IGSF8

Summary

IGSF8 (immunoglobulin superfamily member 8, HGNC:17813) is a protein-coding gene on chromosome 1q23.2, encoding Immunoglobulin superfamily member 8 (Q969P0). Member of the immunoglobulin superfamily (IgSF) that links tetraspanin-enriched microdomains to the actin cytoskeleton and plays several important roles in innate and adaptive immunity.

This gene encodes a member the EWI subfamily of the immunoglobulin protein superfamily. Members of this family contain a single transmembrane domain, an EWI (Glu-Trp-Ile)-motif and a variable number of immunoglobulin domains. This protein interacts with the tetraspanins CD81 and CD9 and may regulate their role in certain cellular functions including cell migration and viral infection. The encoded protein may also function as a tumor suppressor by inhibiting the proliferation of certain cancers. Alternate splicing results in multiple transcript variants that encode the same protein.

Source: NCBI Gene 93185 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 129 total
• MANE Select transcript: NM_052868

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17813
Approved symbol	IGSF8
Name	immunoglobulin superfamily member 8
Location	1q23.2
Locus type	gene with protein product
Status	Approved
Aliases	CD81P3, EWI2, PGRL, CD316
Ensembl gene	ENSG00000162729
Ensembl biotype	protein_coding
OMIM	606644
Entrez	93185

Gene structure

Transcript identifiers

Ensembl transcripts: 23 — 22 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000314485, ENST00000368086, ENST00000448417, ENST00000460351, ENST00000614243, ENST00000883984, ENST00000883985, ENST00000883986, ENST00000883987, ENST00000883988, ENST00000883989, ENST00000883990, ENST00000883991, ENST00000918089, ENST00000918090, ENST00000918091, ENST00000918092, ENST00000918093, ENST00000918094, ENST00000918095, ENST00000942049, ENST00000942050, ENST00000942051

RefSeq mRNA: 3 — MANE Select: NM_052868 NM_001206665, NM_001320247, NM_052868

CCDS: CCDS1195

Canonical transcript exons

ENST00000314485 — 7 exons

Exon	Start	End
ENSE00001068019	160094869	160095246
ENSE00001068024	160092924	160093331
ENSE00001347776	160092282	160092695
ENSE00001411208	160091808	160091938
ENSE00001823566	160091343	160091608
ENSE00003786642	160093710	160094171
ENSE00003850938	160098409	160098619

Expression profiles

Bgee: expression breadth ubiquitous, 217 present calls, max score 98.73.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.4694 / max 284.1488, expressed in 1766 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
15470	11.9343	1747
15467	3.4273	1152
15469	1.5692	777
15471	0.1940	79
15472	0.1498	64
15473	0.1264	58
15468	0.0685	8

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right hemisphere of cerebellum	UBERON:0014890	98.73	gold quality
cerebellar hemisphere	UBERON:0002245	98.53	gold quality
right frontal lobe	UBERON:0002810	98.43	gold quality
cerebellar cortex	UBERON:0002129	98.41	gold quality
Brodmann (1909) area 9	UBERON:0013540	98.34	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	98.28	gold quality
prefrontal cortex	UBERON:0000451	97.70	gold quality
cerebellum	UBERON:0002037	97.31	gold quality
anterior cingulate cortex	UBERON:0009835	97.20	gold quality
spinal cord	UBERON:0002240	97.16	gold quality
putamen	UBERON:0001874	96.31	gold quality
hypothalamus	UBERON:0001898	96.29	gold quality
frontal cortex	UBERON:0001870	96.17	gold quality
frontal lobe	UBERON:0016525	96.17	gold quality
amygdala	UBERON:0001876	96.16	gold quality
nucleus accumbens	UBERON:0001882	96.16	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	96.16	gold quality
caudate nucleus	UBERON:0001873	95.87	gold quality
neocortex	UBERON:0001950	95.64	gold quality
cortical plate	UBERON:0005343	94.98	gold quality
popliteal artery	UBERON:0002250	94.47	gold quality
tibial artery	UBERON:0007610	94.45	gold quality
cerebral cortex	UBERON:0000956	94.31	gold quality
brain	UBERON:0000955	94.24	gold quality
forebrain	UBERON:0001890	94.09	gold quality
mucosa of transverse colon	UBERON:0004991	94.06	gold quality
descending thoracic aorta	UBERON:0002345	93.81	gold quality
aorta	UBERON:0000947	93.74	gold quality
Ammon’s horn	UBERON:0001954	93.68	gold quality
substantia nigra	UBERON:0002038	93.41	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-CURD-114	yes	12.55
E-ANND-3	yes	4.89
E-GEOD-36552	no	56.03

