF1B (17q12)
CHKA 11q13.2 / HNF1B 17q12

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Prostate tumors: an overview


External links

Nomenclature
HGNC (Hugo)HNF1B   11630
Cards
Entrez_Gene (NCBI)HNF1B  6928  HNF1 homeobox B
AliasesFJHN; 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]  chr17:37686431-37745078 [Contig_View]  HNF1B [Vega]
ICGC DataPortalENSG00000275410
TCGA cBioPortalHNF1B
AceView (NCBI)HNF1B
Genatlas (Paris)HNF1B
WikiGenes6928
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)
EnsemblHNF1B - 17q12 [CytoView hg19]  HNF1B - 17q12 [CytoView hg38]
Mapping of homologs : NCBIHNF1B [Mapview hg19]  HNF1B [Mapview hg38]
OMIM125853   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 NC_018928 NG_013019 NT_187614
Consensus coding sequences : CCDS (NCBI)HNF1B
Cluster EST : UnigeneHs.191144 [ NCBI ]
CGAP (NCI)Hs.191144
Alternative Splicing GalleryENSG00000275410
Gene ExpressionHNF1B [ 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]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6928
GTEX Portal (Tissue expression)HNF1B
Protein : pattern, domain, 3D structure
UniProt/SwissProtP35680   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP35680  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP35680
Splice isoforms : SwissVarP35680
PhosPhoSitePlusP35680
Domaine pattern : Prosite (Expaxy)HOMEOBOX_1 (PS00027)    HOMEOBOX_2 (PS50071)   
Domains : Interpro (EBI)HNF-1_N    HNF1_dimer_dom    HNF1b_C    Homeobox-like    Homeobox_dom    Lambda_DNA-bd_dom   
Domain families : Pfam (Sanger)HNF-1_N (PF04814)    HNF-1B_C (PF04812)    Homeobox (PF00046)   
Domain families : Pfam (NCBI)pfam04814    pfam04812    pfam00046   
Domain families : Smart (EMBL)HOX (SM00389)  
Conserved Domain (NCBI)HNF1B
DMDM Disease mutations6928
Blocks (Seattle)HNF1B
PDB (SRS)2DA6    2H8R    5K9S   
PDB (PDBSum)2DA6    2H8R    5K9S   
PDB (IMB)2DA6    2H8R    5K9S   
PDB (RSDB)2DA6    2H8R    5K9S   
Structural Biology KnowledgeBase2DA6    2H8R    5K9S   
SCOP (Structural Classification of Proteins)2DA6    2H8R    5K9S   
CATH (Classification of proteins structures)2DA6    2H8R    5K9S   
SuperfamilyP35680
Human Protein AtlasENSG00000275410
Peptide AtlasP35680
HPRD08926
IPIIPI00020078   IPI00219911   IPI00219912   IPI00971034   IPI01015718   
Protein Interaction databases
DIP (DOE-UCLA)P35680
IntAct (EBI)P35680
FunCoupENSG00000275410
BioGRIDHNF1B
STRING (EMBL)HNF1B
ZODIACHNF1B
Ontologies - Pathways
QuickGOP35680
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II regulatory region sequence-specific DNA binding  core promoter proximal region DNA binding  endodermal cell fate specification  kidney development  kidney development  inner cell mass cell differentiation  transcription factor activity, sequence-specific DNA binding  transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding  protein binding  nucleus  nucleoplasm  transcription factor complex  transcription, DNA-templated  Notch signaling pathway  response to glucose  anterior/posterior pattern specification  response to organic cyclic compound  insulin secretion  regulation of Wnt signaling pathway  hindbrain development  protein complex binding  circadian regulation of gene expression  regulation of pronephros size  pronephric nephron tubule development  response to drug  regulation of endodermal cell fate specification  protein homodimerization activity  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-EBInegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II regulatory region sequence-specific DNA binding  core promoter proximal region DNA binding  endodermal cell fate specification  kidney development  kidney development  inner cell mass cell differentiation  transcription factor activity, sequence-specific DNA binding  transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding  protein binding  nucleus  nucleoplasm  transcription factor complex  transcription, DNA-templated  Notch signaling pathway  response to glucose  anterior/posterior pattern specification  response to organic cyclic compound  insulin secretion  regulation of Wnt signaling pathway  hindbrain development  protein complex binding  circadian regulation of gene expression  regulation of pronephros size  pronephric nephron tubule development  response to drug  regulation of endodermal cell fate specification  protein homodimerization activity  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 : KEGGMaturity onset diabetes of the young   
NDEx NetworkHNF1B
Atlas of Cancer Signalling NetworkHNF1B
Wikipedia pathwaysHNF1B
Orthology - Evolution
OrthoDB6928
GeneTree (enSembl)ENSG00000275410
Phylogenetic Trees/Animal Genes : TreeFamHNF1B
HOVERGENP35680
HOGENOMP35680
Homologs : HomoloGeneHNF1B
Homology/Alignments : Family Browser (UCSC)HNF1B
Gene fusions - Rearrangements
Fusion : MitelmanCHKA/HNF1B [11q13.2/17q12]  [t(11;17)(q13;q12)]  
Fusion: TCGACHKA 11q13.2 HNF1B 17q12 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHNF1B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HNF1B
dbVarHNF1B
ClinVarHNF1B
1000_GenomesHNF1B 
Exome Variant ServerHNF1B
ExAC (Exome Aggregation Consortium)HNF1B (select the gene name)
Genetic variants : HAPMAP6928
Genomic Variants (DGV)HNF1B [DGVbeta]
DECIPHERHNF1B [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHNF1B 
Mutations
ICGC Data PortalHNF1B 
TCGA Data PortalHNF1B 
Broad Tumor PortalHNF1B
OASIS PortalHNF1B [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDHNF1B
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
BioMutasearch 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)
intoGenHNF1B
Cancer3DHNF1B(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM125853    137920    144700    189907   
Orphanet903    19866    10346    12168    12914    12915   
MedgenHNF1B
Genetic Testing Registry HNF1B
NextProtP35680 [Medical]
TSGene6928
GENETestsHNF1B
Target ValidationHNF1B
Huge Navigator HNF1B [HugePedia]
snp3D : Map Gene to Disease6928
BioCentury BCIQHNF1B
ClinGenHNF1B (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6928
Chemical/Pharm GKB GenePA162391083
Clinical trialHNF1B
Miscellaneous
canSAR (ICR)HNF1B (select the gene name)
Probes
Litterature
PubMed217 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHNF1B
EVEXHNF1B
GoPubMedHNF1B
iHOPHNF1B
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 1 17:03:12 CEST 2017

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