CCL8

Summary

CCL8 (C-C motif chemokine ligand 8, HGNC:10635) is a protein-coding gene on chromosome 17q12, encoding C-C motif chemokine 8 (P80075). Chemotactic factor that attracts monocytes, lymphocytes, basophils and eosinophils.

This antimicrobial gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of N-terminal cysteine residues of the mature peptide. This chemokine is a member of the CC subfamily which is characterized by two adjacent cysteine residues. This cytokine displays chemotactic activity for monocytes, lymphocytes, basophils and eosinophils. By recruiting leukocytes to sites of inflammation this cytokine may contribute to tumor-associated leukocyte infiltration and to the antiviral state against HIV infection.

Source: NCBI Gene 6355 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 24 total
• MANE Select transcript: NM_005623

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10635
Approved symbol	CCL8
Name	C-C motif chemokine ligand 8
Location	17q12
Locus type	gene with protein product
Status	Approved
Aliases	MCP-2, HC14
Ensembl gene	ENSG00000108700
Ensembl biotype	protein_coding
OMIM	602283
Entrez	6355

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000394620

RefSeq mRNA: 1 — MANE Select: NM_005623 NM_005623

CCDS: CCDS11280

Canonical transcript exons

ENST00000394620 — 3 exons

Exon	Start	End
ENSE00000713724	34320269	34320386
ENSE00001244557	34319435	34319577
ENSE00001519013	34320802	34321402

Expression profiles

Bgee: expression breadth ubiquitous, 208 present calls, max score 94.35.

FANTOM5 (CAGE): breadth broad, TPM avg 28.5425 / max 2783.2545, expressed in 378 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
160317	28.5425	378

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	94.35	gold quality
buccal mucosa cell	CL:0002336	92.24	silver quality
vena cava	UBERON:0004087	91.84	gold quality
parietal pleura	UBERON:0002400	90.90	gold quality
mucosa of transverse colon	UBERON:0004991	89.91	gold quality
colonic epithelium	UBERON:0000397	89.32	gold quality
decidua	UBERON:0002450	89.04	gold quality
rectum	UBERON:0001052	85.95	gold quality
pleura	UBERON:0000977	84.14	gold quality
mammary duct	UBERON:0001765	82.85	gold quality
superficial temporal artery	UBERON:0001614	82.28	gold quality
smooth muscle tissue	UBERON:0001135	82.00	gold quality
cardiac muscle of right atrium	UBERON:0003379	81.65	gold quality
epithelium of mammary gland	UBERON:0003244	81.56	gold quality
gall bladder	UBERON:0002110	80.91	gold quality
duodenum	UBERON:0002114	78.74	gold quality
jejunal mucosa	UBERON:0000399	77.89	gold quality
mucosa of sigmoid colon	UBERON:0004993	77.63	gold quality
omental fat pad	UBERON:0010414	77.36	gold quality
pericardium	UBERON:0002407	77.31	gold quality
peritoneum	UBERON:0002358	77.29	gold quality
caecum	UBERON:0001153	77.04	gold quality
adipose tissue of abdominal region	UBERON:0007808	76.96	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	76.84	silver quality
transverse colon	UBERON:0001157	76.62	gold quality
myocardium	UBERON:0002349	76.23	gold quality
layer of synovial tissue	UBERON:0007616	76.14	gold quality
colonic mucosa	UBERON:0000317	75.25	gold quality
mammary gland	UBERON:0001911	74.94	gold quality
thoracic mammary gland	UBERON:0005200	74.84	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-HCAD-11	yes	2906.39
E-CURD-46	yes	19.56
E-ANND-3	yes	6.25
E-MTAB-2983	no	4764.77

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): BCL6, CEBPB, PRDM1, STAT1, STAT3, STAT5A, STAT6, YY1

miRNA regulators (miRDB)

35 targeting CCL8, 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-190A-3P	100.00	80.35	5520
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-944	99.82	70.85	3042
HSA-MIR-4668-5P	99.79	70.58	3782
HSA-MIR-3680-3P	99.75	72.51	3095
HSA-MIR-7159-5P	99.53	72.12	2472
HSA-MIR-455-3P	98.94	67.68	878
HSA-MIR-4424	98.91	70.33	1145
HSA-MIR-4752	98.71	68.04	833
HSA-MIR-3691-5P	98.62	65.88	552
HSA-MIR-1265	98.36	66.46	598
HSA-MIR-4733-3P	98.35	65.20	994

