GTR Home > Genes

HNF1B HNF1 homeobox B

Gene ID: 6928, updated on 5-Jan-2022
Gene 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

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

DescriptionTests
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: CN074294OMIM: 144700GeneReviews: Not available
See labs
Renal cysts and diabetes syndromeSee 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: C0011860OMIM: 125853GeneReviews: Not available
See 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

Genomic context

Location:
17q12
Sequence:
Chromosome: 17; NC_000017.11 (37686431..37745059, complement)
Total number of exons:
11

Links

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Support Center