CCL7

gene
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Also known as MCP-3NC28FICMARCMCP3

Summary

CCL7 (C-C motif chemokine ligand 7, HGNC:10634) is a protein-coding gene on chromosome 17q12, encoding C-C motif chemokine 7 (P80098). Chemotactic factor that plays an important role in immune regulation.

This gene encodes monocyte chemotactic protein 3, a secreted chemokine which attracts macrophages during inflammation and metastasis. It is a member of the C-C subfamily of chemokines which are characterized by having two adjacent cysteine residues. The protein is an in vivo substrate of matrix metalloproteinase 2, an enzyme which degrades components of the extracellular matrix. This gene is part of a cluster of C-C chemokine family members on chromosome 17q.

Source: NCBI Gene 6354 — RefSeq curated summary.

At a glance

  • GWAS associations: 7
  • Clinical variants (ClinVar): 11 total
  • Druggable target: yes
  • MANE Select transcript: NM_006273

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:10634
Approved symbolCCL7
NameC-C motif chemokine ligand 7
Location17q12
Locus typegene with protein product
StatusApproved
AliasesMCP-3, NC28, FIC, MARC, MCP3
Ensembl geneENSG00000108688
Ensembl biotypeprotein_coding
OMIM158106
Entrez6354

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000378569, ENST00000394627, ENST00000394630

RefSeq mRNA: 1 — MANE Select: NM_006273 NM_006273

CCDS: CCDS11278

Canonical transcript exons

ENST00000378569 — 3 exons

ExonStartEnd
ENSE000005545063427114634271263
ENSE000018553003427169734272242
ENSE000019060933427022134270366

Expression profiles

Bgee: expression breadth ubiquitous, 124 present calls, max score 75.78.

FANTOM5 (CAGE): breadth broad, TPM avg 14.4595 / max 2250.0791, expressed in 489 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter IDTPM avgSamples expressed
16030714.3956488
1603080.063927

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
frontal poleUBERON:000279575.78gold quality
type B pancreatic cellCL:000016975.53gold quality
paraflocculusUBERON:000535174.67gold quality
endometrium epitheliumUBERON:000481174.50gold quality
olfactory bulbUBERON:000226474.20gold quality
middle frontal gyrusUBERON:000270273.94gold quality
islet of LangerhansUBERON:000000672.69gold quality
mucosa of urinary bladderUBERON:000125971.27silver quality
stromal cell of endometriumCL:000225570.49gold quality
hair follicleUBERON:000207368.80gold quality
amniotic fluidUBERON:000017367.68silver quality
cartilage tissueUBERON:000241866.74gold quality
skeletal muscle tissue of rectus abdominisUBERON:000451165.80gold quality
cerebellar vermisUBERON:000472064.59gold quality
diaphragmUBERON:000110363.64gold quality
vermiform appendixUBERON:000115463.36gold quality
caecumUBERON:000115362.68gold quality
thymusUBERON:000237062.49gold quality
male germ cellCL:000001562.39gold quality
cervix squamous epitheliumUBERON:000692262.05gold quality
Brodmann (1909) area 10UBERON:001354161.38gold quality
spermCL:000001960.99gold quality
quadriceps femorisUBERON:000137760.59gold quality
oocyteCL:000002360.42gold quality
rectumUBERON:000105260.30gold quality
smooth muscle tissueUBERON:000113560.28gold quality
upper arm skinUBERON:000426360.03gold quality
vastus lateralisUBERON:000137959.92gold quality
gingival epitheliumUBERON:000194959.85gold quality
lower lobe of lungUBERON:000894959.63silver quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

ExperimentMarker?Max mean expression
E-ANND-3no1.64

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AP1, BCL6, CTNNB1, ESR1, ETV5, ETV6, HAND2, HR, JUN, LEF1, STAT6, TRPV4

miRNA regulators (miRDB)