Literature-anchored findings (GeneRIF, showing 32)

• CCL8 is an antimicrobial protein with bacteriocidal activity against E. coli. (PMID:12949249)
• TRAIL pretreatment of endothelial cells down-modulated mRNA steady-state levels of several TNF-alpha-induced chemokines, and it abrogated the TNF-alpha-mediated up-regulation of CCL8 and CXCL10, modulating leukocyte/endothelial cell adhesion (PMID:15644410)
• Angiotensin II directly stimulates MCP-2 expression through AT1-receptors in activated macrophages (PMID:17487826)
• CCL8 is a promising specific serum marker for the early and accurate diagnosis of graft-versus-host disease. (PMID:18256320)
• A new finding is the differential distribution of CCL8 marker alleles and a haplotype in extreme severity subgroups of MS. (PMID:18602166)
• MMP-12 truncates and inactivates ELR+ CXC chemokines and generates CCL2, -7, -8, and -13 antagonists (PMID:18660381)
• IP-10 and MCP-2 are expressed in tuberculosis patients (PMID:18684849)
• These data indicate that optimal induction and delivery of MCP-2/CCL8 is counteracted by converting this chemokine into a receptor antagonist, thereby losing its anti-tumoral potential. (PMID:19224633)
• CCL8/MCP rs1133763 SNP, or other variants in linkage disequilibrium with this variant, likely do not influence the susceptibility to AD or FTLD in Caucasians. (PMID:19415413)
• CCL8/MCP-2 is a target for mir-146a in HIV-1 infected microglia, as overexpression of mir-146a prevented HIV-induced secretion of MCP-2 chemokine (PMID:20181935)
• Cytokine treatment increases mRNA stability only for chemokines CCL2 and CCL8 in airway epithelium, and transient silencing and overexpression of human antigen R affects only chemokine CCL2 and CCL8 expression in primary and transformed epithelial cells. (PMID:21220697)
• genetic polymorphhism is associated with a risk of death for non-small cell lung cancer in Chinese (PMID:21514686)
• Macrophage Colony Stimulating Factor and Monocyte Chemoattractant Protein are elevated in sera of intrinsic asthmatics compared to normal controls. (PMID:21945122)
• JAK2 and STAT3 activation is not essential for CCL3, CCL5 or CCL8 induced chemotaxis. (PMID:22987449)
• Results indicate that the induction of MCP-2/CCL8 by mycobacteria is dependent on the activation of TLR2/PI3K/Akt signaling pathway. (PMID:23418602)
• Authors show that the previously observed downregulation of hsa-miR-92a and upregulation of CCL8 during human cytomegalovirus latent infection of myeloid cells are intimately linked via the latency-associated expression of cytomegalovirus UL111A. (PMID:25253336)
• Dermal fibroblast CCL8 promotes melanoma metastasis. (PMID:26320180)
• Detecting expression changes in TLR4 and MCP2 in the peripheral blood is a feasible method for predicting the occurrence of abortion in women of child-bearing age (PMID:27173235)
• Findings exemplify how gradients of chemoattractive factors such as CCL8, drive metastasis and suggest that interference with their operation may provide means for breast cancer management. (PMID:27181207)
• Transcriptome analysis identified several novel IPF-related genes. Among them, CCL8 is a candidate molecule for the differential diagnosis and prediction of survival. (PMID:28057004)
• It was shown that MCP2 was able to activate the NF-kappaB signaling pathway inducing the epithelial-mesenchymal transition (EMT) and promoting the migration and invasion of ESCC cells in vitro. (PMID:29148603)
• MiR-345-5p was a tumor-suppressive miRNA in pancreatic cancer progression by targeting CCL8. (PMID:30841468)
• Weighted gene correlation network analysis identifies RSAD2, HERC5, and CCL8 as prognostic candidates for breast cancer. (PMID:31225658)
• The strongest associations with air pollution levels were observed among RANTES, TARC and MCP-2. Those chemokines may play important roles in the air pollution-induced inflammatory pathway. (PMID:31456427)
• CCL8 secreted by tumor-associated macrophages promotes invasion and stemness of glioblastoma cells via ERK1/2 signaling. (PMID:31748682)
• CCL18 promotes the invasion and metastasis of breast cancer through Annexin A2. (PMID:31894281)
• Silencing CCL8 inhibited the proliferation and migration of PDGF-BB-stimulated human aortic smooth muscle cells. (PMID:32432500)
• Possible involvement of crosstalk between endometrial cells and mast cells in the development of endometriosis via CCL8/CCR1. (PMID:32768961)
• CCL8 mediates crosstalk between endothelial colony forming cells and triple-negative breast cancer cells through IL-8, aggravating invasion and tumorigenicity. (PMID:33833397)
• PERK signaling through C/EBPdelta contributes to ER stress-induced expression of immunomodulatory and tumor promoting chemokines by cancer cells. (PMID:34725321)
• CCL8 as a promising prognostic factor in diffuse large B-cell lymphoma via M2 macrophage interactions: A bioinformatic analysis of the tumor microenvironment. (PMID:36072582)
• CCL2, CCL8, CXCL12 chemokines in resectable non-small cell lung cancer (NSCLC). (PMID:36628560)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	cxcl32b.1	ENSDARG00000071499
mus_musculus	Ccl8	ENSMUSG00000009185
mus_musculus	Ccl12	ENSMUSG00000035352
rattus_norvegicus	Ccl12	ENSRNOG00000029768

