LongevityMap Gene

Gene details

HGNC symbol
ZBTB20 
Aliases
HOF; DPZF; PRIMS; ODA-8S; ZNF288 
Common name
zinc finger and BTB domain containing 20 
Description
This gene, which was initially designated as dendritic cell-derived BTB/POZ zinc finger (DPZF), belongs to a family of transcription factors with an N-terminal BTB/POZ domain and a C-terminal DNA-bindng zinc finger domain. The BTB/POZ domain is a hydrophobic region of approximately 120 aa which mediates association with other BTB/POZ domain-containing proteins. This gene acts as a transcriptional repressor and plays a role in many processes including neurogenesis, glucose homeostasis, and postnatal growth. Mutations in this gene have been associated with Primrose syndrome as well as the 3q13.31 microdeletion syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2017]
Cytogenetic Location
3q13.31
UCSC Genome Browser
View 3q13.31 on the UCSC genome browser
OMIM
606025
Ensembl
ENSG00000181722
UniProt/Swiss-Prot
B2RCW4_HUMAN
Entrez Gene
26137
UniGene
202577
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
zbtb20
Drosophila melanogaster
lola
Mus musculus
Zbtb20
Rattus norvegicus
Zbtb20

Studies (1)

Significant/Non-significant: 1/0

Longevity Association
Significant
Population
American (Caucasian)
Study Design
Genome-wide association study in 801 centenarians and 914 healthy controls
Conclusions
281 SNPs were found to discriminate between cases and controls
Indentifier
rs10511330
Reference