Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2206
Gene name	Membrane spanning 4-domains A2
Gene symbol	MS4A2
Synonyms (NCBI Gene)	APYATOPYFCER1BFCERIIGELIGERIGHER
Chromosome	11
Chromosome location	11q12.1
Summary	The allergic response involves the binding of allergen to receptor-bound IgE followed by cell activation and the release of mediators responsible for the manifestations of allergy. The IgE-receptor, a tetramer composed of an alpha, beta, and 2 disulfide-l

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SNP ID	Visualize variation	Clinical significance	Consequence
rs569108	A>G	Risk-factor	Missense variant, genic downstream transcript variant, coding sequence variant

165

Show/Hide all (165)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017962	hsa-miR-335-5p	Microarray	18185580
MIRT1160980	hsa-miR-122	CLIP-seq
MIRT1160981	hsa-miR-1234	CLIP-seq
MIRT1160982	hsa-miR-125a-3p	CLIP-seq
MIRT1160983	hsa-miR-128	CLIP-seq
MIRT1160984	hsa-miR-129-5p	CLIP-seq
MIRT1160985	hsa-miR-1301	CLIP-seq
MIRT1160986	hsa-miR-134	CLIP-seq
MIRT1160987	hsa-miR-150	CLIP-seq
MIRT1160988	hsa-miR-2355-5p	CLIP-seq
MIRT1160989	hsa-miR-3117-3p	CLIP-seq
MIRT1160990	hsa-miR-3118	CLIP-seq
MIRT1160991	hsa-miR-3135b	CLIP-seq
MIRT1160992	hsa-miR-3149	CLIP-seq
MIRT1160993	hsa-miR-3163	CLIP-seq
MIRT1160994	hsa-miR-3169	CLIP-seq
MIRT1160995	hsa-miR-3652	CLIP-seq
MIRT1160996	hsa-miR-3714	CLIP-seq
MIRT1160997	hsa-miR-411	CLIP-seq
MIRT1160998	hsa-miR-4282	CLIP-seq
MIRT1160999	hsa-miR-4286	CLIP-seq
MIRT1161000	hsa-miR-4430	CLIP-seq
MIRT1161001	hsa-miR-4446-3p	CLIP-seq
MIRT1161002	hsa-miR-4466	CLIP-seq
MIRT1161003	hsa-miR-4492	CLIP-seq
MIRT1161004	hsa-miR-4498	CLIP-seq
MIRT1161005	hsa-miR-4505	CLIP-seq
MIRT1161006	hsa-miR-4659a-5p	CLIP-seq
MIRT1161007	hsa-miR-4659b-5p	CLIP-seq
MIRT1161008	hsa-miR-4660	CLIP-seq
MIRT1161009	hsa-miR-4672	CLIP-seq
MIRT1161010	hsa-miR-4708-5p	CLIP-seq
MIRT1161011	hsa-miR-4715-3p	CLIP-seq
MIRT1161012	hsa-miR-4735-5p	CLIP-seq
MIRT1161013	hsa-miR-4736	CLIP-seq
MIRT1161014	hsa-miR-4759	CLIP-seq
MIRT1161015	hsa-miR-4775	CLIP-seq
MIRT1161016	hsa-miR-483-5p	CLIP-seq
MIRT1161017	hsa-miR-5047	CLIP-seq
MIRT1161018	hsa-miR-548an	CLIP-seq
