VTCN1

Summary

VTCN1 (V-set domain containing T cell activation inhibitor 1, HGNC:28873) is a protein-coding gene on chromosome 1p13.1-p12, encoding V-set domain-containing T-cell activation inhibitor 1 (Q7Z7D3). Negatively regulates T-cell-mediated immune response by inhibiting T-cell activation, proliferation, cytokine production and development of cytotoxicity.

This gene encodes a protein belonging to the B7 costimulatory protein family. Proteins in this family are present on the surface of antigen-presenting cells and interact with ligand bound to receptors on the surface of T cells. Studies have shown that high levels of the encoded protein has been correlated with tumor progression. A pseudogene of this gene is located on chromosome 20. Multiple transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 79679 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 5 total
• MANE Select transcript: NM_024626

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28873
Approved symbol	VTCN1
Name	V-set domain containing T cell activation inhibitor 1
Location	1p13.1-p12
Locus type	gene with protein product
Status	Approved
Aliases	B7-H4, FLJ22418, B7S1, B7x, B7H4
Ensembl gene	ENSG00000134258
Ensembl biotype	protein_coding
OMIM	608162
Entrez	79679

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 8 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000328189, ENST00000359008, ENST00000369458, ENST00000463461, ENST00000488493, ENST00000539893, ENST00000856907, ENST00000856908, ENST00000856909, ENST00000856910

RefSeq mRNA: 3 — MANE Select: NM_024626 NM_001253849, NM_001253850, NM_024626

CCDS: CCDS58019, CCDS58020, CCDS894

Canonical transcript exons

ENST00000369458 — 6 exons

Exon	Start	End
ENSE00000913403	117153091	117153369
ENSE00001022555	117147613	117147782
ENSE00001416163	117143587	117145225
ENSE00003465068	117170107	117170171
ENSE00003548774	117156574	117156921
ENSE00003610041	117210824	117210927

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 97.82.

FANTOM5 (CAGE): breadth broad, TPM avg 1.3690 / max 297.8690, expressed in 243 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
14026	1.3333	240
14025	0.0357	14

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
palpebral conjunctiva	UBERON:0001812	97.82	gold quality
epithelium of mammary gland	UBERON:0003244	92.51	gold quality
mammary duct	UBERON:0001765	92.22	gold quality
hair follicle	UBERON:0002073	90.46	gold quality
right uterine tube	UBERON:0001302	89.24	gold quality
islet of Langerhans	UBERON:0000006	87.25	gold quality
nasal cavity epithelium	UBERON:0005384	86.38	gold quality
body of pancreas	UBERON:0001150	86.00	gold quality
pancreas	UBERON:0001264	85.42	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	85.14	gold quality
secondary oocyte	CL:0000655	84.95	gold quality
mammary gland	UBERON:0001911	84.85	gold quality
thoracic mammary gland	UBERON:0005200	84.73	gold quality
mucosa of paranasal sinus	UBERON:0005030	82.48	gold quality
cauda epididymis	UBERON:0004360	82.35	gold quality
amniotic fluid	UBERON:0000173	81.31	gold quality
minor salivary gland	UBERON:0001830	80.83	gold quality
nasal cavity mucosa	UBERON:0001826	80.80	gold quality
trachea	UBERON:0003126	80.56	gold quality
epithelium of bronchus	UBERON:0002031	79.77	gold quality
bronchus	UBERON:0002185	79.53	gold quality
metanephros cortex	UBERON:0010533	78.75	gold quality
bronchial epithelial cell	CL:0002328	77.54	gold quality
saliva-secreting gland	UBERON:0001044	76.85	gold quality
oocyte	CL:0000023	76.39	gold quality
mouth mucosa	UBERON:0003729	76.02	gold quality
epithelium of nasopharynx	UBERON:0001951	75.29	gold quality
endometrium	UBERON:0001295	75.01	gold quality
adult mammalian kidney	UBERON:0000082	74.45	gold quality
gall bladder	UBERON:0002110	74.11	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-MTAB-6701	yes	488.42
E-MTAB-5061	yes	26.90
E-ANND-3	yes	8.15

