Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

    HNF1B HNF1 homeobox B [ Homo sapiens (human) ]

    Gene ID: 6928, updated on 17-Jul-2016
    Official Symbol
    HNF1Bprovided by HGNC
    Official Full Name
    HNF1 homeobox Bprovided by HGNC
    Primary source
    HGNC:HGNC:11630
    See related
    Ensembl:ENSG00000275410 HPRD:08926; MIM:189907; Vega:OTTHUMG00000188478
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FJHN; HNF2; LFB3; TCF2; HPC11; LF-B3; MODY5; TCF-2; VHNF1; HNF-1B; HNF1beta; HNF-1-beta
    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]
    Orthologs
    Location:
    17q12
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 17 NC_000017.11 (37686431..37745078, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (36046434..36105096, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371755 Neighboring gene microRNA 378j Neighboring gene DEAD-box helicase 52 Neighboring gene uncharacterized LOC105371756 Neighboring gene uncharacterized LOC107985009 Neighboring gene uncharacterized LOC105371754 Neighboring gene uncharacterized LOC105371757 Neighboring gene tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon pseudogene 7

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Diabetes mellitus type 2
    MedGen: C0011860 OMIM: 125853 GeneReviews: Not available
    Compare labs
    Familial hypoplastic, glomerulocystic kidney
    MedGen: C0431693 OMIM: 137920 GeneReviews: Not available
    Compare labs
    Renal cell carcinoma, nonpapillary
    MedGen: C3160732 OMIM: 144700 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-04-19)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-04-19)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes loci in Chinese Hans.
    NHGRI GWA Catalog
    Genetic correction of PSA values using sequence variants associated with PSA levels.
    NHGRI GWA Catalog
    Genome-wide association and replication studies identify four variants associated with prostate cancer susceptibility.
    NHGRI GWA Catalog
    Genome-wide association scan for variants associated with early-onset prostate cancer.
    NHGRI GWA Catalog
    Genome-wide association study identifies a common variant associated with risk of endometrial cancer.
    NHGRI GWA Catalog
    Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population.
    NHGRI GWA Catalog
    Genome-wide association study identifies new prostate cancer susceptibility loci.
    NHGRI GWA Catalog
    Genome-wide association study identifies three novel loci for type 2 diabetes.
    NHGRI GWA Catalog
    Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
    NHGRI GWA Catalog
    GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.
    NHGRI GWA Catalog
    Identification of seven new prostate cancer susceptibility loci through a genome-wide association study.
    NHGRI GWA Catalog
    Multiple loci identified in a genome-wide association study of prostate cancer.
    NHGRI GWA Catalog
    Multiple newly identified loci associated with prostate cancer susceptibility.
    NHGRI GWA Catalog
    Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.
    NHGRI GWA Catalog
    Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA polymerase II regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    core promoter proximal region DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein complex binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein heterodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein homodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding IEA
    Inferred from Electronic Annotation
    more info
     
    transcription factor activity, sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    Notch signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    anterior/posterior pattern specification IEA
    Inferred from Electronic Annotation
    more info
     
    branching morphogenesis of an epithelial tube IEA
    Inferred from Electronic Annotation
    more info
     
    circadian regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic digestive tract morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    endodermal cell fate specification IEA
    Inferred from Electronic Annotation
    more info
     
    epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    hepatoblast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    hepatocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    hindbrain development IEA
    Inferred from Electronic Annotation
    more info
     
    inner cell mass cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    insulin secretion IEA
    Inferred from Electronic Annotation
    more info
     
    kidney development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    kidney development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mesonephric duct formation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of mesenchymal cell apoptotic process involved in metanephros development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription initiation from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    pronephric nephron tubule development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    pronephros development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein-DNA complex assembly IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of branch elongation involved in ureteric bud branching IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of endodermal cell fate specification IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of pronephros size IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    response to glucose IEA
    Inferred from Electronic Annotation
    more info
     
    response to organic cyclic compound IEA
    Inferred from Electronic Annotation
    more info
     
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    ureteric bud elongation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription factor complex IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    hepatocyte nuclear factor 1-beta
    Names
    HNF1 beta A
    homeoprotein LFB3
    transcription factor 2, hepatic

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_013019.2 RefSeqGene

      Range
      5029..63676
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000458.3NP_000449.1  hepatocyte nuclear factor 1-beta isoform 1

