VSIG4

Summary

VSIG4 (V-set and immunoglobulin domain containing 4, HGNC:17032) is a protein-coding gene on chromosome Xq12, encoding V-set and immunoglobulin domain-containing protein 4 (Q9Y279). Phagocytic receptor, strong negative regulator of T-cell proliferation and IL2 production.

This gene encodes a v-set and immunoglobulin-domain containing protein that is structurally related to the B7 family of immune regulatory proteins. The encoded protein may be a negative regulator of T-cell responses. This protein is also a receptor for the complement component 3 fragments C3b and iC3b. Alternate splicing results in multiple transcript variants.

Source: NCBI Gene 11326 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 91 total
• MANE Select transcript: NM_007268

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17032
Approved symbol	VSIG4
Name	V-set and immunoglobulin domain containing 4
Location	Xq12
Locus type	gene with protein product
Status	Approved
Aliases	Z39IG, CRIg
Ensembl gene	ENSG00000155659
Ensembl biotype	protein_coding
OMIM	300353
Entrez	11326

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 12 protein_coding, 1 nonsense_mediated_decay

ENST00000374737, ENST00000412866, ENST00000427538, ENST00000455586, ENST00000651578, ENST00000906472, ENST00000906473, ENST00000968798, ENST00000968799, ENST00000968800, ENST00000968801, ENST00000968802, ENST00000968803

RefSeq mRNA: 5 — MANE Select: NM_007268 NM_001100431, NM_001184830, NM_001184831, NM_001257403, NM_007268

CCDS: CCDS14383, CCDS48132, CCDS55435

Canonical transcript exons

ENST00000374737 — 8 exons

Exon	Start	End
ENSE00001022071	66025025	66025129
ENSE00001022073	66032468	66032749
ENSE00001022074	66033474	66033830
ENSE00001022076	66022841	66022862
ENSE00001022080	66028050	66028112
ENSE00001906883	66021738	66022500
ENSE00003556106	66027449	66027526
ENSE00003847064	66039944	66040080

Expression profiles

Bgee: expression breadth ubiquitous, 260 present calls, max score 97.74.

FANTOM5 (CAGE): breadth broad, TPM avg 17.0832 / max 4680.1330, expressed in 398 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
199500	14.3672	387
199498	1.0203	217
199499	0.7938	164
199497	0.5165	126
209718	0.2903	92
199496	0.0951	43

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right lung	UBERON:0002167	97.74	gold quality
lower lobe of lung	UBERON:0008949	97.47	gold quality
mucosa of stomach	UBERON:0001199	96.70	gold quality
right coronary artery	UBERON:0001625	96.34	gold quality
right adrenal gland cortex	UBERON:0035827	95.88	gold quality
right adrenal gland	UBERON:0001233	95.40	gold quality
layer of synovial tissue	UBERON:0007616	95.34	gold quality
upper lobe of lung	UBERON:0008948	94.86	gold quality
upper lobe of left lung	UBERON:0008952	94.75	gold quality
synovial joint	UBERON:0002217	94.72	gold quality
visceral pleura	UBERON:0002401	94.58	gold quality
placenta	UBERON:0001987	94.55	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	94.45	gold quality
pericardium	UBERON:0002407	94.41	gold quality
left adrenal gland	UBERON:0001234	94.35	gold quality
left coronary artery	UBERON:0001626	94.32	gold quality
decidua	UBERON:0002450	94.17	gold quality
descending thoracic aorta	UBERON:0002345	94.13	gold quality
left adrenal gland cortex	UBERON:0035825	93.83	gold quality
lung	UBERON:0002048	93.71	gold quality
omental fat pad	UBERON:0010414	93.56	gold quality
gall bladder	UBERON:0002110	93.54	gold quality
peritoneum	UBERON:0002358	93.46	gold quality
coronary artery	UBERON:0001621	93.19	gold quality
adipose tissue of abdominal region	UBERON:0007808	92.78	gold quality
subcutaneous adipose tissue	UBERON:0002190	92.52	gold quality
adrenal cortex	UBERON:0001235	92.39	gold quality
pleura	UBERON:0000977	92.37	gold quality
thoracic aorta	UBERON:0001515	92.24	gold quality
adrenal gland	UBERON:0002369	91.82	gold quality

Single-cell (SCXA)

Detected in 17 experiment(s), a significant marker in 17.