47 targeting CCL7, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-LET-7F-1-3P100.0074.023928
HSA-LET-7A-3P100.0074.033932
HSA-LET-7B-3P100.0074.083913
HSA-MIR-98-3P100.0074.083907
HSA-MIR-4668-3P100.0068.742635
HSA-MIR-450099.9972.722367
HSA-MIR-548C-3P99.9974.017587
HSA-LET-7A-5P99.9872.291790
HSA-LET-7B-5P99.9872.311790
HSA-LET-7C-5P99.9872.291790
HSA-LET-7E-5P99.9872.291790
HSA-LET-7F-5P99.9872.561784
HSA-LET-7G-5P99.9872.371784
HSA-LET-7I-5P99.9872.371788
HSA-MIR-98-5P99.9872.331787
HSA-LET-7F-2-3P99.9870.982588
HSA-MIR-1185-1-3P99.9871.042593
HSA-MIR-1185-2-3P99.9871.042593
HSA-MIR-4789-5P99.9870.762721
HSA-LET-7D-5P99.9671.761632
HSA-MIR-445899.9671.641650
HSA-MIR-23A-3P99.9574.243163
HSA-MIR-23B-3P99.9574.243163
HSA-MIR-23C99.9573.923192
HSA-MIR-380-3P99.8970.181978
HSA-MIR-7845-5P99.8864.88771
HSA-MIR-30A-3P99.8769.742928
HSA-MIR-30D-3P99.8769.922917
HSA-MIR-30E-3P99.8769.682942
HSA-MIR-4760-5P99.8069.881619

Literature-anchored findings (GeneRIF, showing 40)

