LongevityMap Gene

Gene details

HGNC symbol: TMEM2
Aliases
Common name: transmembrane protein 2
Description: This gene encodes a type II transmembrane protein that belongs to the interferon-induced transmembrane (IFITM) protein superfamily. The encoded protein functions as a cell surface hyaluronidase that cleaves extracellular high molecular weight hyaluronan into intermediate size fragments before internalization and degradation in the lysosome. It also has an interferon-mediated antiviral function in humans through activation of the JAK STAT signaling pathway. The activation of this gene by transcription factor SOX4 in breast cancer cells has been shown to mediate the pathological effects of SOX4 on cancer progression. Naturally occurring mutations in this gene are associated with autosomal recessive non-syndromic hearing loss. [provided by RefSeq, Mar 2017]
Cytogenetic Location: 9q21.13
UCSC Genome Browser: View 9q21.13 on the UCSC genome browser
OMIM: 605835
Ensembl: ENSG00000135048
UniProt/Swiss-Prot: A0A024R229_HUMAN
Entrez Gene: 23670
UniGene: 494146
1000 Genomes: 1000 Genomes

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

rs12341685

Reference