Paralogs (26): CX3CL1 (ENSG00000006210), CCL26 (ENSG00000006606), CCL22 (ENSG00000102962), CCL17 (ENSG00000102970), CCL24 (ENSG00000106178), CCL7 (ENSG00000108688), CCL2 (ENSG00000108691), CCL1 (ENSG00000108702), CCL20 (ENSG00000115009), CCL25 (ENSG00000131142), CCL21 (ENSG00000137077), XCL1 (ENSG00000143184), XCL2 (ENSG00000143185), CCL11 (ENSG00000172156), CCL19 (ENSG00000172724), CCL13 (ENSG00000181374), CCL5 (ENSG00000271503), CCL23 (ENSG00000274736), CCL16 (ENSG00000275152), CCL4 (ENSG00000275302), CCL18 (ENSG00000275385), CCL15 (ENSG00000275718), CCL4L2 (ENSG00000276070), CCL3L3 (ENSG00000276085), CCL14 (ENSG00000276409), CCL3 (ENSG00000277632)

Protein

Protein identifiers

C-C motif chemokine 8 — P80075 (reviewed: P80075)

Alternative names: HC14, Monocyte chemoattractant protein 2, Monocyte chemotactic protein 2, Small-inducible cytokine A8

All UniProt accessions (1): P80075

UniProt curated annotations — full annotation on UniProt →

Function. Chemotactic factor that attracts monocytes, lymphocytes, basophils and eosinophils. May play a role in neoplasia and inflammatory host responses. This protein can bind heparin. The processed form MCP-2(6-76) does not show monocyte chemotactic activity, but inhibits the chemotactic effect most predominantly of CCL7, and also of CCL2 and CCL5 and CCL8.

Subunit / interactions. Monomer or homodimer; in equilibrium.

Subcellular location. Secreted.

Tissue specificity. Highest expression found in the small intestine and peripheral blood cells. Intermediate levels seen in the heart, placenta, lung, skeletal muscle, thymus, colon, ovary, spinal cord and pancreas. Low levels seen in the brain, liver, spleen and prostate.

Post-translational modifications. N-terminal processed form MCP-2(6-76) is produced by proteolytic cleavage after secretion from peripheral blood monocytes.

Induction. By IFNG/IFN-gamma, mitogens and IL1/interleukin-1.

Similarity. Belongs to the intercrine beta (chemokine CC) family.

RefSeq proteins (1): NP_005614* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000827	Chemokine_CC_CS	Conserved_site
IPR001811	Chemokine_IL8-like_dom	Domain
IPR036048	Interleukin_8-like_sf	Homologous_superfamily
IPR039809	Chemokine_b/g/d	Family

Pfam: PF00048

UniProt features (16 total): strand 5, helix 3, chain 2, disulfide bond 2, sequence variant 2, signal peptide 1, modified residue 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
7S5A	X-RAY DIFFRACTION	1.37
1ESR	X-RAY DIFFRACTION	2
7S59	X-RAY DIFFRACTION	2.39

