MS4A4A (membrane spanning 4-domains A4A)

2021-06-01  

Identity

HGNC
MS4A4A
LOCATION
11q12.2
LOCUSID
51338
ALIAS
4SPAN1,CD20-L1,CD20L1,HDCME31P,MS4A4,MS4A7

Other Information

Locus ID:

NCBI: 51338
MIM: 606547
HGNC: 13371
Ensembl: ENSG00000110079

Variants:

dbSNP: 51338
ClinVar: 51338
TCGA: ENSG00000110079
COSMIC: MS4A4A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000110079ENST00000337908Q96JQ5
ENSG00000110079ENST00000343968F8W866
ENSG00000110079ENST00000527056F8W866
ENSG00000110079ENST00000529950H0YE49
ENSG00000110079ENST00000532114Q96JQ5
ENSG00000110079ENST00000649552A0A3B3ITV6

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
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
214608412011Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.716
235732062013Genetic loci associated with Alzheimer's disease and cerebrospinal fluid biomarkers in a Finnish case-control cohort.24
283039022017MS4A4A: a novel cell surface marker for M2 macrophages and plasma cells.14
257171862015The CD20 homologue MS4A4 directs trafficking of KIT toward clathrin-independent endocytosis pathways and thus regulates receptor signaling and recycling.11
280052672017Human gingiva transcriptome during wound healing.6
312632762019The macrophage tetraspan MS4A4A enhances dectin-1-dependent NK cell-mediated resistance to metastasis.4

Citation

Dessen P

MS4A4A (membrane spanning 4-domains A4A)

Atlas Genet Cytogenet Oncol Haematol. 2021-06-01

Online version: http://atlasgeneticsoncology.org/gene/58352/ms4a4a