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GeneBe

CCL18

C-C motif chemokine ligand 18, the group of Chemokine ligands

Basic information

Region (hg38): 17:36064271-36072032

Previous symbols: [ "SCYA18" ]

Links

ENSG00000275385NCBI:6362OMIM:603757HGNC:10616Uniprot:P55774AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CCL18 gene.

  • Inborn genetic diseases (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCL18 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
0
missense
1
clinvar
1
clinvar
2
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 1 1 0

Variants in CCL18

This is a list of pathogenic ClinVar variants found in the CCL18 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
17-36070985-G-A Inborn genetic diseases Likely benign (Jan 26, 2023)2473711
17-36070991-A-G Inborn genetic diseases Uncertain significance (Jun 10, 2022)2388090

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function
FUNCTION: Chemotactic factor that attracts lymphocytes but not monocytes or granulocytes. May be involved in B-cell migration into B-cell follicles in lymph nodes. Attracts naive T-lymphocytes toward dendritic cells and activated macrophages in lymph nodes, has chemotactic activity for naive T-cells, CD4+ and CD8+ T-cells and thus may play a role in both humoral and cell-mediated immunity responses. {ECO:0000269|PubMed:11745396, ECO:0000269|PubMed:11978786}.;
Pathway
Chemokine signaling pathway - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human) (Consensus)

Recessive Scores

pRec
0.281

Intolerance Scores

loftool
0.720
rvis_EVS
0.19
rvis_percentile_EVS
66.57

Haploinsufficiency Scores

pHI
0.0670
hipred
N
hipred_score
0.112
ghis

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
S
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.370

Gene Damage Prediction

AllRecessiveDominant
MendelianLowLowLow
Primary ImmunodeficiencyMediumLowMedium
CancerLowLowLow

Gene ontology

Biological process
monocyte chemotaxis;chemotaxis;inflammatory response;immune response;cell communication;signal transduction;G protein-coupled receptor signaling pathway;cell-cell signaling;regulation of signaling receptor activity;neutrophil chemotaxis;positive regulation of GTPase activity;lymphocyte chemotaxis;positive regulation of inflammatory response;chemokine-mediated signaling pathway;positive regulation of ERK1 and ERK2 cascade;cellular response to interferon-gamma;cellular response to interleukin-1;cellular response to tumor necrosis factor
Cellular component
extracellular space
Molecular function
protein binding;chemokine activity;CCR chemokine receptor binding