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P80075-F1	89.44	0.70

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 (1): 24

Disulfide bonds (2): 34–59, 35–75

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 258 (showing top): TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_MONOCYTE_UP, MODULE_92, GOBP_REGULATION_OF_LEUKOCYTE_PROLIFERATION, WALLACE_PROSTATE_CANCER_RACE_UP, GOBP_ANTIMICROBIAL_HUMORAL_RESPONSE, MCLACHLAN_DENTAL_CARIES_UP, GOBP_MYELOID_LEUKOCYTE_MIGRATION, GOBP_CELL_CHEMOTAXIS, GOBP_INFLAMMATORY_RESPONSE, GOBP_RESPONSE_TO_PEPTIDE, GOBP_NEGATIVE_REGULATION_OF_LEUKOCYTE_PROLIFERATION, MODULE_64, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, GOBP_MODULATION_OF_PROCESS_OF_ANOTHER_ORGANISM, GOBP_VESICLE_MEDIATED_TRANSPORT

GO Biological Process (18): positive regulation of leukocyte migration (GO:0002687), calcium ion transport (GO:0006816), intracellular calcium ion homeostasis (GO:0006874), exocytosis (GO:0006887), chemotaxis (GO:0006935), inflammatory response (GO:0006954), signal transduction (GO:0007165), cell-cell signaling (GO:0007267), response to virus (GO:0009615), positive regulation of cell migration (GO:0030335), host-mediated suppression of viral genome replication (GO:0044828), positive regulation of myoblast differentiation (GO:0045663), eosinophil chemotaxis (GO:0048245), antimicrobial humoral immune response mediated by antimicrobial peptide (GO:0061844), chemokine-mediated signaling pathway (GO:0070098), negative regulation of leukocyte proliferation (GO:0070664), positive regulation of myoblast fusion (GO:1901741), immune response (GO:0006955)

GO Molecular Function (7): protein kinase activity (GO:0004672), chemokine activity (GO:0008009), heparin binding (GO:0008201), phospholipase activator activity (GO:0016004), CCR chemokine receptor binding (GO:0048020), cytokine activity (GO:0005125), protein binding (GO:0005515)

GO Cellular Component (2): obsolete extracellular space (GO:0005615), extracellular region (GO:0005576)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cell communication	2
signaling	2
chemokine receptor binding	2
positive regulation of immune system process	1
regulation of leukocyte migration	1
positive regulation of cell migration	1
leukocyte migration	1
metal ion transport	1
intracellular monoatomic cation homeostasis	1
calcium ion homeostasis	1
vesicle-mediated transport	1
secretion by cell	1
vesicle fusion to plasma membrane	1
response to chemical	1
taxis	1
defense response	1
cellular process	1
regulation of cellular process	1
cellular response to stimulus	1
response to other organism	1
cell migration	1
regulation of cell migration	1
positive regulation of cell motility	1
viral genome replication	1
host-mediated perturbation of viral process	1
myoblast differentiation	1
positive regulation of cell differentiation	1
regulation of myoblast differentiation	1
granulocyte chemotaxis	1
eosinophil migration	1
antimicrobial humoral response	1
G protein-coupled receptor signaling pathway	1
cytokine-mediated signaling pathway	1
cellular response to chemokine	1
negative regulation of cell population proliferation	1
leukocyte proliferation	1
regulation of leukocyte proliferation	1
myoblast fusion	1
positive regulation of syncytium formation by plasma membrane fusion	1
regulation of myoblast fusion	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

16 interactions, top by confidence:

A	B	Type	Score
CCL8	CCL5	psi-mi:“MI:0407”(direct interaction)	0.440
CCL2	CCL8	psi-mi:“MI:0407”(direct interaction)	0.440
CCL11	CCL8	psi-mi:“MI:0407”(direct interaction)	0.440
CCL13	CCL8	psi-mi:“MI:0407”(direct interaction)	0.440
CCL26	CCL8	psi-mi:“MI:0407”(direct interaction)	0.440
CXCL2	CCL8	psi-mi:“MI:0407”(direct interaction)	0.440
CXCL6	CCL8	psi-mi:“MI:0407”(direct interaction)	0.440
CXCL8	CCL8	psi-mi:“MI:0407”(direct interaction)	0.440
CXCL10	CCL8	psi-mi:“MI:0407”(direct interaction)	0.440
CXCL11	CCL8	psi-mi:“MI:0407”(direct interaction)	0.440
CCL8	XCL2	psi-mi:“MI:0407”(direct interaction)	0.440
CCL8	PPBP	psi-mi:“MI:0407”(direct interaction)	0.440
CCL8	CXCL17	psi-mi:“MI:0407”(direct interaction)	0.440
CCL8	CCL2	psi-mi:“MI:0407”(direct interaction)	0.440
	GNAT3	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (15): CCL8 (Reconstituted Complex), CCL8 (Reconstituted Complex), CCL8 (Reconstituted Complex), CCL8 (Reconstituted Complex), CCL2 (Reconstituted Complex), CXCL17 (Reconstituted Complex), PPBP (Reconstituted Complex), XCL2 (Reconstituted Complex), CCL8 (Reconstituted Complex), CCL8 (Reconstituted Complex), CCL8 (Reconstituted Complex), CCL8 (Reconstituted Complex), CCL8 (Reconstituted Complex), CCL8 (Reconstituted Complex), CCL8 (Reconstituted Complex)

ESM2 similar proteins: F5HET8, O00626, O88430, O89093, P08317, P10889, P12850, P13500, P14095, P19874, P28291, P30348, P36925, P42830, P42831, P46653, P49873, P51671, P52203, P55774, P61274, P61275, P78556, P80075, P80098, P80221, P82943, Q03366, Q09141, Q16627, Q5RA36, Q62401, Q68AY9, Q68Y88, Q6W5C0, Q8HYP8, Q8HYP9, Q8I021, Q8MIT7, Q8SQB1

Diamond homologs: F5HET8, O00175, O00585, O00626, O55145, O88430, O97919, P10147, P10148, P10855, P13236, P13500, P13501, P14097, P14844, P16619, P27784, P28291, P28292, P30882, P42831, P46632, P47993, P49873, P50229, P50230, P50231, P51670, P51671, P52203, P55773, P55774, P61274, P61275, P78423, P80075, P80098, P80343, P82943, P97272

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 14 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
Chemokine receptors bind chemokines	11	171.6×	2e-23
Interleukin-10 signaling	5	97.1×	1e-08
Peptide ligand-binding receptors	5	30.9×	3e-06
G alpha (i) signalling events	9	29.2×	2e-11

GO biological processes:

GO term	Partners	Fold	FDR
eosinophil chemotaxis	5	261.7×	2e-10
chemokine-mediated signaling pathway	10	231.5×	5e-21
antimicrobial humoral immune response mediated by antimicrobial peptide	9	104.2×	7e-16
neutrophil chemotaxis	5	102.0×	2e-08
chemotaxis	10	97.1×	3e-17
cellular response to lipopolysaccharide	5	35.0×	3e-06
inflammatory response	12	32.3×	5e-16
cell-cell signaling	6	29.8×	4e-07

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	15
Likely benign	2
Benign	5

Top pathogenic / likely-pathogenic (0)

SpliceAI

270 predictions. Top by Δscore:

Variant	Effect	Δscore
17:34320376:G:GT	donor_gain	1.0000
17:34320387:G:GG	donor_gain	1.0000
17:34320264:TTCA:T	acceptor_loss	0.9900
17:34320267:A:AG	acceptor_gain	0.9900
17:34320267:AGAT:A	acceptor_loss	0.9900
17:34320268:G:GG	acceptor_gain	0.9900
17:34320268:G:GT	acceptor_loss	0.9900
17:34320382:GTGAT:G	donor_gain	0.9900
17:34320384:GAT:G	donor_gain	0.9900
17:34320462:A:G	donor_gain	0.9900
17:34320800:A:AG	acceptor_gain	0.9900
17:34320801:G:GG	acceptor_gain	0.9900
17:34320441:G:GT	donor_gain	0.9800
17:34320470:G:GT	donor_gain	0.9800
17:34320796:CCACA:C	acceptor_loss	0.9800
17:34320797:CACA:C	acceptor_loss	0.9800
17:34320798:ACAGC:A	acceptor_loss	0.9800
17:34320799:CA:C	acceptor_loss	0.9800
17:34320800:A:T	acceptor_loss	0.9800
17:34320801:G:GT	acceptor_loss	0.9800
17:34320265:TCAGA:T	acceptor_gain	0.9700
17:34320268:GATTC:G	acceptor_gain	0.9700
17:34320384:GATGT:G	donor_loss	0.9700
17:34320386:TG:T	donor_loss	0.9700
17:34320387:GTGAG:G	donor_loss	0.9700
17:34320388:TGAG:T	donor_loss	0.9700
17:34320389:G:GT	donor_loss	0.9700
17:34320390:A:AT	donor_loss	0.9700
17:34320462:A:AG	donor_gain	0.9700
17:34320376:G:T	donor_gain	0.9600