Experiment	Marker?	Max mean expression
E-CURD-126	yes	1570.24
E-MTAB-6701	yes	1226.36
E-HCAD-24	yes	1139.64
E-HCAD-15	yes	1052.85
E-HCAD-1	yes	89.27
E-CURD-122	yes	72.25
E-GEOD-135922	yes	52.71
E-MTAB-6678	yes	41.64
E-GEOD-84465	yes	40.87
E-CURD-46	yes	32.83
E-GEOD-134144	yes	32.69
E-MTAB-10553	yes	26.16
E-CURD-88	yes	20.85
E-GEOD-130148	yes	20.39
E-HCAD-9	yes	16.80

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

32 targeting VSIG4, 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-6758-5P	100.00	66.21	1470
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-4493	99.90	66.48	977
HSA-MIR-3663-3P	99.84	70.39	798
HSA-MIR-4530	99.69	66.47	1509
HSA-MIR-1303	99.65	69.77	1662
HSA-MIR-3128	99.50	67.85	1258
HSA-MIR-4685-5P	99.25	65.99	1563
HSA-MIR-6837-5P	99.25	65.47	1632
HSA-MIR-3922-3P	99.25	64.96	1136
HSA-MIR-3176	99.25	64.35	954
HSA-MIR-6510-5P	99.14	66.59	1081
HSA-MIR-6809-5P	99.13	68.45	1223
HSA-MIR-7702	99.06	65.95	698
HSA-MIR-3145-3P	98.85	69.07	2031
HSA-MIR-6811-3P	98.62	66.54	944
HSA-MIR-4733-3P	98.35	65.20	994
HSA-MIR-7113-5P	97.88	67.33	1735
HSA-MIR-4708-5P	97.77	67.82	831
HSA-MIR-665	97.60	65.64	1781
HSA-MIR-4456	97.50	64.88	1678
HSA-MIR-5702	96.68	68.21	958
HSA-MIR-3169	96.40	67.58	698
HSA-MIR-6806-5P	96.37	68.74	587
HSA-MIR-5586-5P	96.29	68.02	685
HSA-MIR-1291	96.28	65.89	1224
HSA-MIR-2276-5P	96.27	65.85	937
HSA-MIR-6735-3P	96.10	63.81	600
HSA-MIR-4774-5P	95.92	68.27	827

Literature-anchored findings (GeneRIF, showing 25)