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CSF2, HIF1A, IL10, IL4, IL6

miRNA regulators (miRDB)

91 targeting VTCN1, 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-4425	100.00	67.59	1049
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-518D-5P	100.00	67.51	979
HSA-MIR-518E-5P	100.00	67.66	954
HSA-MIR-518F-5P	100.00	67.51	979
HSA-MIR-519A-5P	100.00	67.66	954
HSA-MIR-519B-5P	100.00	67.66	954
HSA-MIR-519C-5P	100.00	67.66	954
HSA-MIR-520C-5P	100.00	67.51	979
HSA-MIR-522-5P	100.00	67.66	954
HSA-MIR-523-5P	100.00	67.66	954
HSA-MIR-526A-5P	100.00	67.51	979
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-6755-5P	99.95	65.59	464
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-3140-3P	99.88	68.47	2069
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-6079	99.84	68.54	1170

Literature-anchored findings (GeneRIF, showing 40)

• May participate in negative regulation of cell-mediated immunity in peripheral tissues (PMID:12818165)
• Negative regulator of T cell activation. (B7S1) (PMID:12818166)
• Tight regulation of B7-H4 expression at the translational level is observed in normal peripheral tissues and a potential role indicated in the evasion of tumor immunity. (PMID:14568939)
• B7-H4 mRNA and protein are overexpressed in human serous ovarian cancers and breast cancers. (PMID:15878339)
• B7-H4+ tumor macrophages constitute a novel suppressor cell population in ovarian cancer; B7-H4 expression represents a critical checkpoint in determining host responses to dysfunctional cytokines in ovarian cancer. (PMID:16606666)
• B7-H4 in human antigen-presenting cells negatively regulates T cell responses. (PMID:16785496)
• patients with renal cell carcinoma (RCC) tumors expressing both B7-H4 and B7-H1 are at an even greater risk of death from RCC (PMID:16798883)
• T-cell and epithelial cell crosstalk-associated B7-H4 induces T-cell activation and is a potential activator that promotes tubular lesion (PMID:17051145)
• B7-H4 expression was low in normal ovaries and in benign tumors while half of early stage and two-thirds of late stage cancers over-expressed B7-H4. (PMID:17498784)
• B7-H4 is overexpressed in hyperplastic and malignant endometrial epithelium and is correlated with the T cell number associated with the tumor. B7-H4 overexpression may reflect a aggressive biologic potential and play a role in tumor immune surveillance. (PMID:17509674)
• B7-H4 was expressed more often in pancreatic ductal carcinoma than was p53. (PMID:18376314)
• renal cell carcinoma patients are more likely to have detectable sB7x compared with controls and higher sB7x levels correlate with advanced tumor stage (PMID:18676826)
• Novel role of B7-H4 molecule in the suppressive effect of hBMSCs on T-cell activation and proliferation. (PMID:19788399)
• B7-H4 gene polymorphism may contribute to the sporadic breast cancer risk and prognosis in Chinese Han women. (PMID:19903360)
• Human bone marrow mesenchymal stem cells highly express B7H4, which plays an important role in the suppressive effects of HBMSC on T cell proliferation. (PMID:19954668)
• B7-H4 directly promotes malignant transformation of ovarian cancer cell line. (PMID:19955922)
• The expression of OPN and B7-H4 increased in epithelial ovarian cancer. (PMID:20038306)
• Expression of B7-H4 had no effect on effectiveness of cytokine-induced killer cells adoptive immunotherapy in patients with gastric cancer. (PMID:20499308)
• High B7-H4 is associated with gastric cancer. (PMID:20725832)
• B7-H4 was diffusely expressed in cytoplasm and/or membrane of the prostate cancer tissue; the expression was much higher than that in normal prostate tissue. (PMID:20731031)
• High B7-H4 mRNA copies were associated with gastric cancer progression. (PMID:20872810)
• intracellular B7-H4 appears to prevent Fas/FasL-mediated bile duct epithelial cell apoptosis during the progression of primary biliary cirrhosis (PMID:21120594)
• expression levels of B7-H4 in tumors indicated that B7-H4 may be involved in tumor formation and development. (PMID:21190056)
• Evidence of B7-H4 expression on melanoma cells as a mechanism controlling tumor immunity which is associated with patients’ survival. (PMID:21378130)
• The expression of B7-H4 molecules on immature myeloid and lymphoid dendritic cells in cord blood of healthy neonates (PMID:21478111)
• High B7-H4 is associated with esophageal squamous cell carcinoma progression. (PMID:21519829)
• B7-H4 expression significantly correlated with tumor stage; the 5-year survival rate was significantly lower in patients with high B7-H4 expression than in those with low B7-H4 expression (PMID:21748517)
• paper summarizes the pertinent data on the inhibitory role of B7-H4 in antitumor immunity and its association with cancer progression and survival [review] (PMID:22013483)
• These results indicate a novel genetic association with the VTCN1 region in rheumatoid arthritis susceptibility. (PMID:22323440)
• The intensity of the suppressive profile of the cervical cancer microenvironment indicated by the presence of both RCAS1 and B7H4 on the front of the tumor and in the macrophages and fibroblasts infiltrating the cancer stroma (PMID:22530960)
• study concludes B7-H4 negatively regulates T cell-mediated antitumour immunity in nonsmall-cell lung cancer (PMID:22613410)
• A review of B7-H3 and B7-H4 immune molecules and the role their overexpression plays in ovarian cancer. (PMID:22910694)
• The expression of B7-H4 molecule on immature BDCA-1(+) myeloid dendritic cells were significantly lower in umbilical cord blood of healthy neonates when compared with those cells in peripheral blood of healthy adults (PMID:23066977)
• B7-H4 expression in malignant tumors is useful for clinical diagnosis, and may provide a novel molecular target for cancer treatment.[review] (PMID:23147549)
• B7-H4 wild-type confers chemoresistance activity to RCC cell lines including Caki-1 and ACHN. Our study provides a new insight into the functional implication of B7-H4 in its subcellular localization (PMID:23318460)
• B7x may enable metastasizing cancer cells to escape local antitumor immune responses through interactions with the innate and adaptive immune systems. (PMID:23455497)
• Loss of B7-H4 function prevents tumor growth through many processes, including the induction of apoptosis and inhibition of the Erk1/2 signaling pathway indicating that B7-H4 is a cancer promoter and a potentially important therapeutic target. (PMID:23660627)
• our findings showed that cell surface expression of B7-H4 occurs only in tumors in vivo and that antibody binding of B7-H4 could restore antitumor T-cell responses. (PMID:23722540)
• High B7-H4 expression is associated with thyroid cancer progression (PMID:23803071)
• High B7-H1 and B7-H4 expressions were closely correlated with poor prognosis in patients with colorectal cancer. (PMID:23873101)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	vtcn1	ENSDARG00000078643
mus_musculus	Vtcn1	ENSMUSG00000051076
rattus_norvegicus	Vtcn1	ENSRNOG00000015279

