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    HNF1B HNF1 homeobox B [ Homo sapiens (human) ]

    Gene ID: 6928, updated on 19-Jul-2021

    Summary

    Official Symbol
    HNF1Bprovided by HGNC
    Official Full Name
    HNF1 homeobox Bprovided by HGNC
    Primary source
    HGNC:HGNC:11630
    See related
    Ensembl:ENSG00000275410 MIM:189907
    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
    T2D; FJHN; HNF2; LFB3; RCAD; TCF2; HPC11; LF-B3; MODY5; TCF-2; VHNF1; ADTKD3; 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]
    Expression
    Biased expression in kidney (RPKM 16.9), gall bladder (RPKM 7.3) and 11 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See HNF1B in Genome Data Viewer
    Location:
    17q12
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (37686431..37745059, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (36046434..36105050, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371755 Neighboring gene microRNA 378j Neighboring gene DExD-box helicase 52 Neighboring gene uncharacterized LOC105371756 Neighboring gene uncharacterized LOC107985009 Neighboring gene uncharacterized LOC105371754 Neighboring gene uncharacterized LOC105371757 Neighboring gene Sharpr-MPRA regulatory region 14078

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes loci in Chinese Hans.
    GeneReviews: Not available
    Genetic correction of PSA values using sequence variants associated with PSA levels.
    GeneReviews: Not available
    Genome-wide association and replication studies identify four variants associated with prostate cancer susceptibility.
    GeneReviews: Not available
    Genome-wide association scan for variants associated with early-onset prostate cancer.
    GeneReviews: Not available
    Genome-wide association study identifies a common variant associated with risk of endometrial cancer.
    GeneReviews: Not available
    Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population.
    GeneReviews: Not available
    Genome-wide association study identifies new prostate cancer susceptibility loci.
    GeneReviews: Not available
    Genome-wide association study identifies three novel loci for type 2 diabetes.
    GeneReviews: Not available
    Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
    GeneReviews: Not available
    GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.
    GeneReviews: Not available
    Identification of seven new prostate cancer susceptibility loci through a genome-wide association study.
    GeneReviews: Not available
    Multiple loci identified in a genome-wide association study of prostate cancer.
    GeneReviews: Not available
    Multiple newly identified loci associated with prostate cancer susceptibility.
    GeneReviews: Not available
    Renal cell carcinoma, nonpapillary
    MedGen: CN074294 OMIM: 144700 GeneReviews: Not available
    Compare labs
    Renal cysts and diabetes syndrome Compare labs
    Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.
    GeneReviews: Not available
    Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes.
    GeneReviews: Not available
    Type 2 diabetes mellitus
    MedGen: C0011860 OMIM: 125853 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2020-12-21)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2020-12-21)

    ClinGen Genome Curation PagePubMed

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in circadian regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hepatocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in insulin secretion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in kidney development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in kidney development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in pancreas development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription initiation from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in pronephric nephron tubule development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in pronephros development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein-DNA complex assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of pronephros size IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in response to carbohydrate IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to organic cyclic compound IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    hepatocyte nuclear factor 1-beta
    Names
    HNF1 beta A
    homeoprotein LFB3
    transcription factor 2, hepatic

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5048..63676
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000458.4NP_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
      Consensus CDS
      CCDS11324.1
      UniProtKB/Swiss-Prot
      P35680
      UniProtKB/TrEMBL
      Q6FHW6
      Related
      ENSP00000480291.1, ENST00000617811.5
      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:314550
      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
    2. NM_001165923.4NP_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
      Consensus CDS
      CCDS58538.1
      UniProtKB/Swiss-Prot
      P35680
      UniProtKB/TrEMBL
      E0YMJ6
      Related
      ENSP00000482711.1, ENST00000621123.4
      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_001304286.2NP_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
      ENSP00000477524.1, ENST00000613727.4
      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:288426
      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

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

      Range
      37686431..37745059 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011525164.1XP_011523466.1  hepatocyte nuclear factor 1-beta isoform X5

      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:8173
      HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N terminus
    2. XM_011525161.1XP_011523463.1  hepatocyte nuclear factor 1-beta isoform X2

      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:314485
      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. XM_011525160.1XP_011523462.1  hepatocyte nuclear factor 1-beta isoform X1

      See identical proteins and their annotated locations for XP_011523462.1

      UniProtKB/TrEMBL
      A0A087WZC2
      Related
      ENSP00000482529.1, ENST00000614313.4
      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:8173
      HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N terminus
    4. XM_011525162.2XP_011523464.1  hepatocyte nuclear factor 1-beta isoform X3

      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:314363
      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
    5. XM_011525163.2XP_011523465.1  hepatocyte nuclear factor 1-beta isoform X4

      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:8173
      HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N terminus

    Reference GRCh38.p13 ALT_REF_LOCI_1

    Genomic

    1. NT_187614.1 Reference GRCh38.p13 ALT_REF_LOCI_1

      Range
      1925499..1984115 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.
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