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GeneBe

CCL8

C-C motif chemokine ligand 8, the group of Chemokine ligands

Basic information

Region (hg38): 17:34319434-34321402

Previous symbols: [ "SCYA8" ]

Links

ENSG00000108700NCBI:6355OMIM:602283HGNC:10635Uniprot:P80075AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CCL8 gene.

  • not provided (6 variants)
  • Inborn genetic diseases (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCL8 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
1
clinvar
3
clinvar
4
missense
3
clinvar
1
clinvar
4
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
1
1
non coding
0
Total 0 0 3 1 4

Variants in CCL8

This is a list of pathogenic ClinVar variants found in the CCL8 region.

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

Position Type Phenotype Significance ClinVar
17-34319523-C-T Benign (Jun 29, 2018)714731
17-34319525-G-C Likely benign (Jul 31, 2018)761573
17-34319542-C-T Benign (Jun 29, 2018)714732
17-34319545-C-T Inborn genetic diseases Uncertain significance (Dec 06, 2021)2396591
17-34319557-C-T Inborn genetic diseases Uncertain significance (Sep 22, 2022)2370879
17-34320279-C-T Benign (Jul 21, 2018)731252
17-34320280-A-T Inborn genetic diseases Uncertain significance (Jan 19, 2022)2341135
17-34320363-C-A Benign (Apr 10, 2018)780421
17-34320794-C-T Benign (Aug 28, 2018)718461

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
CCL8protein_codingprotein_codingENST00000394620 32367
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.04140.6721255280731256010.000291
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.1325052.70.9490.00000259642
Missense in Polyphen411.2360.35601153
Synonymous-2.333219.11.680.00000100185
Loss of Function0.49922.920.6851.23e-735

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0003530.000351
Ashkenazi Jewish0.000.00
East Asian0.00005440.0000544
Finnish0.000.00
European (Non-Finnish)0.0004940.000493
Middle Eastern0.00005440.0000544
South Asian0.00006540.0000653
Other0.0004920.000490

dbNSFP

Source: dbNSFP

Function
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. {ECO:0000269|PubMed:9558113}.;
Pathway
Chemokine signaling pathway - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human) (Consensus)

Recessive Scores

pRec
0.205

Intolerance Scores

loftool
0.541
rvis_EVS
0.7
rvis_percentile_EVS
85.42

Haploinsufficiency Scores

pHI
0.0461
hipred
N
hipred_score
0.112
ghis

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.650

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Gene ontology

Biological process
angiogenesis;monocyte chemotaxis;positive regulation of leukocyte migration;protein phosphorylation;calcium ion transport;cellular calcium ion homeostasis;exocytosis;chemotaxis;inflammatory response;signal transduction;G protein-coupled receptor signaling pathway;cell-cell signaling;response to virus;regulation of signaling receptor activity;neutrophil chemotaxis;positive regulation of GTPase activity;eosinophil chemotaxis;lymphocyte chemotaxis;chemokine-mediated signaling pathway;positive regulation of ERK1 and ERK2 cascade;negative regulation of leukocyte proliferation;cellular response to interferon-gamma;cellular response to interleukin-1;cellular response to tumor necrosis factor
Cellular component
extracellular space;cell
Molecular function
protein kinase activity;protein binding;chemokine activity;heparin binding;phospholipase activator activity;CCR2 chemokine receptor binding;CCR chemokine receptor binding