Paralogs (15): BTN3A1 (ENSG00000026950), CD276 (ENSG00000103855), BTN3A3 (ENSG00000111801), BTN2A1 (ENSG00000112763), BTNL8 (ENSG00000113303), HHLA2 (ENSG00000114455), BTN2A2 (ENSG00000124508), BTN1A1 (ENSG00000124557), ICOSLG (ENSG00000160223), ERMAP (ENSG00000164010), BTNL9 (ENSG00000165810), BTNL3 (ENSG00000168903), BTN3A2 (ENSG00000186470), BTNL2 (ENSG00000204290), MOG (ENSG00000204655)

Protein

Protein identifiers

V-set domain-containing T-cell activation inhibitor 1 — Q7Z7D3 (reviewed: Q7Z7D3)

Alternative names: B7 homolog 4, B7h.5, Immune costimulatory protein B7-H4, Protein B7S1, T-cell costimulatory molecule B7x

All UniProt accessions (2): Q7Z7D3, Q5T2L0

UniProt curated annotations — full annotation on UniProt →

Function. Negatively regulates T-cell-mediated immune response by inhibiting T-cell activation, proliferation, cytokine production and development of cytotoxicity. When expressed on the cell surface of tumor macrophages, plays an important role, together with regulatory T-cells (Treg), in the suppression of tumor-associated antigen-specific T-cell immunity. Involved in promoting epithelial cell transformation.