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

36 targeting IGSF8, 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-4673	100.00	66.64	1490
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-4645-5P	99.98	65.81	1284
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-4493	99.90	66.48	977
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-2116-3P	99.74	64.32	889
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-30B-3P	99.70	65.76	2325
HSA-MIR-3689A-3P	99.70	65.73	2306
HSA-MIR-3689B-3P	99.70	65.71	2311
HSA-MIR-3689C	99.70	65.71	2311
HSA-MIR-6779-5P	99.70	65.76	2363
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-7106-5P	99.53	67.47	3574
HSA-MIR-4696	99.48	67.48	1040
HSA-MIR-6799-5P	99.14	65.72	2093

Literature-anchored findings (GeneRIF, showing 18)

• EWI2/PGRL associates with the metastasis suppressor KAI1/CD82 and inhibits the migration of prostate cancer cells. (PMID:12750295)
• EWI-2-dependent reorganization of alpha4beta1-CD81 complexes on the cell surface is responsible for EWI-2 effects on integrin-dependent morphology and motility functions (PMID:15070678)
• EWI proteins EWI-2 and EWI-F, alpha3beta1 and alpha6beta4 integrins, and protein palmitoylation have contrasting effects on cell surface CD9 organization (PMID:16537545)
• EWI-2 and EWI-F link the tetraspanin web to the actin cytoskeleton through their direct association with ezrin-radixin-moesin proteins (PMID:16690612)
• Important functions of recently activated dendritic cells are thus critically modulated by the newly discovered HSPA8-EWI-2 interaction. (PMID:17785435)
• CD81 partner EWI-2wint inhibits hepatitis C virus entry [EWI-2wint] (PMID:18382656)
• EWI-2 causes a substantial molecular reorganization of multiple molecules known to affect proliferation and/or invasion of astrocytes and/or glioblastomas. (PMID:19107234)
• analysis of interacting regions of CD81 and two of its partners, EWI-2 and EWI-2wint, and their effect on hepatitis C virus infection (PMID:21343309)
• A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration. (PMID:22360420)
• The EWI-2/alpha-actinin complex is involved in regulation of the actin cytoskeleton at T cell immune and virological synapses, providing a link between membrane microdomains and the formation of polarized membrane structures involved in T cell recognition. (PMID:22689882)
• Authors demonstrated that EWI-2wint promotes CD81 clustering and confinement in CD81-enriched areas. (PMID:23351194)
• EWI-2 negatively regulates TGF-beta signaling and its downstream events including cytostasis (in vitro and in vivo), EMT-like changes, cell migration, CD271-dependent invasion, and lung metastasis (in vivo). (PMID:25656846)
• EWI-2 Inhibits Cell-Cell Fusion at the HIV-1 Virological Presynapse. (PMID:31757023)
• EWI-2 controls nucleocytoplasmic shuttling of EGFR signaling molecules and miRNA sorting in exosomes to inhibit prostate cancer cell metastasis. (PMID:33605506)
• EWI2 promotes endolysosome-mediated turnover of growth factor receptors and integrins to suppress lung cancer. (PMID:35339615)
• EWI2 prevents EGFR from clustering and endocytosis to reduce tumor cell movement and proliferation. (PMID:35773608)
• EWI2 and its relatives in Tetraspanin-enriched membrane domains regulate malignancy. (PMID:36788350)
• IGSF8 is an innate immune checkpoint and cancer immunotherapy target. (PMID:38657602)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	igsf8	ENSDARG00000038467
mus_musculus	Igsf8	ENSMUSG00000038034
rattus_norvegicus	Igsf8	ENSRNOG00000007604

Paralogs (5): PTGFRN (ENSG00000134247), CD101 (ENSG00000134256), IGSF3 (ENSG00000143061), VSTM4 (ENSG00000165633), VSTM2A (ENSG00000170419)

Protein

Protein identifiers

Immunoglobulin superfamily member 8 — Q969P0 (reviewed: Q969P0)

Alternative names: CD81 partner 3, Glu-Trp-Ile EWI motif-containing protein 2, Keratinocytes-associated transmembrane protein 4, LIR-D1, Prostaglandin regulatory-like protein

