MS4A6A (membrane spanning 4-domains A6A)

2014-11-01  

Identity

HGNC
MS4A6A
LOCATION
11q12.2
LOCUSID
64231
ALIAS
4SPAN3,4SPAN3.2,CD20L3,CDA01,MS4A6,MST090,MSTP090
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
364248952023Identification of redundancy between human FcεRIβ and MS4A6A proteins points toward additional complex mechanisms for FcεRI trafficking and signaling.4
364248952023Identification of redundancy between human FcεRIβ and MS4A6A proteins points toward additional complex mechanisms for FcεRI trafficking and signaling.4
295040512018Updated Meta-Analysis of BIN1, CR1, MS4A6A, CLU, and ABCA7 Variants in Alzheimer's Disease.24
295040512018Updated Meta-Analysis of BIN1, CR1, MS4A6A, CLU, and ABCA7 Variants in Alzheimer's Disease.24
273372272017APOE and MS4A6A interact with GnRH signaling in Alzheimer's disease: Enrichment of epistatic effects.5
284772152017Validating GWAS Variants from Microglial Genes Implicated in Alzheimer's Disease.21
273372272017APOE and MS4A6A interact with GnRH signaling in Alzheimer's disease: Enrichment of epistatic effects.5
284772152017Validating GWAS Variants from Microglial Genes Implicated in Alzheimer's Disease.21
269234042016Common variants in ABCA7 and MS4A6A are associated with cortical and hippocampal atrophy.31
270840672016Mutation analysis of the MS4A and TREM gene clusters in a case-control Alzheimer's disease data set.15
270855342016The GBA, DYRK1A and MS4A6A polymorphisms influence the age at onset of Chinese Parkinson patients.7
272448832016MS4A6A genotypes are associated with the atrophy rates of Alzheimer's disease related brain structures.11
269234042016Common variants in ABCA7 and MS4A6A are associated with cortical and hippocampal atrophy.31
270840672016Mutation analysis of the MS4A and TREM gene clusters in a case-control Alzheimer's disease data set.15
270855342016The GBA, DYRK1A and MS4A6A polymorphisms influence the age at onset of Chinese Parkinson patients.7

Citation

Dessen P

MS4A6A (membrane spanning 4-domains A6A)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

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