CCL11

gene
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Also known as eotaxinMGC22554

Summary

CCL11 (C-C motif chemokine ligand 11, HGNC:10610) is a protein-coding gene on chromosome 17q12, encoding Eotaxin (P51671). Chemokine that plays a central role in both allergic and non-allergic inflammatory reactions by inducing the migration of different leukocyte types including eosinophils, basophils, macrophages and dendritic cells.

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 the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CC subfamily, displays chemotactic activity for eosinophils, but not mononuclear cells or neutrophils. This eosinophil-specific chemokine is thought to be involved in eosinophilic inflammatory diseases such as atopic dermatitis, allergic rhinitis, asthma and parasitic infections.

Source: NCBI Gene 6356 — RefSeq curated summary.

At a glance

  • GWAS associations: 7
  • Clinical variants (ClinVar): 25 total
  • Phenotypes (HPO): 5
  • Druggable target: yes
  • MANE Select transcript: NM_002986

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:10610
Approved symbolCCL11
NameC-C motif chemokine ligand 11
Location17q12
Locus typegene with protein product
StatusApproved
Aliaseseotaxin, MGC22554
Ensembl geneENSG00000172156
Ensembl biotypeprotein_coding
OMIM601156
Entrez6356

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000305869

RefSeq mRNA: 1 — MANE Select: NM_002986 NM_002986

CCDS: CCDS11279

Canonical transcript exons

ENST00000305869 — 3 exons

ExonStartEnd
ENSE000011613983428709634287207
ENSE000011614023428758534288334
ENSE000027009473428574234285884

Expression profiles

Bgee: expression breadth ubiquitous, 128 present calls, max score 95.31.

FANTOM5 (CAGE): breadth broad, TPM avg 4.7116 / max 2520.8583, expressed in 277 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter IDTPM avgSamples expressed
1603094.7116277

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
pylorusUBERON:000116695.31gold quality
cardia of stomachUBERON:000116294.59gold quality
caecumUBERON:000115391.21gold quality
vermiform appendixUBERON:000115490.99gold quality
colonic epitheliumUBERON:000039790.64gold quality
muscle layer of sigmoid colonUBERON:003580589.89gold quality
heart right ventricleUBERON:000208086.73gold quality
fundus of stomachUBERON:000116086.57gold quality
sigmoid colonUBERON:000115986.08gold quality
duodenumUBERON:000211484.54gold quality
mucosa of transverse colonUBERON:000499184.47gold quality
rectumUBERON:000105283.15gold quality
large intestineUBERON:000005982.08gold quality
jejunal mucosaUBERON:000039981.97gold quality
colonUBERON:000115581.72gold quality
smooth muscle tissueUBERON:000113581.40gold quality
intestineUBERON:000016080.77gold quality
stomachUBERON:000094579.74gold quality
ileal mucosaUBERON:000033179.10gold quality
body of stomachUBERON:000116178.91gold quality
transverse colonUBERON:000115778.79gold quality
left ventricle myocardiumUBERON:000656678.68gold quality
small intestineUBERON:000210878.53gold quality
cardiac ventricleUBERON:000208277.80gold quality
heart left ventricleUBERON:000208477.70gold quality
metanephros cortexUBERON:001053377.63gold quality
jejunumUBERON:000211577.05gold quality
diaphragmUBERON:000110376.67gold quality
small intestine Peyer’s patchUBERON:000345476.46gold quality
myocardiumUBERON:000234976.16silver quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-CURD-46yes27.85
E-ANND-3no2.21

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AP1, BCL6, ESR1, NFKB1, NFKB, NKX2-1, NR3C1, PPARG, RELA, STAT1, STAT3, STAT6, TBX21

miRNA regulators (miRDB)