• Results report the identification and characterization of a Complement Receptor of the Immunoglobulin superfamily, CRIg, that binds complement fragments C3b and iC3b. (PMID:16530040)
• These data indicate that the macrophage Z39Ig is involved in the pathogenesis of inflammatory diseases through chemokine induction, which will promote the migration of inflammatory cells into the lesion area, and MMP-9 induction. (PMID:16882875)
• The specific expression of VSIG4 on resting macrophages suggests that VSIG4 may be important for the maintenance of T cell unresponsiveness in healthy tissues. (PMID:17016562)
• CRIg is not only a phagocytic receptor, but also a potent inhibitor of the alternative pathway convertases (PMID:17051150)
• hVSIG4 recombinant adenovirus-transfected DCs suppress T cell proliferation, cytokine production and activation marker expression with (PMID:19914289)
• These results suggest that T cells can opposite T cell hyporesponsiveness through dampening Z39Ig inhibitory signals from macrophages and thus maintain their anti-viral function in chronic hepatitis B. (PMID:20399148)
• we showed that a complement receptor of the Ig superfamily (CRIg, also known as Z39Ig), a receptor for complement fragments (C3b and iC3b), was expressed on a subset of intestinal macrophages in murine and human large intestine (PMID:21768202)
• we identified VSIG4 as a potential diagnostic marker of severe preeclampsia. The determination of this gene may improve the prognostic assessment of severe preeclampsia. (PMID:24349325)
• Data indicate that massive V-set and Ig domain-containing 4 VSIG4(+) cell infiltration throughout the non-small-cell lung cancer samples. (PMID:24862966)
• complement receptor of the immunoglobulin superfamily-L-factor H protects glomerular mesangial cells from complement-mediated injury and proliferative lesions (PMID:25114177)
• Data indicate that rotein kinase calpha (PKCalpha) plays a role in downregulating complement receptor Ig (CRIg coded by V-set and Ig domain-containing protein 4 VSIG4) expression. (PMID:25687755)
• VSIG4 signaling provides an anti-immune evasion mechanism that prevents the outgrowth of intracellular bacteria in macrophages (PMID:27440002)
• we concluded that let-7g-5p inhibits epithelial-mesenchymal transition (EMT) consistent with reduction of glioma stem cell (GSC) phenotypes by targeting VSIG4 in glioblastoma. (PMID:27634309)
• VSIG4 expression is significantly upregulated in human masticatory mucosa during wound healing (PMID:28005267)
• Soluble VSIG4 levels are associated with the progression and recurrence of ovarian cancer, indicating that soluble VSIG4 may be used as a potential biomarker for predicting tumor prognosis. (PMID:28498255)
• The VSIG4 upregulation by LMP1 was regulated at the transcriptional level via the NF-kB signaling axis. (PMID:28859984)
• CRIg is a novel interacting partner of TRIM72 in the lung. (PMID:29268030)
• this study shows that CRIg/FH ameliorates renal ischemia reperfusion injury via activation of PI3K/AKT signaling (PMID:30429287)
• The results indicated that Vsig4 expression was markedly down-regulated in fatty livers of nonalcoholic fatty liver disease patients and obese mice. (PMID:31266632)
• Impact of VSIG4 gene polymorphisms on susceptibility and functional status of rheumatoid arthritis. (PMID:33645007)
• Rab18 interacted with V-set and immunoglobulin domain-containing 4 (VSIG4) to involve in the apoptosis of glioma and the sensitivity to temozolomide. (PMID:33904378)
• CRIg on liver macrophages clears pathobionts and protects against alcoholic liver disease. (PMID:34887405)
• V-Set Immunoglobulin Domain-Containing Protein 4 as a Novel Serum Biomarker of Lupus Nephritis and Renal Pathology Activity. (PMID:37163449)
• VSIG4 ameliorates intestinal inflammation through inhibiting macrophages NLRP3 inflammasome and pyroptosis. (PMID:38113649)
• The immunomodulatory role of paracrine signalling factor VSIG4 in peritoneal metastases. (PMID:39080370)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Vsig4	ENSMUSG00000044206
rattus_norvegicus	Vsig4	ENSRNOG00000038132

Protein

Protein identifiers

V-set and immunoglobulin domain-containing protein 4 — Q9Y279 (reviewed: Q9Y279)

Alternative names: Protein Z39Ig

All UniProt accessions (3): Q9Y279, A0A494C0F5, H7C062

UniProt curated annotations — full annotation on UniProt →

Function. Phagocytic receptor, strong negative regulator of T-cell proliferation and IL2 production. Potent inhibitor of the alternative complement pathway convertases.

Subcellular location. Membrane.

Tissue specificity. Abundantly expressed in several fetal tissues. In adult tissues, highest expression in lung and placenta. Expressed in resting macrophages.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9Y279-1	1	yes
Q9Y279-2	2
Q9Y279-3	3

RefSeq proteins (5): NP_001093901, NP_001171759, NP_001171760, NP_001244332, NP_009199* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003598	Ig_sub2	Domain
IPR003599	Ig_sub	Domain
IPR007110	Ig-like_dom	Domain
IPR013106	Ig_V-set	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR036179	Ig-like_dom_sf	Homologous_superfamily
IPR039939	VSIG4	Family
IPR039944	VSIG4_IgV	Domain

Pfam: PF07686, PF13927

UniProt features (29 total): strand 11, sequence variant 4, splice variant 2, topological domain 2, helix 2, domain 2, disulfide bond 2, signal peptide 1, chain 1, turn 1, transmembrane region 1

Structure

Experimental structures (PDB)

12 structures.