      See identical proteins and their annotated locations for NP_000449.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BC017714, X58840
      Consensus CDS
      CCDS11324.1
      UniProtKB/Swiss-Prot
      P35680
      UniProtKB/TrEMBL
      Q6FHW6
      Related
      ENSP00000480291, OTTHUMP00000276693, ENST00000617811, OTTHUMT00000477393
      Conserved Domains (3) summary
      cd00086
      Location:232305
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      pfam04812
      Location:314551
      HNF-1B_C; Hepatocyte nuclear factor 1 (HNF-1), beta isoform C terminus
      pfam04814
      Location:1182
      HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N terminus
    2. NM_001165923.3NP_001159395.1  hepatocyte nuclear factor 1-beta isoform 2

      See identical proteins and their annotated locations for NP_001159395.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AK296633, BC017714, X58840
      Consensus CDS
      CCDS58538.1
      UniProtKB/Swiss-Prot
      P35680
      UniProtKB/TrEMBL
      E0YMJ6
      Related
      ENSP00000482711, OTTHUMP00000276694, ENST00000621123, OTTHUMT00000477394
      Conserved Domains (3) summary
      cd00086
      Location:206279
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      pfam04812
      Location:288524
      HNF-1B_C; Hepatocyte nuclear factor 1 (HNF-1), beta isoform C terminus
      pfam04814
      Location:8173
      HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N terminus
    3. NM_001304286.1NP_001291215.1  hepatocyte nuclear factor 1-beta isoform 3

      See identical proteins and their annotated locations for NP_001291215.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 3' UTR, uses an alternate in-frame splice site in the central coding region, and lacks two alternate exons in the 3' coding region, resulting in a frameshift compared to variant 1. The resulting isoform (3) is shorter, and contains a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      BC017714, HM116556, X58840
      Consensus CDS
      CCDS77007.1
      UniProtKB/Swiss-Prot
      P35680
      UniProtKB/TrEMBL
      A0A0C4DGS8
      Related
      ENSP00000477524, OTTHUMP00000276696, ENST00000613727, OTTHUMT00000477396
      Conserved Domains (3) summary
      cd00086
      Location:206279
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      pfam04812
      Location:288423
      HNF-1B_C; Hepatocyte nuclear factor 1 (HNF-1), beta isoform C terminus
      pfam04814
      Location:1182
      HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N terminus

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p7 Primary Assembly

      Range
      37686431..37745078 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011525164.1XP_011523466.1  

      See identical proteins and their annotated locations for XP_011523466.1

      Conserved Domains (3) summary
      cd00086
      Location:206279
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      pfam04812
      Location:288488
      HNF-1B_C; Hepatocyte nuclear factor 1 (HNF-1), beta isoform C terminus
      pfam04814
      Location:1182
      HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N terminus
    2. XM_011525161.1XP_011523463.1  

      See identical proteins and their annotated locations for XP_011523463.1

      Conserved Domains (3) summary
      cd00086
      Location:232305
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      pfam04812
      Location:314486
      HNF-1B_C; Hepatocyte nuclear factor 1 (HNF-1), beta isoform C terminus
      pfam04814
      Location:1182
      HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N terminus
    3. XM_011525160.1XP_011523462.1  

      See identical proteins and their annotated locations for XP_011523462.1

      UniProtKB/TrEMBL
      A0A087WZC2
      Related
      ENSP00000482529, OTTHUMP00000276695, ENST00000614313, OTTHUMT00000477395
      Conserved Domains (3) summary
      cd00086
      Location:232305
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      pfam04812
      Location:314514
      HNF-1B_C; Hepatocyte nuclear factor 1 (HNF-1), beta isoform C terminus
      pfam04814
      Location:1182
      HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N terminus
    4. XM_011525162.2XP_011523464.1  

      See identical proteins and their annotated locations for XP_011523464.1

      Conserved Domains (3) summary
      cd00086
      Location:232305
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      pfam04812
      Location:314380
      HNF-1B_C; Hepatocyte nuclear factor 1 (HNF-1), beta isoform C terminus
      pfam04814
      Location:1182
      HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N terminus
    5. XM_011525163.2XP_011523465.1  

      See identical proteins and their annotated locations for XP_011523465.1

      Conserved Domains (3) summary
      cd00086
      Location:232305
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      pfam04812
      Location:314349
      HNF-1B_C; Hepatocyte nuclear factor 1 (HNF-1), beta isoform C terminus
      pfam04814
      Location:1182
      HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N terminus

    Reference GRCh38.p7 ALT_REF_LOCI_1

    Genomic

    1. NT_187614.1 Reference GRCh38.p7 ALT_REF_LOCI_1

      Range
      1925499..1984134 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

      Range
      36077994..36136641 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_006481.1: Suppressed sequence

      Description
      NM_006481.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.