38 targeting CCL11, 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-MIR-5011-5P100.0083.465820
HSA-MIR-190A-3P100.0080.355520
HSA-MIR-188-3P100.0068.761240
HSA-MIR-1277-5P100.0073.955056
HSA-MIR-4283100.0066.422097
HSA-MIR-3924100.0072.092394
HSA-MIR-513B-5P99.9969.962150
HSA-MIR-33A-5P99.9968.621055
HSA-MIR-33B-5P99.9968.581062
HSA-MIR-3682-5P99.9367.971163
HSA-MIR-335-3P99.9373.364958
HSA-MIR-374A-5P99.9071.342923
HSA-MIR-374B-5P99.9069.982734
HSA-MIR-95-5P99.8972.173973
HSA-MIR-76599.8468.242442
HSA-MIR-11181-3P99.7566.382205
HSA-MIR-29B-2-5P99.6768.981726
HSA-MIR-5584-5P99.4968.222814
HSA-MIR-444199.4966.563216
HSA-MIR-582-5P99.4770.792635
HSA-MIR-766-5P99.4767.912225
HSA-MIR-751599.3168.221795
HSA-MIR-548AS-3P99.1269.122294
HSA-MIR-315498.9466.551455
HSA-MIR-5006-5P98.7966.921246
HSA-MIR-6894-5P98.7063.78809
HSA-MIR-1-5P98.7068.661017
HSA-MIR-216B-3P98.5567.191223
HSA-MIR-7113-5P97.8867.331735
HSA-MIR-7154-3P97.6565.02985

Literature-anchored findings (GeneRIF, showing 40)