  • The two most abundant alleles of the CA/GA microsatellite polymorphism in the promoter-enhancer region of the MCP-3 gene, A2 and A3, are significantly associated with multiple sclerosis in the Belgian case-control study, but not in the family study. (PMID:12127674)
  • overexpression of MCP-3 in early-stage systemic sclerosis suggests a novel role for this protein as a fibrotic mediator activating extracellular matrix gene expression in addition to promoting leukocyte trafficking. (PMID:12847692)
  • monocyte chemotactic protein-3 uses a different mode of action from eotaxin (PMID:14733956)
  • data suggest that cyclic mechanical stretch of the uterine cervix by the presenting part of the fetus during labour may augment both IL-8 and MCP-3 production in the uterine cervix via AP-1 activation. (PMID:15194816)
  • These results suggest that oxLDL delivers its signal for MCP-3 expression via PPARgamma, which may be further related to the atherogenesis. (PMID:15381085)
  • A non-heparin-binding mutant CCL7 inhibits chemotactic potential of synovial fluid from patients with active rheumatoid arthritis and demonstrates the glycosaminoglycan-binding requirement for chemokine-driven inflammation in vivo (PMID:16002730)
  • CCR8 ligands are allotropic, binding to distinct sites within CCR8; the human immune system may have evolved to use CCL7 as a selective antagonist of viral chemokine activity at CCR8 but not those of the host ligand (PMID:17023422)
  • MCP-3 is critical for monocyte mobilization and suggests new roles for monocyte chemoattractants in leukocyte homeostasis. (PMID:17364026)
  • CCL7 synergizes with coproduced CXCL8 in peripheral blood monocyte migration. (PMID:18469140)
  • The expression of MCP-3 in laryngeal squamous cell carcinoma is much higher than in normal tissue. (PMID:18533557)
  • MMP-12 truncates and inactivates ELR+ CXC chemokines and generates CCL2, -7, -8, and -13 antagonists (PMID:18660381)
  • IL-12 p35, ICAM-1 and MCP-3 mRNAs are expressed in primary nasal epithelial cells. (PMID:19253530)
  • increased plasma levels in patients with amnestic mild cognitive impairment (PMID:19403065)
  • High MCP-3 is associated with macrophage/microglia infiltration in gliomas. (PMID:19424580)
  • higher expression in the genital mucosa than in the blood of HIV-1-infected women from Benin (PMID:19898927)
  • Elevated level of CCL7 is associated with invasion and migration of oral squamous cell carcinoma. (PMID:19937793)
  • Monocyte chemoattractant protein-3 (MCP-3) was highly expressed in patients with chronic periodontitis, particularly in those with progressive periodontal lesions. (PMID:20151806)
  • Cytoplasmic GR interacts with a subset of CCL7 mRNA through specific sequences and can regulate turnover rates, a novel posttranscriptional role for GR as an RNA-binding protein. (PMID:21148795)
  • Basal monocyte migration may be facilitated by the astrocyte-derived cytokine CCL7 whose production is rapidly increased by TNF-alpha and thus likely plays a critical role in initiating neuroinvasion by SIV/HIV. (PMID:21279498)
  • Data show that, for the small macrophages in COPD, increased transcript and protein levels for CCL2, CCL7, CCL13 and CCL22 with a more than 100-fold increase for CCL13 mRNA. (PMID:21327296)
  • we established, for the first time, a significant association of MCP3 variants with atopic asthma. (PMID:21388664)
  • MCP-3 is produced by human coronary artery smooth muscle cells and directly induces CASMC proliferation in vitro, suggesting a potential role for this chemokine in vascular pathology (PMID:21536288)
  • These results suggest that overexpression of CCL21 and CCL7 is associated with tumor metastasis and serves as a prognostic factor in patients with gastric cancer. (PMID:22468089)
  • Immunohistochemistry and real-time PCR analysis showed that CCL7 was expressed in normal colonic epithelium and the expression was higher in liver metastases compared to primary CRC. (PMID:22614322)
  • Systemic IFN-gamma triggered the secretion of C-C motif ligand chemokines CCL2 and CCL7 leading to the egress of early, myeloid-committed progenitors from the bone marrow mediated by their common receptor CCR2. (PMID:23762028)
  • Anticancer effect of desmethyl-lasiodiplodin is mediated, in part, by upregulation of apoptotic genes and downregulation of MCP-3. (PMID:23764760)
  • Our data demonstrate that the monocyte-specific chemokine CCL7 and its receptor CCR2 are expressed in tumour cells of RCC (PMID:24327013)
  • Overexpression of ISL1 in human mesnchymal stem cells promotes angiogenesis in vitro and in vivo through increasing secretion of MCP3 and other paracrine factors. (PMID:24578274)
  • Data indicate that different glycosaminoglycan-binding properties of monocyte chemoattractant protein-3/CCL7 and monocyte chemoattractant protein (MCP)-1/CCL2 suggest non-redundant functions and regulation. (PMID:24727473)
  • These results suggest that let-7d may suppress renal cell carcinoma growth, metastasis, and tumor macrophage infiltration at least partially through targeting COL3A1 and CCL7. (PMID:25193015)
  • Based on nasopharyngeal CCL7 gene expression in readily available Nasopharyngeal aspirate samples , we can discriminate between severity of disease in Respiratory syncytial virus infected infants. (PMID:25261323)
  • Periprostatic adipocytes drive prostate cancer progression in obesity via CCL7 secretion which stimulates CCR3 expressing tumor cells. (PMID:26756352)
  • Enzyme-linked immunosorbent assay was used to detect the levels of chemokine (C-X-C motif) ligand 12, chemokine (C-X-C motif) ligand 7, hepatocyte growth factor, and fibroblast growth factor 1 in the supernatants of the laryngeal squamous cell carcinoma and control cells. (PMID:28475003)
  • Higher expression of CCL7 receptor CCR2 (C-C chemokine receptor type 2) was associated with shorter overall survival of colorectal cancer patients. (PMID:30764543)
  • Via a novel post-translational modification called Fic-mediatedadenylylation/AMPylation. (PMID:31034889)
  • REVIEW: CCL7 Signaling in the Tumor Microenvironment (PMID:32060844)
  • The chemokine CCL7 regulates invadopodia maturation and MMP-9 mediated collagen degradation in liver-metastatic carcinoma cells. (PMID:32217106)
  • CCL7 recruits cDC1 to promote antitumor immunity and facilitate checkpoint immunotherapy to non-small cell lung cancer. (PMID:33257678)
  • Scoring cytokine storm by the levels of MCP-3 and IL-8 accurately distinguished COVID-19 patients with high mortality. (PMID:33318472)
  • The increased intrathecal expression of the monocyte-attracting chemokines CCL7 and CXCL12 in tick-borne encephalitis. (PMID:33876413)

