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HNF1B HNF1 homeobox B

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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Diabetes mellitus type 2
MedGen: C0011860OMIM: 125853GeneReviews: Not available
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Familial hypoplastic, glomerulocystic kidney
MedGen: C0431693OMIM: 137920GeneReviews: Not available
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Renal cell carcinoma, nonpapillary
MedGen: C3160732OMIM: 144700GeneReviews: Not available
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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

Genomic context

Location:
17q12
Sequence:
Chromosome: 17; NC_000017.11 (37686431..37745078, complement)
Total number of exons:
11

Links

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