  • Eotaxin/CCL11 may down-regulate production of the neutrophil chemoattractant IL-8/CXCL8 by vascular endothelial cells in vivo, acting as a negative regulator of neutrophil recruitment. (PMID:11884459)
  • Expression of eotaxin parallels eosinophil accumulation in the vesiculobullous stage of incontinentia pigmenti (PMID:11966763)
  • bronchial expression increased in exacerbated chronic bronchitis (PMID:11991282)
  • Histamine and serotonin stimulate eotaxin and augment the expression of eotaxin mRNA production by a human lung fibroblast cell line. (PMID:12065904)
  • Pretreatment or co-treatment with each of the eotaxins augmented PMAtate-induced superoxide generation, concentration-dependent degranulation of eosinophil peroxidase, & potentiation of A23187-induced degranulation. (PMID:12192108)
  • Intradermal injection of CCL11 induces recruitment of eosinophils, basophils, neutrophils, and macrophages as well as features of early- and late-phase allergic reactions in atopic and nonatopic volunteers. (PMID:12193745)
  • Eotaxin-1 protein and mRNA are synergistically up-regulated in airway fibroblasts from asthmatic and normal subjects by TGF-beta 1 and IL-13 in combination. (PMID:12370400)
  • Infiltrating eosinophils that express eotaxin and the changes of blood eotaxin levels during steroid therapy suggest that eotaxin may be associated with idiopathic eosinohilic esophagitis (PMID:12392390)
  • results suggest that expression of chemokine receptor 3(CCR3) and its ligand eotaxin/CCL11 plays a role in the recruitment and retention of CD30(+) malignant T cells to the skin (PMID:12393570)
  • eosinophil responses mediated by chemokines acting at CCR3 may be regulated by two distinct mechanisms: the antagonistic effects of CXCR3 ligands and the sequestration of CCL11 by CXCR3-expressing cells (PMID:12884299)
  • IL-5 and eotaxin are associated with acute exacerbation of asthma. (PMID:12915771)
  • Production of Eotaxin by eosinophils already within nasal polyps is likely an important mecahanism by which even more eosinophils may be recruited into the polyp tissue. (PMID:12916705)
  • CCL11 is an antimicrobial protein with bacteriocidal activity against E. coli and S. aureus. (PMID:12949249)
  • High local levels of eotaxin as present in the blister fluid correspond to the high state of activation of the infiltrated eosinophils in tissue eosinophilia in pemphigoid gestationis (PMID:14725564)
  • the two N-terminal motifs of eotaxin must cooperate with other regions to successfully bind and activate CCR3 (PMID:14733956)
  • Our results suggest that the polymorphisms of the eotaxin gene family are associated with the susceptibility of asthma and Eotaxin-3 might play the critical role for the recruitment of eosinophils and the maintenance of IgE levels. (PMID:15207712)
  • Asthmatics who were vaccinated with a single dose of influenza subunit vaccine showed elevated eotaxin seum levesls. (PMID:15223611)
  • Results show that human chondrocytes express eotaxin-1, that its expression is induced by treatment with interleukin-1beta and TNF-alpha, and suggest that it plays an important role in cartilage degradation in osteoarthritis. (PMID:15389872)
  • However, In the presence of TNF-alpha, melatonin promoted RANTES melatonin, respectively) expression in a dose dependent manner in A549 cells). (PMID:15537425)
  • Cigarette smoke may directly cause the release of IL-8 from HASMC, an effect enhanced by TNF-alpha which is overexpressed in COPD (PMID:16029496)
  • Single nucleotide polymorphisms at the CCL11 locus is an important determinant of serum total IgE levels among patients with asthma. (PMID:16461130)
  • Eotaxin (CCL11) is a CC chemokine, whose systemic levels might be associated with coronary artery disease (CAD) and genetic variants predispose to the myocardial infarction (MI). (PMID:16510147)
  • mast cell beta-tryptase selectively cleaves asthmatic airway smooth muscle (ASM)-derived eotaxin and RANTES and abrogates their chemotactic activities, thus providing an explanation for the eosinophil paucity in asthmatic ASM bundles (PMID:16517749)
  • Eotaxin may up-regulate the expression of VCAM-1 in vessel endothelium and promote adhesion and migration of eosinophils, as a result, to lead to the recurrence of nasal polyps. (PMID:16874958)
  • serum expression of eotaxin & IL-5 were significantly increased in patients with strongyloidiasis compared with controls; this rise suggests that selective mediators of the eosinophil can have a role in immunity against S. stercoralis in human infection (PMID:16879311)
  • A highly significant association of the newly studied (GAAGGA)(n) hexanucleotide repeat with asthma (p = 3x10(-6)), log(10)TsIgE (p = 0.006) and eotaxin levels (p = 0.004) was observed. (PMID:17220216)
  • The expression of Eotaxin-1 and -2 in nasal polyposis and polyps was dramatically higher than in controls. (PMID:17438849)
  • Corticosteroid treatment of nasal polyps reduced expression of CCL11. (PMID:17438850)
  • The Th2 cytokine IL-4 preferentially stimulated eotaxin expression. IL-4 activated the eotaxin promoter and STAT6 binding to it. (PMID:17541284)
  • A significant correlation exists between bronchoalveolar lavage concentration of CCL11 and eosinophils in veterans with sulfur mustard gas-induced pulmonary fibrosis. (PMID:17620002)
  • Eotaxin-1 protein levels in colorectal tumours were significantly (P < 0.0001) higher than in normal tissue (PMID:17672898)
  • There were significantly greater concentrations of the chemokines CCL3 and CCL11 in plasma of leprosy patients than in non-infected individuals (PMID:17827376)
  • This study finding provide a strong evidence that Eotaxin 1 Thr23Thr homozygote has a protective effect on asthma and significantly decreases plasma Eotaxin 1 concentrations in asthmatics in Taiwan. (PMID:17845580)
  • Developing lung expresses the eotaxins and functional CCR3 receptor. (PMID:18055844)
  • Results suggest that dexamethasone, depending on the exposure duration, can either inhibit or enhance IL-4-induced expression and production of eotaxin in lung fibroblasts. (PMID:18203973)
  • the eotaxin gene may play a crucial role in the development of extrinsic Atopic Dermatitis, probably with other genetic factors. (PMID:18312459)
  • This study raises the hypothesis that high serum levels of eotaxin predict less radiographic progression in early RA patients. (PMID:18312691)
  • Gram-negative bacteria inhibited the release of eotaxin-1 from human airway smooth muscle cells. (PMID:18380907)
  • except for IL-6 and eotaxin, CLL B-cells and their normal counterparts produce and secrete similar amounts of cytokines and cytokine receptors in vitro. (PMID:18398743)
  • There are elevated concentrations of the chemokines MDC, eotaxin, I-TAC, and MCP-1 in malignant pleural effusions. (PMID:18515987)

Cross-species orthologs

3 orthologs

OrganismSymbolGene ID
danio_reriocxcl32b.1ENSDARG00000071499
mus_musculusCcl11ENSMUSG00000020676
rattus_norvegicusCcl11ENSRNOG00000007335

Paralogs (26): CX3CL1 (ENSG00000006210), CCL26 (ENSG00000006606), CCL22 (ENSG00000102962), CCL17 (ENSG00000102970), CCL24 (ENSG00000106178), CCL7 (ENSG00000108688), CCL2 (ENSG00000108691), CCL8 (ENSG00000108700), CCL1 (ENSG00000108702), CCL20 (ENSG00000115009), CCL25 (ENSG00000131142), CCL21 (ENSG00000137077), XCL1 (ENSG00000143184), XCL2 (ENSG00000143185), 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

