CCL8

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

Basic information

Region (hg38): 17:34319434-34321402

Previous symbols: [ "SCYA8" ]

Links

ENSG00000108700 ∙ NCBI:6355 ∙ OMIM:602283 ∙ HGNC:10635 ∙ Uniprot:P80075 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

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	3	4
missense			5		1	6
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	5	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)
17-34319525-G-C			Likely benign (Jul 31, 2018)
17-34319542-C-T			Benign (Jun 29, 2018)
17-34319545-C-T		not specified	Uncertain significance (Dec 06, 2021)
17-34319557-C-T		not specified	Uncertain significance (Sep 22, 2022)
17-34320279-C-T			Benign (Jul 21, 2018)
17-34320280-A-T		not specified	Uncertain significance (Jan 30, 2024)
17-34320283-C-G		not specified	Uncertain significance (Feb 28, 2024)
17-34320363-C-A			Benign (Apr 10, 2018)
17-34320794-C-T			Benign (Aug 28, 2018)
17-34320839-C-T		not specified	Uncertain significance (Sep 17, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CCL8	protein_coding	protein_coding	ENST00000394620	3	2367

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0414	0.672	125528	0	73	125601	0.000291

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.132	50	52.7	0.949	0.00000259	642
Missense in Polyphen		4	11.236	0.35601		153
Synonymous	-2.33	32	19.1	1.68	0.00000100	185
Loss of Function	0.499	2	2.92	0.685	1.23e-7	35

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000353	0.000351
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000494	0.000493
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000654	0.0000653
Other	0.000492	0.000490

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

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

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

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