PDB	Method	Resolution (Å)
9EZU	X-RAY DIFFRACTION	1.05
2ICC	X-RAY DIFFRACTION	1.2
5IMK	X-RAY DIFFRACTION	1.23
8TE6	X-RAY DIFFRACTION	1.25
9EZV	X-RAY DIFFRACTION	1.45
8TE5	X-RAY DIFFRACTION	1.5
5IML	X-RAY DIFFRACTION	1.8
9EZW	X-RAY DIFFRACTION	1.9
9EZH	X-RAY DIFFRACTION	1.94
9EZI	X-RAY DIFFRACTION	1.97
2ICE	X-RAY DIFFRACTION	3.1
2ICF	X-RAY DIFFRACTION	4.1

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y279-F1	74.55	0.52

Antibody-complex structures (SAbDab): 7 — 5IMK, 5IML, 9EZH, 9EZI, 9EZU, 9EZV, 9EZW

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Disulfide bonds (2): 41–113, 165–211

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 210 (showing top): GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_UP, GOBP_REGULATION_OF_CELL_ACTIVATION, MODULE_52, GOBP_REGULATION_OF_LEUKOCYTE_PROLIFERATION, WALLACE_PROSTATE_CANCER_RACE_UP, GOBP_NEGATIVE_REGULATION_OF_LEUKOCYTE_PROLIFERATION, MODULE_45, GOBP_NEGATIVE_REGULATION_OF_INNATE_IMMUNE_RESPONSE, GOBP_REGULATION_OF_MACROPHAGE_ACTIVATION, GOBP_NEGATIVE_REGULATION_OF_CELL_CELL_ADHESION, MODULE_16, WIELAND_UP_BY_HBV_INFECTION, GOBP_NEGATIVE_REGULATION_OF_RESPONSE_TO_BIOTIC_STIMULUS, GOBP_CELL_CELL_ADHESION, MODULE_118

GO Biological Process (7): complement activation, alternative pathway (GO:0006957), negative regulation of interleukin-2 production (GO:0032703), negative regulation of T cell proliferation (GO:0042130), negative regulation of macrophage activation (GO:0043031), negative regulation of complement activation, alternative pathway (GO:0045957), immune system process (GO:0002376), innate immune response (GO:0045087)

GO Molecular Function (2): complement component C3b binding (GO:0001851), protein binding (GO:0005515)

GO Cellular Component (2): membrane (GO:0016020), protein-containing complex (GO:0032991)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
complement activation	1
innate immune response	1
negative regulation of cytokine production	1
interleukin-2 production	1
regulation of interleukin-2 production	1
T cell proliferation	1
regulation of T cell proliferation	1
negative regulation of lymphocyte proliferation	1
negative regulation of T cell activation	1
negative regulation of leukocyte activation	1
macrophage activation	1
regulation of macrophage activation	1
complement activation, alternative pathway	1
regulation of complement activation, alternative pathway	1
negative regulation of innate immune response	1
negative regulation of complement activation	1
biological_process	1
immune response	1
defense response to symbiont	1
opsonin binding	1
complement binding	1
binding	1
cellular anatomical structure	1
cellular_component	1

Protein interactions and networks

STRING

1350 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
VSIG4	C3	P01024	998
VSIG4	MS4A4A	Q96JQ5	823
VSIG4	CD163	Q86VB7	725
VSIG4	CSF1R	P07333	711
VSIG4	C3AR1	Q16581	679
VSIG4	CLEC4F	Q8N1N0	669
VSIG4	C4A	P01028	650
VSIG4	C4A	P01028	649
VSIG4	C1QA	P02745	613
VSIG4	CFH	P08603	546
VSIG4	IRF5	Q13568	544
VSIG4	TIMD4	Q96H15	540
VSIG4	FCER1G	P30273	528
VSIG4	CCR8	P51685	525
VSIG4	CLIC3	O95833	518