EotaxinP51671 (reviewed: P51671)

Alternative names: C-C motif chemokine 11, Eosinophil chemotactic protein, Small-inducible cytokine A11

All UniProt accessions (2): P51671, Q6I9T4

UniProt curated annotations — full annotation on UniProt →

Function. Chemokine that plays a central role in both allergic and non-allergic inflammatory reactions by inducing the migration of different leukocyte types including eosinophils, basophils, macrophages and dendritic cells. Exerts its effects primarily by binding to the CCR3 receptor. Induces also chemotaxis of endothelial cells and promotes angiogenesis by activating the PI3K/Akt pathway.

Subcellular location. Secreted.

Post-translational modifications. O-linked glycan consists of a Gal-GalNAc disaccharide which is modified with up to 2 sialic acid residues.

Induction. Induced by TNF, IL1A/interleukin-1 alpha and IFNG/IFN-gamma.

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

RefSeq proteins (1): NP_002977* (*=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 (19 total): strand 7, sequence variant 5, helix 2, disulfide bond 2, signal peptide 1, chain 1, glycosylation site 1

Structure

Experimental structures (PDB)

4 structures.

PDBMethodResolution (Å)
7SCSX-RAY DIFFRACTION1.51
1EOTSOLUTION NMR
2EOTSOLUTION NMR
2MPMSOLUTION NMR

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-P51671-F187.650.64

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): 32–57, 33–73

Glycosylation sites (1): 94

Function

Pathways and Gene Ontology

Reactome pathways

10 pathways

IDPathway
R-HSA-380108Chemokine receptors bind chemokines
R-HSA-6785807Interleukin-4 and Interleukin-13 signaling
R-HSA-1280215Cytokine Signaling in Immune system
R-HSA-162582Signal Transduction
R-HSA-168256Immune System
R-HSA-372790Signaling by GPCR
R-HSA-373076Class A/1 (Rhodopsin-like receptors)
R-HSA-375276Peptide ligand-binding receptors
R-HSA-449147Signaling by Interleukins
R-HSA-500792GPCR ligand binding

MSigDB gene sets: 264 (showing top): GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, MODULE_92, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT, GOBP_MAMMARY_GLAND_MORPHOGENESIS, GOBP_REGULATION_OF_PROTEIN_POLYMERIZATION, GOBP_ANTIMICROBIAL_HUMORAL_RESPONSE, GOBP_COGNITION, GOBP_GLAND_MORPHOGENESIS, GOBP_BEHAVIOR, GOBP_REGULATION_OF_CELL_MORPHOGENESIS, GOBP_MYELOID_LEUKOCYTE_MIGRATION, GOBP_CELL_CHEMOTAXIS, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, MODULE_255

GO Biological Process (29): positive regulation of endothelial cell proliferation (GO:0001938), chronic inflammatory response (GO:0002544), mast cell chemotaxis (GO:0002551), protein phosphorylation (GO:0006468), intracellular calcium ion homeostasis (GO:0006874), chemotaxis (GO:0006935), inflammatory response (GO:0006954), cytoskeleton organization (GO:0007010), actin filament organization (GO:0007015), cell adhesion (GO:0007155), signal transduction (GO:0007165), learning or memory (GO:0007611), regulation of cell shape (GO:0008360), response to radiation (GO:0009314), response to virus (GO:0009615), positive regulation of cell migration (GO:0030335), positive regulation of actin filament polymerization (GO:0030838), response to interleukin-13 (GO:0035962), positive regulation of angiogenesis (GO:0045766), eosinophil chemotaxis (GO:0048245), negative regulation of neurogenesis (GO:0050768), cell chemotaxis (GO:0060326), branching involved in mammary gland duct morphogenesis (GO:0060444), mammary duct terminal end bud growth (GO:0060763), antimicrobial humoral immune response mediated by antimicrobial peptide (GO:0061844), chemokine-mediated signaling pathway (GO:0070098), ERK1 and ERK2 cascade (GO:0070371), response to interleukin-4 (GO:0070670), immune response (GO:0006955)

GO Molecular Function (7): chemokine activity (GO:0008009), CCR3 chemokine receptor binding (GO:0031728), protein dimerization activity (GO:0046983), receptor ligand activity (GO:0048018), 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-8 pathways:

CategoryPathways
Peptide ligand-binding receptors1
Signaling by Interleukins1
Immune System1
Signal Transduction1
GPCR ligand binding1
Class A/1 (Rhodopsin-like receptors)1
Cytokine Signaling in Immune system1
Signaling by GPCR1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular process2
chemokine receptor binding2
endothelial cell proliferation1
regulation of endothelial cell proliferation1
positive regulation of epithelial cell proliferation1
inflammatory response1
leukocyte chemotaxis1
mast cell migration1
phosphorylation1
protein modification process1
intracellular monoatomic cation homeostasis1
calcium ion homeostasis1
response to chemical1
taxis1
defense response1
organelle organization1
actin cytoskeleton organization1
supramolecular fiber organization1
cell communication1
signaling1
regulation of cellular process1
cellular response to stimulus1
behavior1
cognition1
regulation of cell morphogenesis1
regulation of biological quality1
response to abiotic stimulus1
response to other organism1
cell migration1
regulation of cell migration1
positive regulation of cell motility1
actin filament polymerization1
regulation of actin filament polymerization1
positive regulation of protein polymerization1
positive regulation of cytoskeleton organization1
positive regulation of supramolecular fiber organization1
response to cytokine1
angiogenesis1
regulation of angiogenesis1
positive regulation of vasculature development1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

38 interactions, top by confidence:

ABTypeScore
DPP4CCL11psi-mi:“MI:0407”(direct interaction)0.620
CCL11DPP4psi-mi:“MI:0194”(cleavage reaction)0.620
CCL11CCL5psi-mi:“MI:0407”(direct interaction)0.560
CCL11PF4psi-mi:“MI:0407”(direct interaction)0.560
CCL11CXCL12psi-mi:“MI:0407”(direct interaction)0.560
CCL5CCL11psi-mi:“MI:0407”(direct interaction)0.560
PF4CCL11psi-mi:“MI:0407”(direct interaction)0.560
CCL11CCR3psi-mi:“MI:0407”(direct interaction)0.440
CCL11CCL8psi-mi:“MI:0407”(direct interaction)0.440
CCL2CCL11psi-mi:“MI:0407”(direct interaction)0.440
CCL13CCL11psi-mi:“MI:0407”(direct interaction)0.440
CCL14CCL11psi-mi:“MI:0407”(direct interaction)0.440
CCL28CCL11psi-mi:“MI:0407”(direct interaction)0.440
XCL1CCL11psi-mi:“MI:0407”(direct interaction)0.440
CXCL1CCL11psi-mi:“MI:0407”(direct interaction)0.440
CXCL2CCL11psi-mi:“MI:0407”(direct interaction)0.440
CXCL3CCL11psi-mi:“MI:0407”(direct interaction)0.440
CXCL5CCL11psi-mi:“MI:0407”(direct interaction)0.440
CXCL6CCL11psi-mi:“MI:0407”(direct interaction)0.440
CXCL9CCL11psi-mi:“MI:0407”(direct interaction)0.440
CXCL10CCL11psi-mi:“MI:0407”(direct interaction)0.440
CXCL11CCL11psi-mi:“MI:0407”(direct interaction)0.440
CXCL14CCL11psi-mi:“MI:0407”(direct interaction)0.440
CCL11CCL18psi-mi:“MI:0407”(direct interaction)0.440
CCL11CCL26psi-mi:“MI:0407”(direct interaction)0.440
CCL11CCL27psi-mi:“MI:0407”(direct interaction)0.440
CCL11PF4V1psi-mi:“MI:0407”(direct interaction)0.440
CCL11CXCL10psi-mi:“MI:0407”(direct interaction)0.440

BioGRID (32): CCL11 (Proximity Label-MS), HADHB (Proximity Label-MS), CCL18 (Reconstituted Complex), CCL26 (Reconstituted Complex), CCL27 (Reconstituted Complex), CCL28 (Reconstituted Complex), CCL8 (Reconstituted Complex), CXCL10 (Reconstituted Complex), CXCL12 (Reconstituted Complex), PF4V1 (Reconstituted Complex), CCL11 (Reconstituted Complex), CCL11 (Reconstituted Complex), CCL11 (Reconstituted Complex), CCL11 (Reconstituted Complex), CCL11 (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

3 interactions.