Subcellular location. Cell membrane.

Tissue specificity. Overexpressed in breast, ovarian, endometrial, renal cell (RCC) and non-small-cell lung cancers (NSCLC). Expressed on activated T- and B-cells, monocytes and dendritic cells, but not expressed in most normal tissues (at protein level). Widely expressed, including in kidney, liver, lung, ovary, placenta, spleen and testis.

Post-translational modifications. N-glycosylated.

Induction. Up-regulated by IL6/interleukin-6 and IL10/interleukin-10 and inhibited by CSF2/GM-CSF and IL4/interleukin-4 on antigen-presenting cells (APCs).

Miscellaneous. May serve as a predictive marker for renal cell carcinoma.

Similarity. Belongs to the immunoglobulin superfamily. BTN/MOG family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q7Z7D3-1	1	yes
Q7Z7D3-2	2
Q7Z7D3-3	3
Q7Z7D3-4	4

RefSeq proteins (3): NP_001240778, NP_001240779, NP_078902* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
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
IPR050504	IgSF_BTN/MOG-like	Family
IPR053896	BTN3A2-like_Ig-C	Domain

Pfam: PF07686, PF22705

UniProt features (30 total): strand 9, splice variant 4, helix 4, sequence conflict 2, topological domain 2, domain 2, disulfide bond 2, signal peptide 1, chain 1, turn 1, transmembrane region 1, glycosylation site 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
4GOS	X-RAY DIFFRACTION	1.59

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7Z7D3-F1	88.65	0.77

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): 56–130, 168–225

Glycosylation sites (1): 216

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 151 (showing top): GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_REGULATION_OF_LEUKOCYTE_PROLIFERATION, GOBP_NEGATIVE_REGULATION_OF_LEUKOCYTE_PROLIFERATION, GOBP_ANTIGEN_RECEPTOR_MEDIATED_SIGNALING_PATHWAY, GOCC_CELL_SURFACE, GOBP_NEGATIVE_REGULATION_OF_CELL_CELL_ADHESION, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION, GOBP_POSITIVE_REGULATION_OF_CELL_ADHESION, GOBP_POSITIVE_REGULATION_OF_LEUKOCYTE_PROLIFERATION, GOBP_CELL_CELL_ADHESION, MODULE_331, TURASHVILI_BREAST_CARCINOMA_DUCTAL_VS_LOBULAR_DN, GOBP_REGULATION_OF_IMMUNE_RESPONSE, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, GOBP_LEUKOCYTE_PROLIFERATION

GO Biological Process (11): response to protozoan (GO:0001562), regulation of cytokine production (GO:0001817), adaptive immune response (GO:0002250), positive regulation of interleukin-2 production (GO:0032743), positive regulation of T cell proliferation (GO:0042102), negative regulation of T cell proliferation (GO:0042130), negative regulation of apoptotic process (GO:0043066), T cell receptor signaling pathway (GO:0050852), negative regulation of T cell activation (GO:0050868), immune system process (GO:0002376), regulation of T cell proliferation (GO:0042129)

GO Molecular Function (2): signaling receptor binding (GO:0005102), protein binding (GO:0005515)

GO Cellular Component (3): external side of plasma membrane (GO:0009897), plasma membrane (GO:0005886), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
T cell proliferation	3
regulation of T cell proliferation	2
regulation of T cell activation	2
response to other organism	1
cytokine production	1
regulation of gene expression	1
regulation of multicellular organismal process	1
immune response	1
positive regulation of cytokine production	1
interleukin-2 production	1
regulation of interleukin-2 production	1
positive regulation of lymphocyte proliferation	1
positive regulation of T cell activation	1
negative regulation of lymphocyte proliferation	1
negative regulation of T cell activation	1
apoptotic process	1
regulation of apoptotic process	1
negative regulation of programmed cell death	1
antigen receptor-mediated signaling pathway	1
T cell activation	1
negative regulation of lymphocyte activation	1
negative regulation of leukocyte cell-cell adhesion	1
biological_process	1
regulation of lymphocyte proliferation	1
protein binding	1
binding	1
plasma membrane	1
cell surface	1
side of membrane	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