MIRT1161019	hsa-miR-548q	CLIP-seq
MIRT1161020	hsa-miR-552	CLIP-seq
MIRT1161021	hsa-miR-590-3p	CLIP-seq
MIRT1161022	hsa-miR-675	CLIP-seq
MIRT1161023	hsa-miR-762	CLIP-seq
MIRT1161024	hsa-miR-940	CLIP-seq
MIRT2046200	hsa-miR-127-5p	CLIP-seq
MIRT2046201	hsa-miR-1281	CLIP-seq
MIRT2046202	hsa-miR-147	CLIP-seq
MIRT2046203	hsa-miR-1915	CLIP-seq
MIRT2046204	hsa-miR-1976	CLIP-seq
MIRT2046205	hsa-miR-296-3p	CLIP-seq
MIRT1160992	hsa-miR-3149	CLIP-seq
MIRT1160993	hsa-miR-3163	CLIP-seq
MIRT2046206	hsa-miR-3187-3p	CLIP-seq
MIRT2046207	hsa-miR-3663-5p	CLIP-seq
MIRT2046208	hsa-miR-3686	CLIP-seq
MIRT1160996	hsa-miR-3714	CLIP-seq
MIRT2046209	hsa-miR-371-5p	CLIP-seq
MIRT2046210	hsa-miR-3911	CLIP-seq
MIRT1160997	hsa-miR-411	CLIP-seq
MIRT2046211	hsa-miR-4279	CLIP-seq
MIRT2046212	hsa-miR-4435	CLIP-seq
MIRT2046213	hsa-miR-4652-3p	CLIP-seq
MIRT1161009	hsa-miR-4672	CLIP-seq
MIRT2046214	hsa-miR-4684-5p	CLIP-seq
MIRT2046215	hsa-miR-4701-5p	CLIP-seq
MIRT2046216	hsa-miR-4726-3p	CLIP-seq
MIRT1161013	hsa-miR-4736	CLIP-seq
MIRT2046217	hsa-miR-4742-3p	CLIP-seq
MIRT2046218	hsa-miR-4755-3p	CLIP-seq
MIRT2046219	hsa-miR-4768-5p	CLIP-seq
MIRT2046220	hsa-miR-4781-3p	CLIP-seq
MIRT1161016	hsa-miR-483-5p	CLIP-seq
MIRT2046221	hsa-miR-507	CLIP-seq
MIRT1161018	hsa-miR-548an	CLIP-seq
MIRT2046222	hsa-miR-548s	CLIP-seq
MIRT2046223	hsa-miR-557	CLIP-seq
MIRT2046224	hsa-miR-588	CLIP-seq
MIRT2046225	hsa-miR-606	CLIP-seq
MIRT2046226	hsa-miR-644	CLIP-seq
MIRT2046227	hsa-miR-664	CLIP-seq
MIRT1161024	hsa-miR-940	CLIP-seq
MIRT2275309	hsa-miR-1224-3p	CLIP-seq
MIRT1160981	hsa-miR-1234	CLIP-seq
MIRT2046200	hsa-miR-127-5p	CLIP-seq
MIRT2046201	hsa-miR-1281	CLIP-seq
MIRT1160985	hsa-miR-1301	CLIP-seq
MIRT2275310	hsa-miR-1307	CLIP-seq
MIRT2275311	hsa-miR-145	CLIP-seq
MIRT1160987	hsa-miR-150	CLIP-seq
MIRT2275312	hsa-miR-1913	CLIP-seq
MIRT2046203	hsa-miR-1915	CLIP-seq
MIRT2046204	hsa-miR-1976	CLIP-seq
MIRT1160993	hsa-miR-3163	CLIP-seq
MIRT2275313	hsa-miR-3180-5p	CLIP-seq
MIRT2046206	hsa-miR-3187-3p	CLIP-seq
MIRT2275314	hsa-miR-3199	CLIP-seq
MIRT2275315	hsa-miR-324-3p	CLIP-seq
MIRT2046207	hsa-miR-3663-5p	CLIP-seq
MIRT1160996	hsa-miR-3714	CLIP-seq
MIRT2046209	hsa-miR-371-5p	CLIP-seq
MIRT2275316	hsa-miR-371b-5p	CLIP-seq
