MS4A6A (membrane spanning 4-domains A6A)

Gene

• Entrez ID: 64231
• Gene name: Membrane spanning 4-domains A6A
• Gene symbol: MS4A6A
• Synonyms (NCBI Gene): 4SPAN3, 4SPAN3.2, CD20L3, CDA01, MS4A6, MST090, MSTP090
• Chromosome: 11
• Chromosome location: 11q12.2
• 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2046228	hsa-miR-3192	CLIP-seq
MIRT2046229	hsa-miR-4314	CLIP-seq
MIRT2046230	hsa-miR-4424	CLIP-seq
MIRT2046231	hsa-miR-4646-5p	CLIP-seq
MIRT2046232	hsa-miR-491-3p	CLIP-seq
MIRT2046233	hsa-miR-501-3p	CLIP-seq
MIRT2046234	hsa-miR-502-3p	CLIP-seq
MIRT2275335	hsa-miR-3120-5p	CLIP-seq
MIRT2046228	hsa-miR-3192	CLIP-seq
MIRT2046229	hsa-miR-4314	CLIP-seq
MIRT2046231	hsa-miR-4646-5p	CLIP-seq
MIRT2275336	hsa-miR-4778-5p	CLIP-seq
MIRT2454526	hsa-miR-3140-3p	CLIP-seq
MIRT2454526	hsa-miR-3140-3p	CLIP-seq
MIRT2454526	hsa-miR-3140-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005802	Component	Trans-Golgi network	IBA
GO:0005802	Component	Trans-Golgi network	IDA	23874341
GO:0005886	Component	Plasma membrane	IBA
GO:0007166	Process	Cell surface receptor signaling pathway	IBA
GO:0016020	Component	Membrane	IEA

Other IDs

• MIM: 606548
• HGNC: 13375
• e!Ensembl: ENSG00000110077

Protein

• UniProt ID: Q9H2W1
• Protein name: Membrane-spanning 4-domains subfamily A member 6A (CD20 antigen-like 3) (Four-span transmembrane protein 3)
• Protein function: May be involved in signal transduction as a component of a multimeric receptor complex.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04103	CD20	47 → 208	CD20-like family	Family

• Tissue specificity: TISSUE SPECIFICITY: Variable expression in some B-cell, myelomonocytic, and erythroleukemia cell lines.
• Sequence:

  MTSQPVPNETIIVLPSNVINFSQAEKPEPTNQGQDSLKKHLHAEIKVIGTIQILCGMMVL
  SLGIILASASFSPNFTQVTSTLLNSAYPFIGPFFFIISGSLSIATEKRLTKLLVHSSLVG
  SILSALSALVGFIILSVKQATLNPASLQCELDKNNIPTRSYVSYFYHDSLYTTDCYTAKA
  SLAGTLSLMLICTLLEFCLAVLTAVLRWKQAYSDFPGSVLFLPHSYIGNSGMSSKMTHDC
  GYEELLTS

• Sequence length: 248

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE, DIASTOLIC	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA GLOMERULONEPHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEWY BODY DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	22445811, 23226438, 23360175, 23954108, 25189118, 25778476, 26365416, 27244883, 28650998, 29179108, 30448613, 31144443, 32588970, 33712570, 34092785, 34767070, 35436980, 35537244, 37253165, 37658429, 39751715	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	22722634, 23954108, 25189118, 26365416, 27516385, 28477215, 29179108, 29504051		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	GWASDB_DG	21460841, 21627779		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	30617256		★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	27244883	Associate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	25189118	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	24438528	Associate	★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	Pubtator	36973348	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	26506879	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	36119086	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure, Diastolic	Heart Failure	CTD_human_DG	29556499		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA Glomerulonephritis	Glomerulonephritis	CTD_human_DG	25133636		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	36969247	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	38130724	Associate	★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	24064185, 25189118		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	36119086	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	36973348	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	32444534	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	27085534		★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	38130724	Associate	★☆☆☆☆ Found in Text Mining only