Cross-species orthologs

3 orthologs

OrganismSymbolGene ID
danio_reriocxcl32b.1ENSDARG00000071499
mus_musculusCcl7ENSMUSG00000035373
rattus_norvegicusCcl7ENSRNOG00000000239

Paralogs (26): CX3CL1 (ENSG00000006210), CCL26 (ENSG00000006606), CCL22 (ENSG00000102962), CCL17 (ENSG00000102970), CCL24 (ENSG00000106178), CCL2 (ENSG00000108691), CCL8 (ENSG00000108700), 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 7P80098 (reviewed: P80098)

Alternative names: Monocyte chemoattractant protein 3, Monocyte chemotactic protein 3, NC28, Small-inducible cytokine A7

All UniProt accessions (3): P80098, A8MVH1, A8MX17

UniProt curated annotations — full annotation on UniProt →

Function. Chemotactic factor that plays an important role in immune regulation. Attracts monocytes, eosinophils, basophils, and T-cells to sites of inflammation or infection. Upon binding to various chemokine receptors including CCR1, CCR2, CCR3, and CCR5, facilitates immune cell migration by guiding them to infected tissues. Interacts with CCR2 to facilitate the release of monocytes from the bone marrow into the bloodstream, maintaining monocyte homeostasis. In turn, monocytes recruited to inflamed or injured tissues can differentiate into macrophages or dendritic cells, which are essential for immune defense and tissue repair. Through CCR1, contributes to macrophage polarization via NF-kappa-B activation which leads to the release of inflammatory factors. In the trigeminal ganglion neurons, activates ERK via CCR2 and CCR3 to enhance neuronal excitability, which contributes to the maintenance of trigeminal neuropathic pain. Additionally, modulates the early immune response in the skin, preventing pathogen dissemination while maintaining cutaneous immune control.

Subunit / interactions. Monomer. Interacts with TNFAIP6 (via Link domain).

Subcellular location. Secreted.

Post-translational modifications. O-glycosylated.

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

RefSeq proteins (1): NP_006264* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR000827Chemokine_CC_CSConserved_site
IPR001811Chemokine_IL8-like_domDomain
IPR036048Interleukin_8-like_sfHomologous_superfamily
IPR039809Chemokine_b/g/dFamily

Pfam: PF00048

UniProt features (20 total): strand 6, helix 3, mutagenesis site 3, sequence conflict 2, disulfide bond 2, signal peptide 1, chain 1, modified residue 1, glycosylation site 1

Structure

Experimental structures (PDB)

10 structures.

PDBMethodResolution (Å)
8FK6X-RAY DIFFRACTION1.74
7S58X-RAY DIFFRACTION1.82
7SCUX-RAY DIFFRACTION1.86
8FK8X-RAY DIFFRACTION1.96
8FJ3X-RAY DIFFRACTION2.07
7S59X-RAY DIFFRACTION2.39
4ZKCX-RAY DIFFRACTION3.15
8JPSELECTRON MICROSCOPY3.65
1BO0SOLUTION NMR
1NCVSOLUTION NMR

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-P80098-F185.930.61

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

Glycosylation sites (1): 29

Mutagenesis-validated functional residues (3):

PositionPhenotype
41decreases binding to link domain of tnfaip6; when associated with a-42 and a-45.
42decreases binding to link domain of tnfaip6; when associated with a-41 and a-45.
45decreases binding to link domain of tnfaip6; when associated with a-41 and a-42.

