Gene: MS4A3

Alternate names for this Gene: CD20L|HTM4

Gene Summary: This gene encodes a member of the membrane-spanning 4A gene family. Members of this protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. This family member likely plays a role in signal transduction and may function as a subunit associated with receptor complexes. The gene encoding this protein is localized to 11q12, among a cluster of related family members. Alternative splicing may result in multiple transcript variants; however, not all variants have been fully described.

Gene is located in Chromosome: 11

Location in Chromosome : 11q12.1

Description of this Gene: membrane spanning 4-domains A3

Type of Gene: protein-coding

rs474951 in MS4A3 gene and Alzheimer's Disease PMID 24755620 2014 Overrepresentation of glutamate signaling in Alzheimer's disease: network-based pathway enrichment using meta-analysis of genome-wide association studies.

rs2298585 in MS4A3 gene and VITAMIN B12 MEASUREMENT PMID 22367966 2012 Genome-wide association study identifies novel loci associated with serum level of vitamin B12 in Chinese men.

rs1286289 in MS4A3 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.