LongevityMap Gene

Gene details

HGNC symbol
H2AFX 
Aliases
H2AX; H2A.X; H2A/X 
Common name
H2A histone family member X 
Description
Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene encodes a replication-independent histone that is a member of the histone H2A family, and generates two transcripts through the use of the conserved stem-loop termination motif, and the polyA addition motif. [provided by RefSeq, Oct 2015]
Cytogenetic Location
11q23.3
UCSC Genome Browser
View 11q23.3 on the UCSC genome browser
OMIM
601772
Ensembl
ENSG00000188486
UniProt/Swiss-Prot
H2AX_HUMAN
Entrez Gene
3014
UniGene
477879
1000 Genomes
1000 Genomes

Homologs in model organisms

Caenorhabditis elegans
his-35
Danio rerio
h2afx
Drosophila melanogaster
His2A:CG33856
Mus musculus
H2afx
Rattus norvegicus
H2afx

In other databases

GenAge human genes
  • This gene is present as H2AFX

Studies (2)

Significant/Non-significant: 1/1

Study 1

Longevity Association
Significant
Population
Danish
Study Design
Alleles in candidate pathways (GH/IGF1 signaling, DNA damage signaling and repair and pro/antioxidants) were investigated for association with longevity in 1089 oldest-old (age 92-93) and 736 middle-aged Danes
Conclusions
Six SNPs (in TNXRD1, XDH, GHRL, MLH1, H2AFX, XRCC5) were associated with mortality in late life after correction for multiple hypothesis testing. No replications were observed in German and Dutch populations.
Indentifier
rs2509049
Reference

    Study 2

    Longevity Association
    Non-significant
    Population
    Danish
    Study Design
    592 SNPs from 77 genes involved in nine sub-processes were analyzed in 1089 long-lived and 736 middle-aged Danes. Then, a replicated study was carried out in a German cohort.
    Conclusions
    The results did not remain significant after correction. The findings drawn from the Danish cohort were not replicated in German samples.
    Indentifier
    rs2509049
    Reference