Function

Pathways and Gene Ontology

Reactome pathways

6 pathways

IDPathway
R-HSA-380108Chemokine receptors bind chemokines
R-HSA-162582Signal Transduction
R-HSA-372790Signaling by GPCR
R-HSA-373076Class A/1 (Rhodopsin-like receptors)
R-HSA-375276Peptide ligand-binding receptors
R-HSA-500792GPCR ligand binding

MSigDB gene sets: 319 (showing top): GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_UP, MODULE_92, GOBP_RESPONSE_TO_ETHANOL, GOBP_RESPONSE_TO_IONIZING_RADIATION, GOBP_ANTIMICROBIAL_HUMORAL_RESPONSE, GRUETZMANN_PANCREATIC_CANCER_DN, GOBP_REGULATION_OF_CELL_MORPHOGENESIS, GOBP_MYELOID_LEUKOCYTE_MIGRATION, GOBP_CELL_CHEMOTAXIS, GOBP_INFLAMMATORY_RESPONSE, GOBP_RESPONSE_TO_PEPTIDE, ENK_UV_RESPONSE_KERATINOCYTE_UP, MODULE_64, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_UP

GO Biological Process (20): monocyte chemotaxis (GO:0002548), intracellular calcium ion homeostasis (GO:0006874), chemotaxis (GO:0006935), inflammatory response (GO:0006954), cytoskeleton organization (GO:0007010), signal transduction (GO:0007165), cell-cell signaling (GO:0007267), regulation of cell shape (GO:0008360), response to gamma radiation (GO:0010332), positive regulation of cell migration (GO:0030335), eosinophil chemotaxis (GO:0048245), positive regulation of inflammatory response (GO:0050729), antimicrobial humoral immune response mediated by antimicrobial peptide (GO:0061844), chemokine-mediated signaling pathway (GO:0070098), cellular response to ethanol (GO:0071361), positive regulation of natural killer cell chemotaxis (GO:2000503), immune response (GO:0006955), canonical NF-kappaB signal transduction (GO:0007249), signal transduction involved in regulation of gene expression (GO:0023019), negative regulation of cytokine production involved in inflammatory response (GO:1900016)

GO Molecular Function (7): chemokine activity (GO:0008009), heparin binding (GO:0008201), CCR1 chemokine receptor binding (GO:0031726), CCR2 chemokine receptor binding (GO:0031727), CCR chemokine receptor binding (GO:0048020), cytokine activity (GO:0005125), protein binding (GO:0005515)

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

Reactome top-level categories

Rollup of top-5 pathways:

CategoryPathways
Peptide ligand-binding receptors1
Signal Transduction1
GPCR ligand binding1
Class A/1 (Rhodopsin-like receptors)1
Signaling by GPCR1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cell communication2
signaling2
chemokine receptor binding2
CCR chemokine receptor binding2
leukocyte chemotaxis1
mononuclear cell migration1
myeloid leukocyte migration1
intracellular monoatomic cation homeostasis1
calcium ion homeostasis1
response to chemical1
taxis1
defense response1
organelle organization1
cellular process1
regulation of cellular process1
cellular response to stimulus1
regulation of cell morphogenesis1
regulation of biological quality1
response to ionizing radiation1
cell migration1
regulation of cell migration1
positive regulation of cell motility1
granulocyte chemotaxis1
eosinophil migration1
inflammatory response1
positive regulation of defense response1
positive regulation of response to external stimulus1
regulation of inflammatory response1
antimicrobial humoral response1
G protein-coupled receptor signaling pathway1
cytokine-mediated signaling pathway1
cellular response to chemokine1
response to ethanol1
cellular response to alcohol1
natural killer cell chemotaxis1
positive regulation of lymphocyte chemotaxis1
regulation of natural killer cell chemotaxis1
immune system process1
response to stimulus1
intracellular signaling cassette1

Protein interactions and networks

STRING

1328 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
CCL7CCR2P41597997
CCL7CCR1P32246996
CCL7CCR3P51677996
CCL7CCR5P51681994
CCL7CXCL8P10145881
CCL7CX3CL1P78423869
CCL7ACKR2O00590869
CCL7A0A0J9YW77A0A0J9YW77865
CCL7CXCR2P25025853
CCL7CXCL1P09341847
CCL7CCL27Q9Y4X3831
CCL7CCL23P55773827
CCL7CXCL9Q07325820
CCL7CCL19Q99731800
CCL7TNFP01375795

IntAct

17 interactions, top by confidence:

ABTypeScore
CCL7psi-mi:“MI:0407”(direct interaction)0.620
UBQLN1CCL7psi-mi:“MI:0915”(physical association)0.560
CCL7UBQLN1psi-mi:“MI:0915”(physical association)0.560
CCL7UBQLN2psi-mi:“MI:0915”(physical association)0.560
CCL7XCL2psi-mi:“MI:0407”(direct interaction)0.440
CCL7CXCL6psi-mi:“MI:0407”(direct interaction)0.440
CCL7UBQLN2psi-mi:“MI:0915”(physical association)0.000
CCL7FEZ1psi-mi:“MI:0915”(physical association)0.000
CCL7TLE5psi-mi:“MI:0915”(physical association)0.000

BioGRID (17): UBQLN1 (Two-hybrid), FEZ1 (Two-hybrid), UBQLN2 (Two-hybrid), CCL7 (Co-crystal Structure), CCL7 (Two-hybrid), CCL7 (Reconstituted Complex), CCL7 (Biochemical Activity), CCL7 (Affinity Capture-Western), CXCL6 (Reconstituted Complex), XCL2 (Reconstituted Complex), CCL7 (Positive Genetic), CCL7 (Reconstituted Complex), CCL7 (Reconstituted Complex), CCL7 (Reconstituted Complex), CCL7 (Affinity Capture-RNA)

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

4 interactions.

AEffectBMechanism
CCL7up-regulatesCCR1binding
CCL7up-regulatesMacrophage_activation
IFNAR“up-regulates quantity by expression”CCL7
Macrophage_activation“up-regulates quantity”CCL7

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance11
Likely benign0
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

266 predictions. Top by Δscore:

VariantEffectΔscore
17:34271253:G:GTdonor_gain1.0000
17:34271253:G:Tdonor_gain1.0000
17:34271256:GCT:Gdonor_gain1.0000
17:34271264:G:GGdonor_gain1.0000
17:34271692:CACA:Cacceptor_loss1.0000
17:34271693:ACAG:Aacceptor_loss1.0000
17:34271694:CAGC:Cacceptor_loss1.0000
17:34271695:A:AGacceptor_gain1.0000
17:34271695:AGCTT:Aacceptor_loss1.0000
17:34271696:G:Aacceptor_loss1.0000
17:34271696:G:GAacceptor_gain1.0000
17:34270362:GCCAG:Gdonor_gain0.9900
17:34271259:GTAAT:Gdonor_gain0.9900
17:34271687:T:TAacceptor_gain0.9900
17:34271694:C:Gacceptor_gain0.9900
17:34271696:GC:Gacceptor_gain0.9900
17:34271696:GCT:Gacceptor_gain0.9900
17:34271696:GCTT:Gacceptor_gain0.9900
17:34271696:GCTTC:Gacceptor_gain0.9900
17:34270364:CAGGT:Cdonor_loss0.9800
17:34270365:AGGTA:Adonor_loss0.9800
17:34270368:TAAGG:Tdonor_loss0.9800
17:34271144:A:AGacceptor_gain0.9800
17:34271145:G:GGacceptor_gain0.9800
17:34271693:A:AGacceptor_gain0.9800
17:34271139:A:AGacceptor_gain0.9600
17:34271144:AGTTG:Aacceptor_gain0.9600
17:34271145:GTT:Gacceptor_gain0.9600
17:34271145:GTTGG:Gacceptor_gain0.9600
17:34271697:CTTCA:Cacceptor_gain0.9500

AlphaMissense

648 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
17:34271748:G:CW82C0.981
17:34271748:G:TW82C0.981
17:34271699:T:CF66S0.969
17:34271746:T:AW82R0.950
17:34271746:T:CW82R0.950
17:34271699:T:GF66C0.939
17:34271750:T:AV83D0.925
17:34271725:T:AC75S0.922
17:34271726:G:CC75S0.922
17:34271728:G:CA76P0.919
17:34271244:T:AC59S0.918
17:34271245:G:CC59S0.918
17:34271244:T:CC59R0.916
17:34271220:T:GY51D0.901
17:34271725:T:CC75R0.901
17:34271172:T:AC35S0.897
17:34271173:G:CC35S0.897
17:34271729:C:AA76D0.895
17:34271246:T:GC59W0.887
17:34271172:T:CC35R0.882
17:34271749:G:CV83L0.880
17:34271726:G:AC75Y0.877
17:34271727:T:GC75W0.877
17:34271260:T:AV64E0.875
17:34271197:T:CI43T0.863
17:34271245:G:AC59Y0.862
17:34271212:T:AL48Q0.860
17:34271698:T:CF66L0.850
17:34271700:C:AF66L0.850
17:34271700:C:GF66L0.850