AlphaMissense

651 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:34320853:G:C	W82C	0.988
17:34320853:G:T	W82C	0.988
17:34320804:T:C	F66S	0.980
17:34320851:T:A	W82R	0.961
17:34320851:T:C	W82R	0.961
17:34320367:T:C	C59R	0.959
17:34320804:T:G	F66C	0.958
17:34320367:T:A	C59S	0.957
17:34320368:G:C	C59S	0.957
17:34320830:T:A	C75S	0.934
17:34320831:G:C	C75S	0.934
17:34320830:T:C	C75R	0.919
17:34320855:T:A	V83D	0.916
17:34320335:T:C	L48P	0.908
17:34320369:T:G	C59W	0.906
17:34320320:T:C	I43T	0.904
17:34320295:T:A	C35S	0.899
17:34320296:G:C	C35S	0.899
17:34320343:T:G	Y51D	0.898
17:34320833:G:C	A76P	0.898
17:34320854:G:C	V83L	0.896
17:34320834:C:A	A76D	0.891
17:34320379:G:C	A63P	0.890
17:34320831:G:A	C75Y	0.885
17:34320803:T:C	F66L	0.884
17:34320805:C:A	F66L	0.884
17:34320805:C:G	F66L	0.884
17:34320297:C:G	C35W	0.883
17:34320383:T:A	V64E	0.882
17:34320295:T:C	C35R	0.881

dbSNP variants (sampled 300 via entrez): RS1000002398 (17:34317830 G>A,T), RS1000497853 (17:34318249 A>G), RS1000550099 (17:34318055 T>C), RS1000956357 (17:34321183 G>A), RS1001826896 (17:34318674 C>G), RS1002582227 (17:34320452 T>C), RS1003081196 (17:34321037 G>A), RS1004693842 (17:34321365 A>T), RS1006204134 (17:34318428 C>G), RS1006694751 (17:34318979 T>C), RS1008416242 (17:34317725 C>T), RS1008467740 (17:34320709 C>A,G), RS1008830198 (17:34320867 T>A), RS1008863042 (17:34321858 C>T), RS1009116476 (17:34320179 T>C)

Disease associations

OMIM: gene MIM:602283 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST001438_14	Crohn’s disease	4.000000e-08
GCST006585_2012	Blood protein levels	1.000000e-58
GCST006585_455	Blood protein levels	0.000000e+00
GCST011742_36	Triglyceride levels in HIV infection	9.000000e-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

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

Chemical	Actions (top 5)	PubMed papers
Bleomycin	decreases reaction, increases expression	2
Nickel	increases expression	2
tributyltin	decreases secretion, affects cotreatment	1
sodium arsenite	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, increases expression, decreases reaction	1
methyl caffeate	decreases reaction, increases expression	1
di-n-butyltin	affects cotreatment, increases secretion	1
gadodiamide	increases expression, increases secretion	1
vanadium pentoxide	increases expression	1
5,7-dihydroxy-6-methoxy-2-phenylchromen-4-one	decreases reaction, increases expression	1
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
pyrazolanthrone	increases reaction, increases expression	1
lipopolysaccharide, E. coli O26-B6	increases expression	1
Bortezomib	affects expression	1
Zoledronic Acid	increases expression	1
Acetylcysteine	increases secretion, decreases reaction	1
Atrazine	increases expression	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Calcitriol	increases expression, affects cotreatment	1
Doxorubicin	decreases expression	1
Lipopolysaccharides	affects cotreatment, decreases reaction, increases expression	1
Methotrexate	decreases expression	1
Morphine	increases secretion	1
Mustard Gas	increases secretion	1
Testosterone	affects cotreatment, increases expression	1
Dronabinol	increases expression	1
Mifepristone	decreases expression	1
Aflatoxin B1	decreases methylation	1
Antirheumatic Agents	decreases expression	1

Clinical trials (associated diseases)

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