948 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
VTCN1	BTLA	Q7Z6A9	988
VTCN1	CTLA4	P16410	953
VTCN1	PDCD1LG2	Q9BQ51	935
VTCN1	PDCD1	Q15116	851
VTCN1	A0A087X1L8	A0A087X1L8	839
VTCN1	ICOS	Q9Y6W8	831
VTCN1	ICOSLG	O75144	825
VTCN1	CD28	P10747	773
VTCN1	TMIGD2	Q96BF3	755
VTCN1	TNFRSF14	Q92956	747
VTCN1	CD86	P42081	743
VTCN1	CD80	P33681	663
VTCN1	IL10	P22301	652
VTCN1	VSIR	Q9H7M9	645
VTCN1	HAVCR2	Q8TDQ0	644

IntAct

4 interactions, top by confidence:

A	B	Type	Score
VTCN1	NCALD	psi-mi:“MI:0915”(physical association)	0.590
VTCN1	H1-1	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (27): NCALD (Affinity Capture-MS), VTCN1 (Proximity Label-MS), UGGT1 (Affinity Capture-MS), STT3A (Affinity Capture-MS), VCP (Affinity Capture-MS), HSP90AA1 (Affinity Capture-MS), AMFR (Affinity Capture-MS), RPN1 (Affinity Capture-MS), RPN2 (Affinity Capture-MS), EIF2A (Affinity Capture-MS), ALG1 (Affinity Capture-MS), ATP2A2 (Affinity Capture-MS), SEC61A1 (Affinity Capture-MS), CANX (Affinity Capture-MS), NGLY1 (Affinity Capture-MS)

ESM2 similar proteins: A0A0R4IGV4, A0A8M2B818, A3KPA0, A5D7C3, B0JYH6, O02757, O60487, O70255, O88792, O95727, P14719, P22646, P27597, P31043, P42072, P43303, P57087, Q01638, Q08DK1, Q149L7, Q1WIM2, Q28071, Q32PI9, Q3TEW6, Q3V3F6, Q501W4, Q58EG3, Q5EAB0, Q5R804, Q5VJ70, Q66KX2, Q68FQ2, Q6AYT8, Q6DJ83, Q6UWV2, Q7TSP5, Q7Z7D3, Q8AVM3, Q8BLQ9, Q8N3J6

Diamond homologs: A0A0E4BZH1, A4QPC6, A7TZE6, A7TZF0, A7TZF3, A7XUX6, A7XUY5, A7XUZ6, A7XV04, A7XV07, A8MVZ5, O00478, O00481, O70355, P18892, P55803, P78410, Q13410, Q16653, Q29ZQ1, Q5R7W8, Q5R960, Q5R996, Q61885, Q62556, Q63345, Q6MG97, Q6UX41, Q6UXE8, Q6UXG8, Q7KYR7, Q7TST0, Q7Z7D3, Q8BJE2, Q8WVV5, Q96KV6, Q9BGS7, Q9JK39, Q9JLN5, Q9UIR0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

5 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

0 predictions. Top by Δscore:

AlphaMissense

1846 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:117153272:C:A	W181C	0.993
1:117153272:C:G	W181C	0.993
1:117153274:A:G	W181R	0.993
1:117153274:A:T	W181R	0.993
1:117153298:A:G	W173R	0.993
1:117153298:A:T	W173R	0.993
1:117156808:A:G	W71R	0.993
1:117156808:A:T	W71R	0.993
1:117156806:C:A	W71C	0.992
1:117156806:C:G	W71C	0.992
1:117153115:C:G	A234P	0.990
1:117156720:C:G	R100P	0.990
1:117153365:G:C	F150L	0.989
1:117153365:G:T	F150L	0.989
1:117153367:A:G	F150L	0.989
1:117153285:G:T	P177H	0.988
1:117153313:A:G	C168R	0.988
1:117156687:C:A	G111V	0.988
1:117153296:C:A	W173C	0.987
1:117153296:C:G	W173C	0.987
1:117156637:A:C	Y128D	0.987
1:117156630:C:G	C130S	0.986
1:117156631:A:T	C130S	0.986
1:117156851:G:C	C56W	0.986
1:117156631:A:G	C130R	0.985
1:117156675:A:G	L115S	0.985
1:117156681:G:T	A113D	0.985
1:117156852:C:T	C56Y	0.985
1:117156845:A:C	F58L	0.984
1:117156845:A:T	F58L	0.984