AEffectBMechanism
CCL11up-regulatesCCR3binding
NfKb-p65/p50“up-regulates quantity by expression”CCL11“transcriptional regulation”
CCL11“up-regulates activity”CCR3binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 28 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:

PathwayPartnersFoldFDR
Chemokine receptors bind chemokines17138.4×2e-33
Interleukin-10 signaling550.7×6e-07
G alpha (i) signalling events1525.4×2e-17
Class A/1 (Rhodopsin-like receptors)722.6×3e-07
Peptide ligand-binding receptors722.6×3e-07
GPCR ligand binding719.5×6e-07
Signaling by GPCR712.2×1e-05
GPCR downstream signalling611.3×1e-04

GO biological processes:

GO termPartnersFoldFDR
chemokine-mediated signaling pathway14162.0×5e-27
eosinophil chemotaxis5130.8×7e-09
neutrophil chemotaxis10102.0×7e-17
chemotaxis1887.4×4e-30
antimicrobial humoral immune response mediated by antimicrobial peptide1586.8×6e-25
cell chemotaxis746.3×4e-09
cellular response to lipopolysaccharide1035.0×4e-12
cell-cell signaling1434.8×2e-17

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance17
Likely benign1
Benign2

Top pathogenic / likely-pathogenic (0)

SpliceAI

135 predictions. Top by Δscore:

VariantEffectΔscore
17:34287087:A:AGacceptor_gain1.0000
17:34287088:A:Gacceptor_gain1.0000
17:34287089:A:AGacceptor_gain1.0000
17:34287094:A:AGacceptor_gain1.0000
17:34287095:G:GGacceptor_gain1.0000
17:34287095:GCTT:Gacceptor_gain1.0000
17:34287095:GCTTC:Gacceptor_gain1.0000
17:34287203:GTGAT:Gdonor_gain1.0000
17:34287205:GAT:Gdonor_gain1.0000
17:34287208:G:GGdonor_gain1.0000
17:34287580:CACA:Cacceptor_loss1.0000
17:34287581:ACAG:Aacceptor_loss1.0000
17:34287582:CA:Cacceptor_loss1.0000
17:34287583:A:AGacceptor_gain1.0000
17:34287583:A:Cacceptor_loss1.0000
17:34287584:G:GGacceptor_gain1.0000
17:34287090:A:Gacceptor_gain0.9900
17:34287091:T:Gacceptor_gain0.9900
17:34287094:A:Gacceptor_loss0.9900
17:34287095:G:GTacceptor_loss0.9900
17:34287095:GC:Gacceptor_gain0.9900
17:34287095:GCT:Gacceptor_gain0.9900
17:34287204:TGAT:Tdonor_gain0.9900
17:34287205:GATG:Gdonor_gain0.9900
17:34287206:AT:Adonor_gain0.9900
17:34287207:TGTA:Tdonor_loss0.9900
17:34287209:TAA:Tdonor_loss0.9900
17:34287210:A:AGdonor_loss0.9900
17:34287212:G:GGdonor_gain0.9900
17:34287584:GC:Gacceptor_gain0.9900

AlphaMissense

626 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
17:34287636:G:CW80C0.980
17:34287636:G:TW80C0.980
17:34287587:T:CF64S0.971
17:34287587:T:GF64C0.947
17:34287634:T:AW80R0.947
17:34287634:T:CW80R0.947
17:34287188:T:CC57R0.900
17:34287188:T:AC57S0.893
17:34287189:G:CC57S0.893
17:34287613:T:AC73S0.892
17:34287614:G:CC73S0.892
17:34287141:T:CI41T0.878
17:34287153:G:CR45P0.859
17:34287586:T:CF64L0.858
17:34287588:C:AF64L0.858
17:34287588:C:GF64L0.858
17:34287616:G:CA74P0.858
17:34287593:C:TT66I0.857
17:34287646:T:CS84P0.845
17:34287204:T:AV62E0.844
17:34287613:T:CC73R0.843
17:34287637:G:CV81L0.839
17:34287637:G:TV81L0.839
17:34287614:G:AC73Y0.832
17:34287615:T:GC73W0.830
17:34287164:T:GY49D0.824
17:34287116:T:AC33S0.820
17:34287117:G:CC33S0.820
17:34287116:T:CC33R0.816
17:34287635:G:TW80L0.807

