MS4A6A (membrane spanning 4-domains A6A)

2014-11-01  

Identity

HGNC
LOCATION
11q12.2
LOCUSID
ALIAS
4SPAN3,4SPAN3.2,CD20L3,CDA01,MS4A6,MST090,MSTP090
FUSION GENES

Other Information

Locus ID:

NCBI: 64231
MIM: 606548
HGNC: 13375
Ensembl: ENSG00000110077

Variants:

dbSNP: 64231
ClinVar: 64231
TCGA: ENSG00000110077
COSMIC: MS4A6A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000110077ENST00000412309Q9H2W1
ENSG00000110077ENST00000420732Q9H2W1
ENSG00000110077ENST00000426738Q9H2W1
ENSG00000110077ENST00000527254E9PJ78
ENSG00000110077ENST00000528851Q9H2W1
ENSG00000110077ENST00000528851A0A024R516
ENSG00000110077ENST00000529054E9PSA9
ENSG00000110077ENST00000530839Q9H2W1
ENSG00000110077ENST00000530839A0A024R554
ENSG00000110077ENST00000531531E9PMN8
ENSG00000110077ENST00000532169Q9H2W1
ENSG00000110077ENST00000533023G5EA21
ENSG00000110077ENST00000533409E9PNG6
ENSG00000110077ENST00000533989H0YEM2
ENSG00000110077ENST00000534596E9PL03

Expression (GTEx)

0
50
100
150

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
214608402011Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease.685
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.27
204530002010A Large-scale genetic association study of esophageal adenocarcinoma risk.23
223823092012The prevalence of CD33 and MS4A6A variant in Chinese Han population with Alzheimer's disease.17
269234042016Common variants in ABCA7 and MS4A6A are associated with cortical and hippocampal atrophy.17
240641852014Alzheimer's disease susceptibility variants in the MS4A6A gene are associated with altered levels of MS4A6A expression in blood.11
284772152017Validating GWAS Variants from Microglial Genes Implicated in Alzheimer's Disease.11
270840672016Mutation analysis of the MS4A and TREM gene clusters in a case-control Alzheimer's disease data set.8
272448832016MS4A6A genotypes are associated with the atrophy rates of Alzheimer's disease related brain structures.6
295040512018Updated Meta-Analysis of BIN1, CR1, MS4A6A, CLU, and ABCA7 Variants in Alzheimer's Disease.5

Citation

Dessen P

MS4A6A (membrane spanning 4-domains A6A)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70508/ms4a6a