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
In other databases
- CellAge gene expression
- This gene is present as 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