dbSNP variants (sampled 300 via entrez): RS1000218287 (17:34286524 C>T), RS1000320152 (17:34286827 A>G), RS1000554042 (17:34287931 C>A,G,T), RS1000806328 (17:34284845 T>C), RS1000875319 (17:34286190 G>C), RS1002938109 (17:34287960 C>A,T), RS1003275003 (17:34286427 T>A,C), RS1004025888 (17:34284252 T>A), RS1004232441 (17:34284576 G>T), RS1005020240 (17:34288226 A>G), RS1005027626 (17:34285977 C>A,G), RS1005421490 (17:34286494 C>A), RS1006870409 (17:34288669 C>A), RS1007023972 (17:34285747 G>A), RS1007079531 (17:34286013 A>C)

Disease associations

OMIM: gene MIM:601156 | disease phenotypes: MIM:609423, MIM:600807

GenCC curated gene-disease

Mondo (2): susceptibility to HIV infection (MONDO:0004951), inherited susceptibility to asthma (MONDO:0010940)

Orphanet (0):

HPO phenotypes

5 total (5 of 5 shown, HPO-id order):

HPOTerm
HP:0000006Autosomal dominant inheritance
HP:0001426Non-Mendelian inheritance
HP:0002099Asthma
HP:0032933Airway hyperresponsiveness
HP:4000007Bronchoconstriction

GWAS associations

7 associations (top):

StudyTraitp-value
GCST001438_14Crohn’s disease4.000000e-08
GCST001725_28Inflammatory bowel disease1.000000e-26
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
GCST011742_36Triglyceride levels in HIV infection9.000000e-06

EFO canonical traits (2, from GWAS)

EFO IDTrait name
EFO:0007874gut microbiome measurement
EFO:0004530triglyceride measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3286077 (SINGLE PROTEIN)

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

PharmGKB clinical annotations

1 annotations.

VariantTypeLevelDrugsPhenotypes
rs1129844Toxicity3methadoneOpioid-Related Disorders

PharmGKB variants

2 variants.

VariantGenesLevelScore#Clin annotsDrugs
rs1129844CCL1132.751methadone
rs17809012CCL110.000

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
Particulate Matterdecreases reaction, increases expression, affects cotreatment, decreases expression4
Lipopolysaccharidesdecreases reaction, increases expression, increases secretion3
Tetradecanoylphorbol Acetateaffects cotreatment, decreases reaction, increases expression, increases secretion3
bisphenol Adecreases expression2
hydroxyhydroquinoneincreases expression, affects expression2
nickel sulfateaffects expression, decreases expression2
Calcimycinaffects abundance, affects chemical synthesis, increases reaction, affects cotreatment, decreases reaction (+1 more)2
Resveratrolaffects cotreatment, decreases expression, decreases reaction, increases expression, increases secretion (+1 more)2
Troglitazoneaffects reaction, decreases reaction, increases expression, decreases activity2
Acetylcysteinedecreases reaction, increases expression, decreases expression2
Vehicle Emissionsdecreases reaction, increases expression, affects cotreatment, decreases expression2
Dustaffects expression, increases expression2
Methotrexatedecreases expression2
Dronabinoldecreases expression2
Ionomycinincreases secretion, decreases reaction, increases expression, affects cotreatment2
coagulin-Ldecreases reaction, increases expression1
quinoneincreases expression1
fulvic acidaffects cotreatment, decreases reaction, increases expression1
2,5,2’,5’-tetrachlorobiphenyldecreases expression, increases expression1
trichostatin Aaffects expression, decreases reaction1
sodium bichromateaffects cotreatment, decreases reaction, increases secretion1
zinc chlorideincreases expression1
3-chlorophenolincreases expression1
hydroquinoneincreases expression1
catecholincreases expression1
3,3’,4,5’-tetrahydroxystilbenedecreases expression, decreases secretion1
acetovanillonedecreases reaction, increases expression1
prolinedithiocarbamatedecreases reaction, increases expression1
poractant alfaincreases expression1
2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-onedecreases reaction, increases expression1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay IDTypeDescriptionSource paper
CHEMBL3293901BindingBinding affinity to human recombinant CCL11 by surface plasmon resonance assaySynthesis and biological evaluation of a unique heparin mimetic hexasaccharide for structure-activity relationship studies. — J Med Chem

Clinical trials (associated diseases)

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