Gene: MS4A6A

Alternate names for this Gene: 4SPAN3|4SPAN3.2|CD20L3|CDA01|MS4A6|MST090|MSTP090

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 and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. The gene encoding this protein is localized to 11q12.1, among a cluster of family members. Alternative splicing of this gene results in several transcript variants that encode different protein isoforms.

Gene is located in Chromosome: 11

Location in Chromosome : 11q12.2

Description of this Gene: membrane spanning 4-domains A6A

Type of Gene: protein-coding

rs12453 in MS4A6A 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 The membrane-spanning 4-domains, subfamily A (MS4A) gene cluster contains a common variant associated with Alzheimer's disease.

PMID 21460840 2011 Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease.

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

rs7935829 in MS4A6A gene and Factor VII measurement PMID 30642921 2019 A genome-wide association study identifies new loci for factor VII and implicates factor VII in ischemic stroke etiology.

rs1019670 in MS4A6A gene and Fibrinogen assay PMID 23969696 2013 Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.

PMID 28107422 2017 Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study.

rs7232 in MS4A6A gene and Fibrinogen, CTCAE PMID 23969696 2013 Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.

rs610932 in MS4A6A gene and Prion Diseases PMID 22210626 2012 Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP.

rs7232 in MS4A6A gene and fibrinogen activity PMID 23969696 2013 Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.