MIRT2275317	hsa-miR-3943	CLIP-seq
MIRT1160997	hsa-miR-411	CLIP-seq
MIRT2046211	hsa-miR-4279	CLIP-seq
MIRT2275318	hsa-miR-4323	CLIP-seq
MIRT2046212	hsa-miR-4435	CLIP-seq
MIRT1161002	hsa-miR-4466	CLIP-seq
MIRT2275319	hsa-miR-4638-5p	CLIP-seq
MIRT1161006	hsa-miR-4659a-5p	CLIP-seq
MIRT1161007	hsa-miR-4659b-5p	CLIP-seq
MIRT1161008	hsa-miR-4660	CLIP-seq
MIRT1161009	hsa-miR-4672	CLIP-seq
MIRT2046214	hsa-miR-4684-5p	CLIP-seq
MIRT2046215	hsa-miR-4701-5p	CLIP-seq
MIRT1161010	hsa-miR-4708-5p	CLIP-seq
MIRT2275320	hsa-miR-4712-5p	CLIP-seq
MIRT2275321	hsa-miR-4722-3p	CLIP-seq
MIRT2046216	hsa-miR-4726-3p	CLIP-seq
MIRT1161013	hsa-miR-4736	CLIP-seq
MIRT2046218	hsa-miR-4755-3p	CLIP-seq
MIRT2046219	hsa-miR-4768-5p	CLIP-seq
MIRT2275322	hsa-miR-4772-3p	CLIP-seq
MIRT2046220	hsa-miR-4781-3p	CLIP-seq
MIRT1161016	hsa-miR-483-5p	CLIP-seq
MIRT1161017	hsa-miR-5047	CLIP-seq
MIRT2275323	hsa-miR-513b	CLIP-seq
MIRT1161018	hsa-miR-548an	CLIP-seq
MIRT2046222	hsa-miR-548s	CLIP-seq
MIRT1161020	hsa-miR-552	CLIP-seq
MIRT2275324	hsa-miR-562	CLIP-seq
MIRT2046224	hsa-miR-588	CLIP-seq
MIRT2046225	hsa-miR-606	CLIP-seq
MIRT2275325	hsa-miR-617	CLIP-seq
MIRT2046227	hsa-miR-664	CLIP-seq
MIRT1161022	hsa-miR-675	CLIP-seq
MIRT2275326	hsa-miR-770-5p	CLIP-seq
MIRT1161024	hsa-miR-940	CLIP-seq
MIRT2391090	hsa-miR-1208	CLIP-seq
MIRT2046200	hsa-miR-127-5p	CLIP-seq
MIRT2046201	hsa-miR-1281	CLIP-seq
MIRT1160985	hsa-miR-1301	CLIP-seq
MIRT1160986	hsa-miR-134	CLIP-seq
MIRT2046203	hsa-miR-1915	CLIP-seq
MIRT2046204	hsa-miR-1976	CLIP-seq
MIRT1160990	hsa-miR-3118	CLIP-seq
MIRT2391091	hsa-miR-3138	CLIP-seq
MIRT2391092	hsa-miR-34c-3p	CLIP-seq
MIRT2046211	hsa-miR-4279	CLIP-seq
MIRT2391093	hsa-miR-4318	CLIP-seq
MIRT1161008	hsa-miR-4660	CLIP-seq
MIRT1161009	hsa-miR-4672	CLIP-seq
MIRT2046214	hsa-miR-4684-5p	CLIP-seq
MIRT1161010	hsa-miR-4708-5p	CLIP-seq
MIRT2275321	hsa-miR-4722-3p	CLIP-seq
MIRT2046216	hsa-miR-4726-3p	CLIP-seq
MIRT2046219	hsa-miR-4768-5p	CLIP-seq
MIRT2275322	hsa-miR-4772-3p	CLIP-seq
MIRT2391094	hsa-miR-4800-5p	CLIP-seq
MIRT1161017	hsa-miR-5047	CLIP-seq
MIRT2046200	hsa-miR-127-5p	CLIP-seq
MIRT2046201	hsa-miR-1281	CLIP-seq
MIRT2046203	hsa-miR-1915	CLIP-seq
MIRT2046216	hsa-miR-4726-3p	CLIP-seq