dbSNP variants (sampled 300 via entrez): RS1000015727 (1:117164772 G>T), RS1000067808 (1:117200484 T>C), RS1000078529 (1:117200072 AG>A), RS1000080068 (1:117209641 G>A,T), RS1000123599 (1:117156386 C>A), RS1000125216 (1:117157682 C>A), RS1000160932 (1:117190462 A>T), RS1000243313 (1:117143623 C>G,T), RS1000267797 (1:117183922 G>A), RS1000270113 (1:117163757 G>A), RS1000320220 (1:117194151 G>A), RS1000323008 (1:117163378 A>T), RS1000366807 (1:117211523 A>G), RS1000379687 (1:117176975 C>G,T), RS1000453638 (1:117212788 G>T)

Disease associations

OMIM: gene MIM:608162 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST000309_1	Arthritis (juvenile idiopathic)	1.000000e-06
GCST012317_8	Triglyceride levels x SSRI levels (escitalopram or citalopram) interaction in schizophrenia or bipolar disorder	4.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004530	triglyceride measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, affects cotreatment	4
Benzo(a)pyrene	affects methylation, decreases expression	3
sodium arsenite	decreases expression, increases expression	2
Zoledronic Acid	increases expression	2
Estradiol	affects cotreatment, increases expression, decreases expression	2
Nickel	decreases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Tetrachlorodibenzodioxin	affects cotreatment, increases expression	2
Tobacco Smoke Pollution	affects expression, decreases expression	2
Tretinoin	increases expression	2
Cyclosporine	decreases expression	2
Cadmium Chloride	decreases expression, increases abundance, increases expression	2
chloroacetaldehyde	affects expression	1
propionaldehyde	increases expression	1
bisphenol A	affects expression	1
trichostatin A	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
14-deoxy-11,12-didehydroandrographolide	decreases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
Cidofovir	increases expression	1
Allergens	increases expression, affects cotreatment, decreases abundance	1
Vehicle Emissions	affects cotreatment, decreases abundance, increases expression	1
Cadmium	decreases expression, increases abundance	1
Calcitriol	increases expression	1
Clodronic Acid	increases expression	1
Diethylhexyl Phthalate	decreases expression, increases expression	1
Ethinyl Estradiol	affects expression	1
Indomethacin	increases expression	1
Methotrexate	increases expression	1

Cellosaurus cell lines

10 cell lines: 4 cancer cell line, 3 spontaneously immortalized cell line, 3 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_5969	C-643	Cancer cell line	Male
CVCL_B8RR	Abcam HCT 116 VTCN1 KO	Cancer cell line	Male
CVCL_B9U6	Abcam A-549 VTCN1 KO	Cancer cell line	Male
CVCL_D7BI	Abeomics CHO-K1 hB7-H4	Spontaneously immortalized cell line	Female
CVCL_E6SD	Genomeditech CHO-K1 H_VTCN1(B7H4)	Spontaneously immortalized cell line	Female
CVCL_E6VB	Genomeditech HEK-293 H_VTCN1(BTH4)	Transformed cell line	Female
CVCL_KA48	CHO-K1/B7-H4	Spontaneously immortalized cell line	Female
CVCL_UE29	CT26.WT human B7H4	Cancer cell line	Female
CVCL_UE34	293T human B7H4	Transformed cell line	Female
CVCL_UE95	293T OS8-hB7H4	Transformed cell line	Female

Clinical trials (associated diseases)

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