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HNF1B HNF1 homeobox B [ Homo sapiens (human) ]

Gene ID: 6928, updated on 20-Sep-2014
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:OTTHUMG00000133123
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
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]
See HNF1B in Epigenomics, MapViewer
Location:
17q12
Exon count:
9
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 17 NC_000017.11 (37686431..37745105, 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 synergin, gamma Neighboring gene microRNA 378j Neighboring gene DEAD (Asp-Glu-Ala-Asp) box polypeptide 52 Neighboring gene tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon pseudogene 7 Neighboring gene uncharacterized LOC102723595 Neighboring gene TBC1 domain family member-like

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: CN074294 OMIM: 144700 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

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

ISCA Genome Curation Page
Haploinsufficency

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

ISCA 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 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
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
DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IEA
Inferred from Electronic Annotation
more info
 
protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
sequence-specific DNA binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
transcription regulatory region DNA binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
anterior/posterior pattern specification IEA
Inferred from Electronic Annotation
more info
 
branching morphogenesis of an epithelial tube IEA
Inferred from Electronic Annotation
more info
 
embryonic digestive tract morphogenesis IEA
Inferred from Electronic Annotation
more info
 
endocrine pancreas development IMP
Inferred from Mutant Phenotype
more info
PubMed 
endocrine pancreas development TAS
Traceable Author Statement
more info
 
endodermal cell fate specification IEA
Inferred from Electronic Annotation
more info
 
epithelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
genitalia development IMP
Inferred from Mutant Phenotype
more info
PubMed 
hepatoblast 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
 
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 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 
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 glucose IEA
Inferred from Electronic Annotation
more info
 
transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
ureteric bud elongation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
NOT nucleolus IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
transcription factor complex IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
hepatocyte nuclear factor 1-beta
Names
hepatocyte nuclear factor 1-beta
HNF-1-beta
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_013019.1 

    Range
    5001..63663
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000458.2NP_000449.1  hepatocyte nuclear factor 1-beta isoform 1

    See proteins identical to NP_000449.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC091199, AI797324, BC017714, DC340648
    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_001165923.2NP_001159395.1  hepatocyte nuclear factor 1-beta isoform 2

    See proteins identical to 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)
    AC243571, AK296633, BC017714, DC340648
    Consensus CDS
    CCDS58538.1
    UniProtKB/TrEMBL
    E0YMJ6
    UniProtKB/Swiss-Prot
    P35680
    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:288525
    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 106

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

Reference GRCh38 ALT_REF_LOCI_1

Genomic

  1. NT_187614.1 

    Range
    1925499..1984161
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000017.11 

    Range
    37686431..37745105
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000149.1 

    Range
    31984120..32042660
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018928.2 

    Range
    36077994..36136668
    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.