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Transcription factor	Regulation	Reference
GATA2	Activation	24639354

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	NAS	1535625
GO:0005886	Component	Plasma membrane	TAS
GO:0006955	Process	Immune response	IMP	7920628
GO:0007165	Process	Signal transduction	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	IBA
GO:0007166	Process	Cell surface receptor signaling pathway	IEA
GO:0009897	Component	External side of plasma membrane	IBA
GO:0009897	Component	External side of plasma membrane	IEA
GO:0016020	Component	Membrane	IEA
GO:0019863	Function	IgE binding	IEA
GO:0019863	Function	IgE binding	IEA
GO:0032998	Component	Fc-epsilon receptor I complex	IBA
GO:0032998	Component	Fc-epsilon receptor I complex	IEA

MIM	HGNC	e!Ensembl
147138	7316	ENSG00000149534

Q01362

Protein name

High affinity immunoglobulin epsilon receptor subunit beta (FcERI) (Fc epsilon receptor I beta-chain) (IgE Fc receptor subunit beta) (Membrane-spanning 4-domains subfamily A member 2)

Protein function

High affinity receptor that binds to the Fc region of immunoglobulins epsilon. Aggregation of FCER1 by multivalent antigens is required for the full mast cell response, including the release of preformed mediators (such as histamine) by degranul

PDB

8YVU , 8YWA

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04103	CD20	60 → 204	CD20-like family	Family

Tissue specificity

TISSUE SPECIFICITY: Found on the surface of mast cells and basophils.

Sequence

MDTESNRRANLALPQEPSSVPAFEVLEISPQEVSSGRLLKSASSPPLHTWLTVLKKEQEF
LGVTQILTAMICLCFGTVVCSVLDISHIEGDIFSSFKAGYPFWGAIFFSISGMLSIISER
RNATYLVRGSLGANTASSIAGGTGITILIINLKKSLAYIHIHSCQKFFETKCFMASFSTE
IVVMMLFLTILGLGSAVSLTICGAGEELKGNKVPEDRVYEELNIYSATYSELEDPGEMSP
PIDL

Sequence length

244

Interactions

View interactions

	KEGG		Reactome
	Sphingolipid signaling pathway Phospholipase D signaling pathway Fc epsilon RI signaling pathway Asthma		Fc epsilon receptor (FCERI) signaling Role of LAT2/NTAL/LAB on calcium mobilization FCERI mediated MAPK activation FCERI mediated Ca+2 mobilization FCERI mediated NF-kB activation

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)

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA, ASPIRIN-INDUCED	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATITIS, ATOPIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERSENSITIVITY, IMMEDIATE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MS4A2-related disorder	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RECLASSIFIED - MYOC POLYMORPHISM	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHINITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (33)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	26792385		★★★★★ ★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Allergic sensitization	Allergic Sensitization	BEFREE	11101848		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	28650998	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	BEFREE	10712341, 11447385, 11964717, 11964718, 12083957, 12944417, 14586638, 16839401, 16839402, 18931892, 19218813, 21320344, 22376040, 22432035, 22533235 View all (9 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	10712341, 16519819, 19862939, 20554927, 21320344, 22432035, 22533235, 24039878, 24838642, 29761786, 33277970, 38049812, 40189906	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	LHGDN	12903039		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma, Aspirin-Induced	Asthma	CTD_human_DG	16502481		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma of lung	Lung carcinoma	BEFREE	28775209		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	22769019	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	BEFREE	19862939		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome, Type I	Cockayne Syndrome	BEFREE	30278285		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	21539617, 9521597		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eczema	Eczema	BEFREE	21539617, 9521597		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	Pubtator	33277970, 34261469	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
IgE RESPONSIVENESS, ATOPIC	Ige Responsiveness, Atopic	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoconjunctivitis	Keratoconjunctivitis	BEFREE	26706344		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	20554927	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	34155937	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28775209		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28775209		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mastocytosis	Mastocytosis	Pubtator	20554927	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	39828458	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	16519819	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiration Disorders	Respiration Disorders	BEFREE	20046412		★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory Tract Diseases	BEFREE	20046412		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhinitis Allergic	Rhinitis	Pubtator	26792385	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Central	Sleep Apnea	BEFREE	30278285		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	34155937	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin D Deficiency	BEFREE	22686937		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitelliform Macular Dystrophy	Vitelliform Macular Dystrophy	BEFREE	8807324		★★★★★ ★☆☆☆☆ Found in Text Mining only

MS4A2 (membrane spanning 4-domains A2)