Gene: MS4A4A

Alternate names for this Gene: 4SPAN1|CD20-L1|CD20L1|HDCME31P|MS4A4|MS4A7

Gene Summary: This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features, similar intron/exon splice boundaries, and display unique expression patterns in hematopoietic cells and nonlymphoid tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 11

Location in Chromosome : 11q12.2

Description of this Gene: membrane spanning 4-domains A4A

Type of Gene: protein-coding

rs1026254 in MS4A4A gene and Alzheimer's Disease PMID 21460841 2011 Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.

PMID 21627779 2011 Meta-analysis of our data and independent replication datasets allowed us to confirm a novel genome-wide significant association of AD with the membrane-spanning 4-domains subfamily A (MS4A) gene cluster (rs1562990, P = 4.40E-11, odds ratio = 0.88, 95% confidence interval 0.85 to 0.91, n = 10,181 cases and 14,341 controls).

PMID 25778476 2016 A novel Alzheimer disease locus located near the gene encoding tau protein.

PMID 30617256 2019 Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk.

PMID 29777097 2018 GWAS on family history of Alzheimer's disease.

rs1582763 in MS4A4A gene and C-reactive protein measurement PMID 30388399 2018 Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders.