MS4A6A

Summary

MS4A6A (membrane spanning 4-domains A6A, HGNC:13375) is a protein-coding gene on chromosome 11q12.2, encoding Membrane-spanning 4-domains subfamily A member 6A (Q9H2W1). May be involved in signal transduction as a component of a multimeric receptor complex.

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 cells and nonlymphoid tissues. The gene encoding this protein is localized to 11q12.1, among a cluster of family members. Alternative splicing of this gene results in several transcript variants that encode different protein isoforms.

Source: NCBI Gene 64231 — RefSeq curated summary.

At a glance

• GWAS associations: 28
• Clinical variants (ClinVar): 40 total
• MANE Select transcript: NM_022349

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13375
Approved symbol	MS4A6A
Name	membrane spanning 4-domains A6A
Location	11q12.2
Locus type	gene with protein product
Status	Approved
Aliases	CD20L3
Ensembl gene	ENSG00000110077
Ensembl biotype	protein_coding
OMIM	606548
Entrez	64231

Gene structure

Transcript identifiers

Ensembl transcripts: 26 — 17 protein_coding, 6 retained_intron, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000412309, ENST00000420732, ENST00000426738, ENST00000525549, ENST00000526677, ENST00000526697, ENST00000527254, ENST00000528851, ENST00000528925, ENST00000529054, ENST00000529906, ENST00000530179, ENST00000530839, ENST00000531531, ENST00000531914, ENST00000532169, ENST00000533023, ENST00000533409, ENST00000533660, ENST00000533989, ENST00000534596, ENST00000874249, ENST00000874250, ENST00000874251, ENST00000874252, ENST00000962193

RefSeq mRNA: 5 — MANE Select: NM_022349 NM_001247999, NM_001330275, NM_022349, NM_152851, NM_152852

CCDS: CCDS44615, CCDS44616, CCDS58134, CCDS7981, CCDS81568

Canonical transcript exons

ENST00000528851 — 6 exons

Exon	Start	End
ENSE00001629529	60172497	60173129
ENSE00002192950	60182978	60183083
ENSE00003464838	60181581	60181741
ENSE00003466261	60175402	60175611
ENSE00003607395	60178260	60178316
ENSE00003677406	60179831	60179965

Expression profiles

Bgee: expression breadth ubiquitous, 259 present calls, max score 99.67.

FANTOM5 (CAGE): breadth broad, TPM avg 25.6944 / max 1862.7127, expressed in 494 samples.

FANTOM5 promoters (13 alternative TSS)

Promoter ID	TPM avg	Samples expressed
119894	20.8699	466
119893	2.2978	300
119896	0.6087	195
119895	0.5118	177
119892	0.2798	101
119900	0.2660	88
119901	0.2568	75
119902	0.2478	78
119897	0.1395	73
119899	0.0956	35

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
monocyte	CL:0000576	99.67	gold quality
mononuclear cell	CL:0000842	99.62	gold quality
leukocyte	CL:0000738	99.60	gold quality
granulocyte	CL:0000094	99.43	gold quality
gall bladder	UBERON:0002110	98.72	gold quality
right coronary artery	UBERON:0001625	98.51	gold quality
spleen	UBERON:0002106	98.15	gold quality
rectum	UBERON:0001052	97.91	gold quality
blood	UBERON:0000178	97.35	gold quality
synovial joint	UBERON:0002217	97.28	gold quality
lymph node	UBERON:0000029	97.06	gold quality
mucosa of stomach	UBERON:0001199	97.00	gold quality
right lung	UBERON:0002167	96.74	gold quality
vermiform appendix	UBERON:0001154	96.62	gold quality
small intestine Peyer’s patch	UBERON:0003454	96.34	gold quality
descending thoracic aorta	UBERON:0002345	96.28	gold quality
right adrenal gland cortex	UBERON:0035827	96.26	gold quality
omental fat pad	UBERON:0010414	96.19	gold quality
peritoneum	UBERON:0002358	96.15	gold quality
upper lobe of left lung	UBERON:0008952	95.61	gold quality
adipose tissue of abdominal region	UBERON:0007808	95.47	gold quality
right adrenal gland	UBERON:0001233	95.32	gold quality
calcaneal tendon	UBERON:0003701	95.32	gold quality
upper lobe of lung	UBERON:0008948	95.30	gold quality
layer of synovial tissue	UBERON:0007616	95.12	gold quality
left coronary artery	UBERON:0001626	95.10	gold quality
left adrenal gland	UBERON:0001234	94.85	gold quality
bone marrow	UBERON:0002371	94.81	gold quality
coronary artery	UBERON:0001621	94.73	gold quality
left adrenal gland cortex	UBERON:0035825	94.70	gold quality

Single-cell (SCXA)

Detected in 30 experiment(s), a significant marker in 30.

Experiment	Marker?	Max mean expression
E-MTAB-8495	yes	2934.99
E-GEOD-180759	yes	1577.78
E-GEOD-130148	yes	1538.45
E-MTAB-6308	yes	1396.21
E-HCAD-15	yes	1327.58
E-MTAB-6653	yes	1309.59
E-GEOD-84465	yes	1097.62
E-CURD-88	yes	1087.43
E-MTAB-9801	yes	886.96
E-HCAD-36	yes	836.06
E-MTAB-8381	yes	648.77
E-HCAD-4	yes	201.72
E-HCAD-1	yes	97.54
E-MTAB-6701	yes	93.82
E-CURD-122	yes	76.17

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

23 targeting MS4A6A, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-145-5P	99.92	71.13	1836
HSA-MIR-5195-3P	99.92	70.92	1877
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-105-5P	99.54	69.24	2060
HSA-MIR-7853-5P	99.54	69.30	2055
HSA-MIR-7159-5P	99.53	72.12	2472
HSA-MIR-365A-3P	99.43	70.02	836
HSA-MIR-365B-3P	99.43	70.02	836
HSA-MIR-942-5P	99.41	68.40	1977
HSA-MIR-4311	99.31	70.47	3041
HSA-MIR-5690	99.25	67.58	1012
HSA-MIR-4439	98.53	67.53	793
HSA-MIR-3136-5P	98.53	67.68	793
HSA-MIR-4290	98.51	65.17	907
HSA-MIR-653-3P	98.31	67.71	1542
HSA-MIR-6884-3P	98.05	65.32	750
HSA-MIR-3691-3P	97.90	65.97	791
HSA-MIR-4513	95.04	67.06	727
HSA-MIR-6855-3P	95.04	66.57	725
HSA-MIR-6825-3P	88.51	66.17	71

Literature-anchored findings (GeneRIF, showing 12)

• ABCA7 and the MS4A6A/MS4A4E gene cluster are new Alzheimer’s disease susceptibility loci. (PMID:21460840)
• data revealed the allele (T) of the rs3865444 polymorphism of the CD33 gene and the allele (C) of the rs610932 polymorphism of the MS4A6A gene may contribute to Alzheimer’s disease risk in the Chinese Han population (PMID:22382309)
• high levels of MS4A6A contribute to altered turnover or production of cells with an anti-inflammatory neuroprotective phenotype in favor of cells with a damaging pro-inflammatory phenotype believed to contribute to AD pathology. (PMID:24064185)
• Common variants in ABCA7 and MS4A6A are associated with cortical and hippocampal atrophy. (PMID:26923404)
• Its mutation plays a role in pathogenesis of Alzheimer’s disease. (PMID:27084067)
• identified the significant associations of the GBA L444P mutation and DYRK1A rs8126696 T allele with the earlier age at onset (AAO) in Parkinson’s disease (PD) patients, and the A allele at MS4A6A rs610932 with the delayed AAO of PD. (PMID:27085534)
• these findings reveal that MS4A6A genotypes affect Alzheimer’s disease specific brain structures (PMID:27244883)
• Study found enrichment of epistasis in gonadotropin-releasing hormone signaling with risk single-nucleotide polymorphisms in APOE and MS4A6A. Results suggest that in addition to APOE, MS4A6A polymorphisms should be considered in hormone trials targeting gonadotropins. (PMID:27337227)
• rs610932 MS4A6A is not associated with late-onset Alzheimer’s disease. (PMID:28477215)
• Meta analysis validated the Alzheimer disease protective association for MS4A6A (rs610932) variants. (PMID:29504051)
• Identification of redundancy between human FcepsilonRIbeta and MS4A6A proteins points toward additional complex mechanisms for FcepsilonRI trafficking and signaling. (PMID:36424895)
• Involvement of microglia-expressed MS4A6A in the onset of glioblastoma. (PMID:38488530)

Cross-species orthologs

31 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	Ms4a6b	ENSMUSG00000024677
mus_musculus	Ms4a6d	ENSMUSG00000024679
mus_musculus	Ms4a6c	ENSMUSG00000079419
rattus_norvegicus	Ms4a6a	ENSRNOG00000020991
rattus_norvegicus	Ms4a6bl1	ENSRNOG00000030689
rattus_norvegicus	Ms4a6b	ENSRNOG00000047349
rattus_norvegicus	Ms4a6bl1	ENSRNOG00000050395

Paralogs (16): MS4A12 (ENSG00000071203), 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), MS4A18 (ENSG00000214782), MS4A4E (ENSG00000214787)

Protein

Protein identifiers

Membrane-spanning 4-domains subfamily A member 6A — Q9H2W1 (reviewed: Q9H2W1)

Alternative names: CD20 antigen-like 3, Four-span transmembrane protein 3

All UniProt accessions (8): Q9H2W1, E9PJ78, E9PL03, E9PMN8, E9PNG6, E9PSA9, G5EA21, H0YEM2

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in signal transduction as a component of a multimeric receptor complex.

Subcellular location. Membrane.

Tissue specificity. Variable expression in some B-cell, myelomonocytic, and erythroleukemia cell lines.

Similarity. Belongs to the MS4A family.

Isoforms (5)

UniProt ID	Names	Canonical?
Q9H2W1-1	1, 3.1	yes
Q9H2W1-2	2, 3.2
Q9H2W1-3	3
Q9H2W1-4	4
Q9H2W1-5	5

RefSeq proteins (5): NP_001234928, NP_001317204, NP_071744, NP_690590, NP_690591 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007237	CD20-like_TM	Domain
IPR030417	MS4A	Family

Pfam: PF04103

UniProt features (22 total): splice variant 7, topological domain 5, transmembrane region 4, sequence conflict 3, sequence variant 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H2W1-F1	73.84	0.35

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 251 (showing top): MCLACHLAN_DENTAL_CARIES_UP, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOCC_TRANS_GOLGI_NETWORK, GNF2_CD1D, FOSTER_TOLERANT_MACROPHAGE_DN, MARTINEZ_RB1_TARGETS_DN, MODULE_206, RUTELLA_RESPONSE_TO_HGF_VS_CSF2RB_AND_IL4_DN, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_UP, GNF2_HCK, HESS_TARGETS_OF_HOXA9_AND_MEIS1_DN, BILBAN_B_CLL_LPL_DN, CHANG_IMMORTALIZED_BY_HPV31_UP, CHEN_ETV5_TARGETS_SERTOLI, MARTINEZ_RB1_AND_TP53_TARGETS_UP

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

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (3): trans-Golgi network (GO:0005802), plasma membrane (GO:0005886), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
signal transduction	1
binding	1
Golgi apparatus subcompartment	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1118 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MS4A6A	MS4A4E	Q96PG1	982
MS4A6A	MS4A10	Q96PG2	855
MS4A6A	ABCA7	Q8IZY2	811
MS4A6A	PICALM	Q13492	789
MS4A6A	CD2AP	Q9Y5K6	772
MS4A6A	BIN1	O00499	764
MS4A6A	ZCWPW1	Q9H0M4	719
MS4A6A	CLU	P10909	714
MS4A6A	EPHA1	P21709	713
MS4A6A	NME8	Q8N427	697
MS4A6A	CASS4	Q9NQ75	697
MS4A6A	CD33	P20138	691
MS4A6A	SORL1	Q92673	669
MS4A6A	TREM2	Q9NZC2	646
MS4A6A	SLC24A4	Q8NFF2	643

IntAct

10 interactions, top by confidence:

A	B	Type	Score
MS4A6A	GPRC5D	psi-mi:“MI:0915”(physical association)	0.560
	MS4A6A	psi-mi:“MI:0915”(physical association)	0.370
MS4A6A	RRP8	psi-mi:“MI:0915”(physical association)	0.000
MS4A6A	ATP1A3	psi-mi:“MI:0915”(physical association)	0.000
MS4A6A	SNRNP70	psi-mi:“MI:0915”(physical association)	0.000
MS4A6A	GPRC5D	psi-mi:“MI:0915”(physical association)	0.000
MS4A6A	glyS	psi-mi:“MI:0915”(physical association)	0.000
MS4A6A	hemF	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (1): GPRC5D (Two-hybrid)

ESM2 similar proteins: A6NGA9, A6NML5, A6QPF4, O95976, P0C6B7, P0C7T8, P0DP42, P11836, P13386, P19437, P20490, Q01362, Q2KJA5, Q32KQ5, Q3C2E2, Q3UNB8, Q3YBM2, Q4G068, Q5HZK2, Q5R8D6, Q5REZ0, Q5REZ6, Q60HE7, Q61168, Q7YQI4, Q80W35, Q8C3K5, Q8C6V3, Q8N5U1, Q920C4, Q925D4, Q96DS6, Q96HJ5, Q96HP8, Q96JQ5, Q96PG2, Q99N03, Q99N05, Q99N07, Q99N08

