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

Danio rerio
hnf1ba
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