IntAct

16 interactions, top by confidence:

A	B	Type	Score
FATE1	VSIG4	psi-mi:“MI:0915”(physical association)	0.560
VAMP5	VSIG4	psi-mi:“MI:0915”(physical association)	0.560
JAGN1	VSIG4	psi-mi:“MI:0915”(physical association)	0.560
VSIG4	TCAF2	psi-mi:“MI:0914”(association)	0.530
DCC	VSIG4	psi-mi:“MI:0915”(physical association)	0.400
VSIG4	PDK2	psi-mi:“MI:0915”(physical association)	0.370
ZNF558	SERPINA1	psi-mi:“MI:0914”(association)	0.350
VSIG4	TNFRSF10B	psi-mi:“MI:0914”(association)	0.350
VSIG4	TMEM223	psi-mi:“MI:0914”(association)	0.350
VSIG4	FATE1	psi-mi:“MI:0915”(physical association)	0.000
VAMP5	VSIG4	psi-mi:“MI:0915”(physical association)	0.000
JAGN1	VSIG4	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (245): SLC25A6 (Affinity Capture-MS), MYO1D (Affinity Capture-MS), POP4 (Affinity Capture-MS), ATP2B2 (Affinity Capture-MS), ZNF146 (Affinity Capture-MS), KIDINS220 (Affinity Capture-MS), LPHN1 (Affinity Capture-MS), FAR2 (Affinity Capture-MS), SGPL1 (Affinity Capture-MS), FAM115C (Affinity Capture-MS), WDR44 (Affinity Capture-MS), SLC30A9 (Affinity Capture-MS), ATP2C1 (Affinity Capture-MS), KDELR3 (Affinity Capture-MS), GK (Affinity Capture-MS)

ESM2 similar proteins: A4KWA5, A4KWA6, A4KWA8, B2KG20, D4AD02, O54709, O70215, P26717, P26718, P27471, P27811, P27814, P37217, P61252, Q07108, Q07444, Q0H8B9, Q149M0, Q504P2, Q5DT36, Q5DT37, Q5DT39, Q5M9I1, Q5RFR2, Q60652, Q60654, Q68D85, Q6QLQ4, Q6UXN8, Q80XD9, Q80ZC8, Q8C1T8, Q8MI05, Q8MJH1, Q8VBX4, Q8VI21, Q8WXI8, Q91V08, Q925N7, Q95MI4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	36
Likely benign	10
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

1169 predictions. Top by Δscore:

Variant	Effect	Δscore
X:66022861:CT:C	acceptor_gain	1.0000
X:66025020:CTAA:C	donor_loss	1.0000
X:66025022:AACC:A	donor_loss	1.0000
X:66025023:ACCTT:A	donor_loss	1.0000
X:66025024:C:CA	donor_loss	1.0000
X:66025125:CTTTC:C	acceptor_gain	1.0000
X:66025128:TC:T	acceptor_gain	1.0000
X:66025128:TCCTA:T	acceptor_loss	1.0000
X:66025129:CC:C	acceptor_gain	1.0000
X:66025130:C:CC	acceptor_gain	1.0000
X:66025130:CT:C	acceptor_loss	1.0000
X:66025131:T:C	acceptor_loss	1.0000
X:66027522:TGTTG:T	acceptor_gain	1.0000
X:66027525:TG:T	acceptor_gain	1.0000
X:66027527:C:CC	acceptor_gain	1.0000
X:66033472:A:AC	donor_gain	1.0000
X:66033473:C:CC	donor_gain	1.0000
X:66033473:CGTTT:C	donor_gain	1.0000
X:66033503:T:C	donor_gain	1.0000
X:66022837:TTA:T	donor_loss	0.9900
X:66022838:TA:T	donor_loss	0.9900
X:66022840:C:CA	donor_loss	0.9900
X:66022863:C:CC	acceptor_gain	0.9900
X:66025126:TTTC:T	acceptor_gain	0.9900
X:66026466:C:CA	donor_gain	0.9900
X:66027443:TCCTA:T	donor_loss	0.9900
X:66027444:CCTAC:C	donor_loss	0.9900
X:66027445:CTACC:C	donor_loss	0.9900
X:66027446:TACC:T	donor_loss	0.9900
X:66027447:A:C	donor_loss	0.9900

