MS4A18

Summary

MS4A18 (membrane spanning 4-domains A18, HGNC:37636) is a protein-coding gene on chromosome 11q12.2, encoding Membrane-spanning 4-domains subfamily A member 18 (Q3C1V0).

Predicted to be involved in cell surface receptor signaling pathway. Predicted to be located in membrane. Predicted to be active in plasma membrane.

Source: NCBI Gene 728588 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 1 total
• MANE Select transcript: NM_001354471

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:37636
Approved symbol	MS4A18
Name	membrane spanning 4-domains A18
Location	11q12.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000214782
Ensembl biotype	protein_coding
Entrez	728588

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000529108

RefSeq mRNA: 1 — MANE Select: NM_001354471 NM_001354471

Canonical transcript exons

ENST00000529108 — 7 exons

Exon	Start	End
ENSE00001535838	60736978	60737034
ENSE00002145182	60738902	60738997
ENSE00002185876	60733534	60733647
ENSE00002188108	60743650	60745028
ENSE00002190911	60741030	60741143
ENSE00003726811	60729304	60729786
ENSE00003996917	60724720	60724794

Expression profiles

Bgee: expression breadth broad, 18 present calls, max score 88.35.

Top tissues by expression

123 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
duodenum	UBERON:0002114	88.35	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	53.55	gold quality
lymph node	UBERON:0000029	47.64	gold quality
sural nerve	UBERON:0015488	43.10	gold quality
small intestine	UBERON:0002108	40.60	gold quality
granulocyte	CL:0000094	38.85	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
small intestine Peyer’s patch	UBERON:0003454	36.72	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
left testis	UBERON:0004533	36.26	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
testis	UBERON:0000473	36.09	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
right testis	UBERON:0004534	35.44	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
vermiform appendix	UBERON:0001154	33.33	silver quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
right uterine tube	UBERON:0001302	30.79	gold quality
leukocyte	CL:0000738	30.76	gold quality
monocyte	CL:0000576	30.38	gold quality
liver	UBERON:0002107	30.00	silver quality
islet of Langerhans	UBERON:0000006	29.98	silver quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
intestine	UBERON:0000160	27.35	gold quality
blood	UBERON:0000178	26.10	gold quality
gall bladder	UBERON:0002110	25.98	gold quality
prostate gland	UBERON:0002367	25.98	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	2.94

Regulation

Is transcription factor: no

Cross-species orthologs

26 orthologs

Organism	Symbol	Gene ID
danio_rerio	ms4a17a.6	ENSDARG00000007018
danio_rerio	ms4a17a.4	ENSDARG00000014024
danio_rerio	si:dkey-77f5.10	ENSDARG00000020548
danio_rerio	zgc:113425	ENSDARG00000026616
danio_rerio	ms4a17c.2	ENSDARG00000028659
danio_rerio	ms4a17a.7	ENSDARG00000043796
danio_rerio	ms4a17a.1	ENSDARG00000043798
danio_rerio	ms4a17a.8	ENSDARG00000043802
danio_rerio	ms4a17a.12	ENSDARG00000053563
danio_rerio	ms4a17a.16	ENSDARG00000054898
danio_rerio	si:dkey-7j14.6	ENSDARG00000090552
danio_rerio	ms4a17a.3	ENSDARG00000091970
danio_rerio	ms4a17a.5	ENSDARG00000092204
danio_rerio	si:dkey-174k12.3	ENSDARG00000092593
danio_rerio	si:dkey-238j22.1	ENSDARG00000093512
danio_rerio	si:ch73-56d11.5	ENSDARG00000093546
danio_rerio	ms4a17c.1	ENSDARG00000094643
danio_rerio	ms4a17a.11	ENSDARG00000094809
danio_rerio	ms4a17a.9	ENSDARG00000094854
danio_rerio	ms4a17a.10	ENSDARG00000095695
danio_rerio	si:ch73-56d11.3	ENSDARG00000097527
danio_rerio	tmem176l.3a	ENSDARG00000098387
danio_rerio	ms4a17a.2	ENSDARG00000105674
danio_rerio	ms4a17a.17	ENSDARG00000116378
mus_musculus	Ms4a18	ENSMUSG00000094584
rattus_norvegicus	Ms4a18	ENSRNOG00000042330

Paralogs (16): MS4A12 (ENSG00000071203), MS4A6A (ENSG00000110077), MS4A4A (ENSG00000110079), MS4A3 (ENSG00000149516), MS4A2 (ENSG00000149534), MS4A1 (ENSG00000156738), MS4A6E (ENSG00000166926), MS4A7 (ENSG00000166927), MS4A14 (ENSG00000166928), MS4A5 (ENSG00000166930), MS4A8 (ENSG00000166959), MS4A15 (ENSG00000166961), MS4A10 (ENSG00000172689), TMEM212 (ENSG00000186329), MS4A13 (ENSG00000204979), MS4A4E (ENSG00000214787)

Protein

Protein identifiers

Membrane-spanning 4-domains subfamily A member 18 — Q3C1V0 (reviewed: Q3C1V0)

All UniProt accessions (1): Q3C1V0

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Similarity. Belongs to the MS4A family.

RefSeq proteins (1): NP_001341400* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007237	CD20-like_TM	Domain
IPR030417	MS4A	Family

Pfam: PF04103

UniProt features (8 total): transmembrane region 4, compositionally biased region 2, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q3C1V0-F1	54.69	0.24

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 20 (showing top): ZNF410_TARGET_GENES, MIR651_3P, MIR5688, MIR495_3P, GSE10239_KLRG1INT_VS_KLRG1HIGH_EFF_CD8_TCELL_DN, MIR4441, MIR4270, MIR6754_5P, MIR3913_3P, GSE13306_LAMINA_PROPRIA_VS_SPLEEN_TREG_DN, GSE13306_TREG_VS_TCONV_LAMINA_PROPRIA_DN, MIR4433B_3P, GSE7568_CTRL_VS_24H_TGFB_TREATED_MACROPHAGES_WITH_IL4_AND_DEXAMETHASONE_DN, chr11q12, GSE4142_GC_BCELL_VS_MEMORY_BCELL_DN

GO Biological Process (1): cell surface receptor signaling pathway (GO:0007166)

GO Molecular Function (0):

GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
signal transduction	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

44 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MS4A18	MS4A14	Q96JA4	690
MS4A18	OOSP2	Q86WS3	664
MS4A18	TMEM176A	Q96HP8	600
MS4A18	MS4A5	Q9H3V2	532
MS4A18	MS4A6A	Q9H2W1	528
MS4A18	MS4A6E	Q96DS6	525
MS4A18	OOSP1	A8MZH6	506
MS4A18	TCN1	P20061	430
MS4A18	TMEM176B	Q3YBM2	397
MS4A18	MS4A2	Q01362	356
MS4A18	MS4A7	Q9GZW8	349
MS4A18	MS4A3	Q96HJ5	321
MS4A18	MS4A15	Q8N5U1	282
MS4A18	MS4A1	P08984	227
MS4A18	MS4A12	Q9NXJ0	216

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A0A7EPL0, A2RV66, A4QP16, A6QPF4, C4QM85, F4JYG0, O35892, P11836, P13386, P19437, P20490, P41739, P53762, P56645, P70326, P79778, Q01362, Q148B6, Q29131, Q3C1V0, Q3C2E2, Q3SA47, Q3UNB8, Q3V3Q4, Q3YBM2, Q5I2P1, Q5JT82, Q5R8D6, Q5R8E0, Q60HE7, Q68FU0, Q6A058, Q8BVM2, Q8N1N2, Q8NDZ0, Q8QGQ8, Q8WUU8, Q920C4, Q92540, Q96HJ5

Diamond homologs: A6QPF4, P11836, P13386, P19437, P20490, Q01362, Q3C1V0, Q3C2E2, Q3UPL6, Q8N5U1, Q920C4, Q96JA4, Q96JQ5, Q99N05, Q99N07, Q99N09, Q99N10, Q9BY19, Q9H2W1, Q9H3V2, Q9NXJ0, Q96HJ5, Q99N08, Q5REZ6, Q96PG2, Q9GZW8, Q99N03, Q96DS6, Q2YDM3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

1 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

653 predictions. Top by Δscore:

Variant	Effect	Δscore
11:60741026:TTAG:T	acceptor_loss	0.9900
11:60741027:TA:T	acceptor_loss	0.9900
11:60741028:A:AG	acceptor_gain	0.9900
11:60741029:G:GA	acceptor_loss	0.9900
11:60741029:G:GG	acceptor_gain	0.9900
11:60741029:GAC:G	acceptor_gain	0.9900
11:60741029:GACAT:G	acceptor_gain	0.9900
11:60743644:TTTCA:T	acceptor_loss	0.9900
11:60743648:A:AG	acceptor_gain	0.9900
11:60743649:G:GA	acceptor_loss	0.9900
11:60743649:G:GG	acceptor_gain	0.9900
11:60743649:GA:G	acceptor_gain	0.9900
11:60743649:GAAT:G	acceptor_gain	0.9900
11:60729784:GGG:G	donor_gain	0.9800
11:60729785:GGG:G	donor_gain	0.9800
11:60736976:A:AG	acceptor_gain	0.9800
11:60736977:G:GG	acceptor_gain	0.9800
11:60736977:GTAT:G	acceptor_gain	0.9800
11:60738896:CTGCA:C	acceptor_loss	0.9800
11:60738897:TGCA:T	acceptor_loss	0.9800
11:60738898:GCAG:G	acceptor_loss	0.9800
11:60738899:CAGGT:C	acceptor_loss	0.9800
11:60738900:A:C	acceptor_loss	0.9800
11:60738901:G:GA	acceptor_loss	0.9800
11:60741029:GA:G	acceptor_gain	0.9800
11:60741142:AGGT:A	donor_loss	0.9800
11:60741143:GGT:G	donor_loss	0.9800
11:60741144:G:T	donor_loss	0.9800
11:60741145:T:G	donor_loss	0.9800
11:60729786:GGTG:G	donor_loss	0.9700

AlphaMissense

2584 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:60738932:A:C	S227R	0.984
11:60738934:C:A	S227R	0.984
11:60738934:C:G	S227R	0.984
11:60738911:A:C	S220R	0.983
11:60738913:C:A	S220R	0.983
11:60738913:C:G	S220R	0.983
11:60733552:G:C	G166R	0.977
11:60733553:G:A	G166D	0.977
11:60733556:T:C	L167P	0.976
11:60738953:G:T	G234W	0.972
11:60733633:T:A	W193R	0.971
11:60733633:T:C	W193R	0.971
11:60741108:T:C	F275L	0.971
11:60741110:T:A	F275L	0.971
11:60741110:T:G	F275L	0.971
11:60738925:C:A	N224K	0.969
11:60738925:C:G	N224K	0.969
11:60729757:T:C	F148L	0.968
11:60729759:C:A	F148L	0.968
11:60729759:C:G	F148L	0.968
11:60738953:G:A	G234R	0.965
11:60738953:G:C	G234R	0.965
11:60741066:T:C	F261L	0.963
11:60741068:T:A	F261L	0.963
11:60741068:T:G	F261L	0.963
11:60741093:T:C	C270R	0.963
11:60733639:G:A	G195R	0.960
11:60733639:G:C	G195R	0.960
11:60741080:G:C	E265D	0.958
11:60741080:G:T	E265D	0.958

dbSNP variants (sampled 300 via entrez): RS1000313650 (11:60732640 A>T), RS1000360726 (11:60732749 A>C,G), RS1000414204 (11:60727286 G>A), RS1000550186 (11:60723595 T>G), RS1000847975 (11:60737946 C>T), RS1000917477 (11:60731376 C>T), RS1001153277 (11:60737585 C>T), RS1001179971 (11:60739250 C>T), RS1001271821 (11:60738488 G>A), RS1001406210 (11:60732957 G>T), RS1001442020 (11:60744458 G>C), RS1001480432 (11:60745091 G>A), RS1001560045 (11:60726311 A>G), RS1001579173 (11:60745363 C>A), RS1001591089 (11:60726628 T>G)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

2 total (human), top 2 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.