All UniProt accessions (2): C9J8Z4, Q969P0

UniProt curated annotations — full annotation on UniProt →

Function. Member of the immunoglobulin superfamily (IgSF) that links tetraspanin-enriched microdomains to the actin cytoskeleton and plays several important roles in innate and adaptive immunity. Acts as an inducible receptor of HSPA8 on dendritic cells to enhance the CCL21/SLC-dependent migration of activated mature dendritic cells while attenuating their antigen-specific stimulatory capacities. In complex with alpha-actinins ACTN1 and ACTN4, regulates actin dynamics in the immune synapse and subsequent T-cell activation. Inhibits the entry of several viruses such as hepatitis C Virus (HCV) or HIV-1. Mechanistically, promotes a change in CD81 organization at the plasma membrane by significantly restricting its diffusion which in turn influences CD81 interaction with Claudin-1/CLDN1, preventing CLDN1 from acting as a co-receptor required for HCV entry. Accumulates at the presynaptic terminal, the producer cell side of the virological synapse, to prevent HIV-1 Env-mediated cell-cell fusion. Highly expressed on malignant cells with antigen presentation defects, interacts with NK receptor KIR3DL2 to suppress NK-cell cytotoxicity. May participate in the regulation of neurite outgrowth and maintenance of the neural network in the adult brain.

Subunit / interactions. Interacts directly with CD82, CD81/tetraspanin-28 and CD9/tetraspanin-29. Also interacts with integrin alpha-3/beta-1 and integrin alpha-4/beta-1. Interacts with HSPA8; this interaction modulates migratory and antigen-presenting capacities of dendritic cells.

Subcellular location. Cell membrane.

Tissue specificity. Expressed in brain, kidney, testis, liver and placenta with moderate expression in all other tissues. Detected on a majority of B-cells, T-cells, and natural killer cells. Expressed on dendritic cells.

Domain organisation. The Ig-like C2-type domains 3 and 4 are required for interaction with CD81. The short cytoplasmic domain is very basic, interacts with membrane PIPs, and mediates plasma membrane localization.

Isoforms (3)

UniProt ID	Names	Canonical?
Q969P0-1	1	yes
Q969P0-2	2
Q969P0-3	3

RefSeq proteins (3): NP_001193594, NP_001307176, NP_443100* (*=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
IPR051102	IgSF_V-set/TM_domain	Family

Pfam: PF07686

UniProt features (26 total): disulfide bond 4, domain 4, glycosylation site 3, splice variant 3, lipid moiety-binding region 2, topological domain 2, sequence conflict 2, signal peptide 1, chain 1, short sequence motif 1, modified residue 1, transmembrane region 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q969P0-F1	88.24	0.66

Functional residue map

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

Post-translational modifications (3): 518, 604, 605

Disulfide bonds (4): 49–127, 186–270, 326–406, 462–544

Glycosylation sites (3): 50, 327, 463

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 114 (showing top): GOBP_SINGLE_FERTILIZATION, GOBP_MUSCLE_TISSUE_DEVELOPMENT, MYOGENIN_Q6, GCANCTGNY_MYOD_Q6, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, EFC_Q6, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM1, NF1_Q6_01, GOBP_SKELETAL_MUSCLE_ORGAN_DEVELOPMENT, TGANTCA_AP1_C, E12_Q6, GOBP_FERTILIZATION, CUI_TCF21_TARGETS_2_UP, MILI_PSEUDOPODIA_CHEMOTAXIS_DN

GO Biological Process (6): single fertilization (GO:0007338), nervous system development (GO:0007399), skeletal muscle tissue development (GO:0007519), positive regulation of cell migration (GO:0030335), cell motility (GO:0048870), regulation of cell motility (GO:2000145)

GO Molecular Function (2): signaling receptor activity (GO:0038023), protein binding (GO:0005515)

GO Cellular Component (5): plasma membrane (GO:0005886), membrane (GO:0016020), presynaptic membrane (GO:0042734), extracellular exosome (GO:0070062), hippocampal mossy fiber to CA3 synapse (GO:0098686)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
fertilization	1
system development	1
striated muscle tissue development	1
skeletal muscle organ development	1
cell migration	1
regulation of cell migration	1
positive regulation of cell motility	1
cellular process	1
regulation of locomotion	1
cell motility	1
regulation of cellular process	1
molecular transducer activity	1
binding	1
membrane	1
cell periphery	1
cellular anatomical structure	1
synaptic membrane	1
presynapse	1
extracellular vesicle	1
thorny excrescence	1
neuron to neuron synapse	1
hippocampal mossy fiber expansion	1

