HNF1B HNF1 homeobox B
Gene ID: 6928, updated on 2-Nov-2024Gene type: protein coding
Also known as: T2D; FJHN; HNF2; LFB3; RCAD; TCF2; HPC11; LF-B3; MODY5; TCF-2; VHNF1; ADTKD3; HNF-1B; HNF1beta; HNF-1-beta
- See all available tests in GTR for this gene
- Go to complete Gene record for HNF1B
- Go to Variation Viewer for HNF1B variants
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]
Associated conditions
See all available tests in GTR for this gene
| 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 | |
| Nonpapillary renal cell carcinoma | See labs |
| Renal cysts and diabetes syndrome MedGen: C0431693OMIM: 137920GeneReviews: 17q12 Recurrent Deletion Syndrome, Maturity-Onset Diabetes of the Young Overview | See 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 | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2020-12-21) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2020-12-21) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 17q12
- Sequence:
- Chromosome: 17; NC_000017.11 (37686431..37745059, complement)
- Total number of exons:
- 11
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for HNF1B variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- HNF1B database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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