dbSNP variants (sampled 300 via entrez): RS1000045109 (17:34269532 T>C), RS1001040406 (17:34272004 G>A), RS1001717241 (17:34268347 T>C), RS1002017945 (17:34270718 G>C,T), RS1002070512 (17:34270959 T>C), RS1002262353 (17:34272366 A>T), RS1002605020 (17:34272588 T>C,G), RS1002742914 (17:34268434 A>G), RS1004987699 (17:34269736 T>C,G), RS1005036493 (17:34269891 A>T), RS1005987629 (17:34268458 T>A), RS1006453974 (17:34268796 G>C), RS1006555520 (17:34268860 C>A,T), RS1006627446 (17:34268647 G>A,C,T), RS1008783706 (17:34270002 T>C)

Disease associations

OMIM: gene MIM:158106 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

7 associations (top):

StudyTraitp-value
GCST000879_61Crohn’s disease2.000000e-13
GCST001438_14Crohn’s disease4.000000e-08
GCST003854_13Gut microbiota (functional units)5.000000e-07
GCST003854_15Gut microbiota (functional units)6.000000e-07
GCST004131_81Inflammatory bowel disease1.000000e-12
GCST004132_101Crohn’s disease2.000000e-17
GCST006585_389Blood protein levels2.000000e-263

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0007874gut microbiome measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3217391 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
Lipopolysaccharidesaffects cotreatment, affects response to substance, increases expression, decreases reaction, increases secretion3
sodium arseniteaffects expression, increases expression2
nickel chloridedecreases secretion, affects cotreatment, increases secretion, decreases reaction, increases expression2
Atrazineaffects cotreatment, increases expression2
Calciumincreases uptake, decreases reaction2
Nickelincreases expression2
Tretinoinincreases expression, affects cotreatment2
ferric oxideincreases secretion1
propionaldehydeincreases expression1
bisphenol Aincreases expression1
2,5,2’,5’-tetrachlorobiphenyldecreases expression1
2,4,5,2’,4’,5’-hexachlorobiphenylincreases expression1
butyraldehydeincreases expression1
perfluorooctanoic aciddecreases expression, decreases secretion1
chromic oxideincreases secretion1
manganese chlorideincreases expression1
4-phenylenediamineincreases expression1
S-(1,2-dichlorovinyl)cysteineaffects response to substance, increases expression1
pentanalincreases expression1
acetovanillonedecreases reaction, increases expression1
perfluorooctane sulfonic aciddecreases secretion, decreases expression1
CGP 52608affects binding, increases reaction1
PCB 180affects expression1
lipopolysaccharide, E. coli O26-B6increases expression, decreases reaction1
diphenylarsinic acidincreases secretion1
2,2’,4,4’-tetrabromodiphenyl etherincreases expression1
abexinostatdecreases expression1
2’-hydroxyflavanoneincreases secretion, decreases reaction1
manganese ferriteincreases secretion1
Arsenic Trioxideaffects cotreatment, increases expression1

ChEMBL screening assays

2 unique, capped per target: 2 binding

Representative assays (with source publication via chembl_document):

Assay IDTypeDescriptionSource paper
CHEMBL3227327BindingInhibition of CCL7 in human THP1 cells assessed as reduction of cell migration at 50 uM after 3 hrsEvaluation of two cyclic di-peptides as inhibitors of CCL2 induced chemotaxis — Medchemcomm

Clinical trials (associated diseases)

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

  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Crohn disease, inflammatory bowel disease