CCL8

protein-coding

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

Gene summary

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 N-terminal cysteine residues of the mature peptide. This chemokine is a member of the CC subfamily which is characterized by two adjacent cysteine residues. This cytokine displays chemotactic activity for monocytes, lymphocytes, basophils and eosinophils. By recruiting leukocytes to sites of inflammation this cytokine may contribute to tumor-associated leukocyte infiltration and to the antiviral state against HIV infection. [provided by RefSeq, Sep 2014]

Previous symbols:

SCYA8

MANE transcript

NM_005623.3

Inheritance

—

ClinVar variants

U:16B:6

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.69

Max pathogenic AF

—

Genomic locus

chr17:34,319,435-34,321,402

External References & Databases

Ensembl (ENSG00000108700)

Transcript & Mutation Effects

hg38 • Region Span ~2.0 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to CCL8 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 16

not providedTotal: 6

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_005623.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar	3 clinvar	4
missense			16 clinvar	1 clinvar	1 clinvar	18
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	16	2	4	22

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 2 of 2 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_005623.3	RefSeq	NP_005614.2	3	MANE Select
ENST00000394620.2	Ensembl	ENSP00000378118.1	3	MANE Select

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Chemokine signaling pathway - Homo sapiens (human)
Cytokine-cytokine receptor interaction - Homo sapiens (human)

Biological Process

angiogenesis
monocyte chemotaxis
positive regulation of leukocyte migration
protein phosphorylation
calcium ion transport

Molecular Function

protein kinase activity
protein binding
chemokine activity
heparin binding
phospholipase activator activity

Cellular Component

extracellular space
cell

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000394620
Coding exons: 3
Length: 2367
Individuals with no LoFs: 125528
Homozygous LoFs: 0
Heterozygous LoFs: 73
Defined: 125601
p: 0.000291

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.132	50	52.7	0.949	0.00000259	642
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000063	0.000062	rare
Latino/Admixed American	0.00029	0.00029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000054	0.000054	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00049	0.00049	rare
South Asian	0.000065	0.000065	rare
Other	0.00049	0.00049	rare

dbNSFP Gene Annotations

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}.;

Recessive Scores

pRec: 0.205

Intolerance Scores

LoFtool: 0.541
RVIS EVS: 0.7
RVIS percentile EVS: 85.42

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.650

Gene Damage Prediction

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