LongevityMap Gene
Gene details
- HGNC symbol
- HNF1B
- Aliases
- FJHN; HNF2; LFB3; TCF2; HPC11; LF-B3; MODY5; TCF-2; VHNF1; HNF-1B; HNF1beta; HNF-1-beta
- Common name
- HNF1 homeobox B
- Description
- 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]
- Cytogenetic Location
- 17q12
- UCSC Genome Browser
- View 17q12 on the UCSC genome browser
- OMIM
- 189907
- Ensembl
- ENSG00000275410
- UniProt/Swiss-Prot
- A0A087WZC2_HUMAN
- Entrez Gene
- 6928
- UniGene
- 191144
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
- Caenorhabditis elegans
- hmbx-1
- Danio rerio
- hnf1ba
- Danio rerio
- hnf1bb
- Mus musculus
- Hnf1b
- Rattus norvegicus
- Hnf1b
Studies (1)
Significant/Non-significant: 0/1
- Longevity Association
- Non-significant
- Population
- Dutch
- Study Design
- A set of alleles associated with age-related diseases was tested for association with human longevity in 723 nonagenarian siblings and 721 unrelated younger controls plus 979 singleton individuals >85 years of age and 1,167 younger controls
- Conclusions
- No differences were observed in disease risk allele frequency between long-lived individuals and controls. No individual allele was significantly associated with survival to old age after controlling for multiple testing.
- Indentifier
- rs757210
- Reference