Protein interactions and networks

STRING

784 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
IGSF8	CD9	P21926	997
IGSF8	CD81	P18582	995
IGSF8	B4E171	B4E171	937
IGSF8	CD82	P27701	840
IGSF8	EZR	P15311	693
IGSF8	RDX	P35241	677
IGSF8	MSN	P26038	631
IGSF8	CD151	P48509	582
IGSF8	ITGA3	P26006	504
IGSF8	HSPA8	P11142	499
IGSF8	ACTN4	O43707	490
IGSF8	EGFR	P00533	478
IGSF8	STOM	P27105	476
IGSF8	ITGA4	P13612	465
IGSF8	CD63	P08962	452

IntAct

101 interactions, top by confidence:

A	B	Type	Score
TSPAN15	ADAM10	psi-mi:“MI:0914”(association)	0.840
TSPAN5	ADAM10	psi-mi:“MI:0914”(association)	0.800
CD9	IGSF8	psi-mi:“MI:0914”(association)	0.760
CD9	ADAM10	psi-mi:“MI:0914”(association)	0.750
ADAM10	CD9	psi-mi:“MI:0914”(association)	0.750
IGSF8	KRTAP10-7	psi-mi:“MI:0915”(physical association)	0.720
IGSF8	KRTAP10-8	psi-mi:“MI:0915”(physical association)	0.720
KRTAP10-7	IGSF8	psi-mi:“MI:0915”(physical association)	0.720
KRTAP10-8	IGSF8	psi-mi:“MI:0915”(physical association)	0.720
IGSF8		psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-4	IGSF8	psi-mi:“MI:0915”(physical association)	0.560
IGSF8	KRTAP10-9	psi-mi:“MI:0915”(physical association)	0.560
	IGSF8	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-9	IGSF8	psi-mi:“MI:0915”(physical association)	0.560
KRTAP1-1	IGSF8	psi-mi:“MI:0915”(physical association)	0.560
IGSF8	KRTAP2-4	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (275): KRTAP10-4 (Two-hybrid), KRTAP10-7 (Two-hybrid), KRTAP10-9 (Two-hybrid), KRTAP10-8 (Two-hybrid), KRTAP10-3 (Two-hybrid), EIF2B5 (Affinity Capture-MS), HADHB (Affinity Capture-MS), TMEM160 (Affinity Capture-MS), EIF2B4 (Affinity Capture-MS), TBRG4 (Affinity Capture-MS), DNM3 (Affinity Capture-MS), CD9 (Affinity Capture-MS), EIF2B2 (Affinity Capture-MS), DNAJC14 (Affinity Capture-MS), ADPRHL2 (Affinity Capture-MS)

ESM2 similar proteins: A4FV98, A5D7B1, A5PK51, A6QLN9, A8MUP2, D3ZVU9, O15527, O35595, O75078, O95848, P57775, Q05B60, Q06643, Q14728, Q14CX5, Q1LZB9, Q27HK4, Q2T9T5, Q2TBS1, Q3UGX3, Q4R3I0, Q4V892, Q58CT4, Q5E9H2, Q5RCI5, Q5SUV1, Q5TM22, Q642A6, Q6IA17, Q6PCB0, Q6XQN6, Q862Z7, Q8N8L6, Q8R2R5, Q8R2Z5, Q8R366, Q8WUG5, Q95JH0, Q95JH2, Q969P0

Diamond homologs: A0JPB1, A8E0Y8, O75054, Q5U5A3, Q6ZQA6, Q8R366, Q93033, Q969P0, Q62786, Q9P2B2, Q9WV91

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 76 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Keratinization	10	10.5×	7e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	106
Likely benign	1
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1161 predictions. Top by Δscore:

Variant	Effect	Δscore
1:160091939:C:CC	acceptor_gain	1.0000
1:160092693:CAC:C	acceptor_gain	1.0000
1:160092694:ACCT:A	acceptor_loss	1.0000
1:160092696:CTGC:C	acceptor_loss	1.0000
1:160092697:T:G	acceptor_loss	1.0000
1:160091934:CAGGG:C	acceptor_gain	0.9900
1:160091936:GGG:G	acceptor_gain	0.9900
1:160091936:GGGC:G	acceptor_loss	0.9900
1:160091937:GGCT:G	acceptor_loss	0.9900
1:160091938:GC:G	acceptor_loss	0.9900
1:160091939:CTGG:C	acceptor_loss	0.9900
1:160091940:T:A	acceptor_loss	0.9900
1:160092276:ACTC:A	donor_loss	0.9900
1:160092277:CTCA:C	donor_loss	0.9900
1:160092278:TCA:T	donor_loss	0.9900
1:160092279:CACCA:C	donor_loss	0.9900
1:160092280:A:C	donor_loss	0.9900
1:160092281:C:CA	donor_loss	0.9900
1:160092281:CCATG:C	donor_gain	0.9900
1:160092691:CACAC:C	acceptor_gain	0.9900
1:160092696:C:CC	acceptor_gain	0.9900
1:160092926:T:TA	donor_gain	0.9900
1:160093328:CTGG:C	acceptor_gain	0.9900
1:160093329:TGG:T	acceptor_gain	0.9900
1:160093708:A:AC	donor_gain	0.9900
1:160093709:C:CC	donor_gain	0.9900
1:160093709:CA:C	donor_gain	0.9900
1:160093709:CACA:C	donor_gain	0.9900
1:160093709:CACAG:C	donor_gain	0.9900
1:160094867:A:AG	donor_loss	0.9900

AlphaMissense

3824 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:160093201:C:A	W345C	1.000
1:160093201:C:G	W345C	1.000
1:160093019:C:G	C406S	0.999
1:160093020:A:G	C406R	0.999
1:160093020:A:T	C406S	0.999
1:160093026:A:C	Y404D	0.999
1:160093203:A:G	W345R	0.999
1:160093203:A:T	W345R	0.999
1:160093259:C:G	C326S	0.999
1:160093259:C:T	C326Y	0.999
1:160093260:A:T	C326S	0.999
1:160093018:G:C	C406W	0.998
1:160093019:C:T	C406Y	0.998
1:160093258:G:C	C326W	0.998
1:160093259:C:A	C326F	0.998
1:160093260:A:G	C326R	0.998
1:160093812:A:C	Y268D	0.998
1:160094931:C:G	C127S	0.998
1:160094932:A:T	C127S	0.998
1:160092623:C:G	C462S	0.997
1:160092624:A:T	C462S	0.997
1:160093026:A:T	Y404N	0.997
1:160093064:A:G	L391P	0.997
1:160093202:C:G	W345S	0.997
1:160093805:C:G	C270S	0.997
1:160093806:A:T	C270S	0.997
1:160094057:C:G	C186S	0.997
1:160094058:A:T	C186S	0.997
1:160092384:A:C	Y542D	0.996
1:160092623:C:T	C462Y	0.996

dbSNP variants (sampled 300 via entrez): RS1000792721 (1:160101259 CACACACAG>C), RS1000863795 (1:160095448 C>T), RS1000947679 (1:160099510 G>A), RS1001086451 (1:160093747 T>C), RS1001623096 (1:160095825 G>A), RS1001751076 (1:160096755 T>G), RS1001953466 (1:160097425 C>A), RS1002256293 (1:160097701 T>C), RS1002469964 (1:160091955 G>T), RS1003217770 (1:160098730 G>C), RS1003592769 (1:160091740 C>G), RS1003721604 (1:160096080 G>A,C,T), RS1004742509 (1:160100495 C>A,T), RS1005082624 (1:160101027 G>C,T), RS1005273634 (1:160098708 T>A,C)

Disease associations

OMIM: gene MIM:606644 | 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

29 total (human), top 29 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	2
Benzo(a)pyrene	affects methylation, decreases expression	2
Cyclosporine	decreases expression, decreases methylation	2
Particulate Matter	decreases expression, increases abundance, increases expression	2
GSK-J4	decreases expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
titanium dioxide	increases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
abrine	decreases expression	1
3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol	increases expression	1
Sunitinib	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Amiodarone	increases expression	1
Vehicle Emissions	decreases expression, increases abundance	1
Cisplatin	increases expression	1
Doxorubicin	decreases expression	1
Environmental Pollutants	affects expression	1
Estradiol	increases expression	1
Ivermectin	decreases expression	1
Silicon Dioxide	increases expression	1
Smoke	decreases expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Tretinoin	increases expression	1
Valproic Acid	increases expression	1
1-Methyl-4-phenylpyridinium	increases expression	1
Gold Compounds	increases expression	1
Genistein	increases expression	1

Clinical trials (associated diseases)

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