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, Q9GZW8, Q5REZ6, Q96PG2, Q96DS6, Q96PG1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	16
Likely benign	6
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1389 predictions. Top by Δscore:

Variant	Effect	Δscore
11:60175505:CA:C	donor_gain	1.0000
11:60178317:C:CC	acceptor_gain	1.0000
11:60181588:A:C	donor_gain	1.0000
11:60181738:CCAA:C	acceptor_gain	1.0000
11:60181739:CAA:C	acceptor_gain	1.0000
11:60181739:CAAC:C	acceptor_gain	1.0000
11:60181739:CAACT:C	acceptor_loss	1.0000
11:60181741:AC:A	acceptor_loss	1.0000
11:60181742:C:CA	acceptor_loss	1.0000
11:60181742:C:CC	acceptor_gain	1.0000
11:60181743:T:C	acceptor_loss	1.0000
11:60181744:A:C	acceptor_gain	1.0000
11:60173126:TTCC:T	acceptor_gain	0.9900
11:60173129:CCT:C	acceptor_loss	0.9900
11:60173130:C:G	acceptor_loss	0.9900
11:60173131:T:A	acceptor_loss	0.9900
11:60175400:A:AC	donor_gain	0.9900
11:60175400:ACAG:A	donor_gain	0.9900
11:60175401:C:CG	donor_gain	0.9900
11:60175401:CAG:C	donor_gain	0.9900
11:60175401:CAGC:C	donor_gain	0.9900
11:60176020:A:C	acceptor_gain	0.9900
11:60178313:TAAA:T	acceptor_gain	0.9900
11:60179829:A:AC	donor_gain	0.9900
11:60179830:C:CC	donor_gain	0.9900
11:60179962:TAGT:T	acceptor_gain	0.9900
11:60179966:C:CC	acceptor_gain	0.9900
11:60181578:TACC:T	donor_loss	0.9900
11:60181579:A:AG	donor_loss	0.9900
11:60181579:AC:A	donor_gain	0.9900

AlphaMissense

1448 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:60175579:A:C	S124R	0.959
11:60175579:A:T	S124R	0.959
11:60175581:T:G	S124R	0.959
11:60178314:A:C	F95L	0.880
11:60178314:A:T	F95L	0.880
11:60178316:A:G	F95L	0.880
11:60179930:G:C	S61R	0.875
11:60179930:G:T	S61R	0.875
11:60179932:T:G	S61R	0.875
11:60175588:G:C	S121R	0.866
11:60175588:G:T	S121R	0.866
11:60175590:T:G	S121R	0.866
11:60175560:C:G	G131R	0.852
11:60173091:T:A	E196D	0.848
11:60173091:T:G	E196D	0.848
11:60178303:C:T	G99D	0.846
11:60179846:G:C	F89L	0.844
11:60179846:G:T	F89L	0.844
11:60179848:A:G	F89L	0.844
11:60179946:C:T	G56D	0.831
11:60179926:C:G	G63R	0.829
11:60179926:C:T	G63R	0.829
11:60179842:C:G	G91R	0.816
11:60179842:C:T	G91R	0.816
11:60179888:A:C	F75L	0.808
11:60179888:A:T	F75L	0.808
11:60179890:A:G	F75L	0.808
11:60175600:G:C	S117R	0.801
11:60175600:G:T	S117R	0.801
11:60175602:T:G	S117R	0.801

dbSNP variants (sampled 300 via entrez): RS1000113673 (11:60184011 C>G), RS1000156217 (11:60171295 T>A), RS1000547958 (11:60183779 T>C), RS1000965604 (11:60175341 C>A,T), RS1001202392 (11:60176031 A>G), RS1001389969 (11:60183038 C>T), RS1001548250 (11:60183203 C>G,T), RS1001615296 (11:60176515 TAA>T), RS1001715081 (11:60183310 C>A,T), RS1002175068 (11:60174907 T>C), RS1002318099 (11:60180422 T>C), RS1002693305 (11:60182262 T>C), RS1002795299 (11:60180138 G>C), RS1003097879 (11:60185955 C>T), RS1003184434 (11:60173696 T>C)