AlphaMissense

2604 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:66032631:C:A	W177C	0.984
X:66032631:C:G	W177C	0.984
X:66032633:A:G	W177R	0.984
X:66032633:A:T	W177R	0.984
X:66033720:A:G	W56R	0.982
X:66033720:A:T	W56R	0.982
X:66032530:C:G	C211S	0.981
X:66032531:A:T	C211S	0.981
X:66032668:C:G	C165S	0.974
X:66032669:A:T	C165S	0.974
X:66032669:A:G	C165R	0.972
X:66032537:A:C	Y209D	0.971
X:66033718:C:A	W56C	0.971
X:66033718:C:G	W56C	0.971
X:66033535:C:A	W117C	0.969
X:66033535:C:G	W117C	0.969
X:66033537:A:G	W117R	0.969
X:66033537:A:T	W117R	0.969
X:66032530:C:T	C211Y	0.967
X:66032531:A:G	C211R	0.966
X:66032674:A:G	L163P	0.965
X:66032529:G:C	C211W	0.964
X:66032667:G:C	C165W	0.963
X:66032493:G:C	S223R	0.960
X:66032493:G:T	S223R	0.960
X:66032495:T:G	S223R	0.960
X:66032479:A:G	F228S	0.959
X:66033548:C:G	C113S	0.959
X:66033549:A:T	C113S	0.959
X:66032524:G:T	A213D	0.957

dbSNP variants (sampled 300 via entrez): RS1000121815 (X:66023546 C>A,T), RS1000192838 (X:66025146 G>A,T), RS1000304210 (X:66032377 C>T), RS1000362041 (X:66041508 C>T), RS1000455936 (X:66031953 C>T), RS1000505043 (X:66021734 G>T), RS1000789728 (X:66035049 C>T), RS1000872832 (X:66041591 G>A), RS1000899365 (X:66034235 A>G,T), RS1001269476 (X:66033928 G>A), RS1001294527 (X:66022769 C>T), RS1001520133 (X:66028815 G>A), RS1001620409 (X:66035985 A>C), RS1001679882 (X:66035732 C>G,T), RS1001900065 (X:66029042 A>C)

Disease associations

OMIM: gene MIM:300353 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST006661_181	Male-pattern baldness	3.000000e-11
GCST006661_234	Male-pattern baldness	4.000000e-58
GCST006661_271	Male-pattern baldness	1.000000e-44
GCST006661_316	Male-pattern baldness	5.000000e-20
GCST90002396_102	Mean reticulocyte volume	7.000000e-20
GCST90002397_158	Mean spheric corpuscular volume	9.000000e-20

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0010701	mean reticulocyte volume

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

18 total (human), top 18 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression, increases methylation	2
triphenyl phosphate	affects expression	1
sodium bichromate	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	decreases expression, affects response to substance, increases expression, affects cotreatment	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
Arsenic Trioxide	decreases expression	1
Allergens	decreases expression	1
Cadmium	decreases expression, increases abundance	1
Calcitriol	decreases expression	1
Lipopolysaccharides	affects response to substance, increases expression, affects cotreatment, decreases expression	1
Smoke	decreases expression	1
Tretinoin	increases expression	1
Aflatoxin B1	decreases methylation	1
Medroxyprogesterone Acetate	increases expression	1
Antirheumatic Agents	decreases expression	1
Cadmium Chloride	increases abundance, decreases expression	1

Clinical trials (associated diseases)

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