Disease associations

OMIM: gene MIM:606548 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

28 associations (top):

Study	Trait	p-value
GCST001025_2	Alzheimer’s disease	2.000000e-14
GCST002147_15	Fibrinogen	4.000000e-09
GCST002245_10	Alzheimer’s disease (late onset)	6.000000e-16
GCST002817_25	Alzheimer’s disease in APOE e4- carriers	2.000000e-09
GCST003194_13	Fibrinogen levels	5.000000e-10
GCST004121_10	Fibrinogen levels	3.000000e-09
GCST004122_22	Fibrinogen levels	6.000000e-08
GCST004136_31	Methadone dose in opioid dependence	6.000000e-06
GCST005549_5	Alzheimer’s disease (late onset)	6.000000e-07
GCST006288_37	Heel bone mineral density	1.000000e-19
GCST006288_495	Heel bone mineral density	4.000000e-13
GCST006288_731	Heel bone mineral density	5.000000e-07
GCST006979_794	Heel bone mineral density	1.000000e-41
GCST007319_13	Alzheimer’s disease (late onset)	8.000000e-13
GCST007319_22	Alzheimer’s disease (late onset)	5.000000e-11
GCST007320_3	Alzheimer’s disease or family history of Alzheimer’s disease	2.000000e-15
GCST007320_54	Alzheimer’s disease or family history of Alzheimer’s disease	2.000000e-11
GCST007321_27	Family history of Alzheimer’s disease	5.000000e-09
GCST007321_8	Family history of Alzheimer’s disease	5.000000e-06
GCST007401_2	Factor VII activity	6.000000e-18
GCST007401_25	Factor VII activity	4.000000e-16
GCST007402_4	Factor VII activity or levels	2.000000e-16
GCST007615_33	C-reactive protein levels	6.000000e-10
GCST009246_129	Cerebrospinal fluid sTREM-2 levels	1.000000e-14
GCST010396_111	Gut microbiota (bacterial taxa, hurdle binary method)	6.000000e-07
GCST011954_4	White matter hyperintensity volume x hypertension interaction (2df)	3.000000e-08
GCST90002389_363	Lymphocyte percentage of white cells	2.000000e-17
GCST90002398_196	Neutrophil count	1.000000e-11

EFO canonical traits (11, from GWAS)

EFO ID	Trait name
EFO:0007907	methadone dose measurement
EFO:1001870	late-onset Alzheimers disease
EFO:0009270	heel bone mineral density
EFO:0009268	family history of Alzheimer’s disease
EFO:0004619	factor VII measurement
EFO:0004458	C-reactive protein measurement
EFO:0010151	soluble triggering receptor expressed on myeloid cells 2 measurement
EFO:0007874	gut microbiome measurement
EFO:0005665	white matter hyperintensity measurement
EFO:0007993	lymphocyte percentage of leukocytes
EFO:0004833	neutrophil count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

30 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Nickel	increases expression	2
2,4,5,2’,4’,5’-hexachlorobiphenyl	decreases expression	1
sulforaphane	decreases expression	1
sodium arsenite	affects methylation	1
3,4,5,3’,4’-pentachlorobiphenyl	decreases expression	1
nickel sulfate	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
nickel acetate	affects expression	1
gardiquimod	decreases expression, decreases reaction	1
(+)-JQ1 compound	decreases expression	1
Arsenic Trioxide	increases expression	1
Acetaminophen	increases expression	1
Air Pollutants	affects expression, increases abundance	1
Asbestos	affects expression	1
Benzo(a)pyrene	increases methylation, affects methylation	1
Cadmium	decreases expression, increases abundance	1
Iron	decreases expression	1
Lipopolysaccharides	affects cotreatment, decreases expression	1
Ozone	affects expression, increases abundance	1
Taurine	decreases expression	1
Tetrachlorodibenzodioxin	affects expression	1
Tretinoin	increases expression	1
Triclosan	increases expression	1
Valproic Acid	affects expression	1
Vitamin D	affects expression	1
Medroxyprogesterone Acetate	increases expression	1
Antirheumatic Agents	decreases expression	1
Cadmium Chloride	decreases expression, increases abundance	1
Protein Kinase Inhibitors	decreases expression, decreases reaction	1

Cellosaurus cell lines

2 cell lines: 1 induced pluripotent stem cell, 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_C0JF	KEIOi005-A	Induced pluripotent stem cell	Male
CVCL_VD94	BJAB GFP-MS4A6A	Cancer cell line	Female

Clinical trials (associated diseases)

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