CCR4

C-C motif chemokine receptor 4, the group of C-C motif chemokine receptors|CD molecules

Basic information

Region (hg38): 3:32951643-32956349

Links

ENSG00000183813

∙ NCBI:1233 ∙ OMIM:604836 ∙ HGNC:1605 ∙ Uniprot:P51679 ∙ 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 CCR4 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCR4 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			16 clinvar	1 clinvar		17
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	16	1	0

Variants in CCR4

This is a list of pathogenic ClinVar variants found in the CCR4 region.

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

Position	Phenotype	Significance	ClinVar
3-32953465-A-G	not specified	Uncertain significance (Jan 10, 2023)	2470777
3-32953484-T-A	not specified	Uncertain significance (Jan 06, 2023)	3140089
3-32953626-G-T	not specified	Uncertain significance (Mar 07, 2024)	3140086
3-32953685-T-G	not specified	Uncertain significance (Jul 20, 2022)	2350713
3-32953813-A-G	not specified	Uncertain significance (Feb 28, 2024)	3140087
3-32953952-C-T	not specified	Uncertain significance (Sep 29, 2023)	3140088
3-32954046-T-G	not specified	Uncertain significance (Aug 11, 2022)	2246932
3-32954094-G-T	not specified	Uncertain significance (Jul 06, 2022)	2339733
3-32954110-C-A	not specified	Uncertain significance (Nov 18, 2022)	2327418
3-32954159-C-T	not specified	Uncertain significance (Jul 06, 2021)	2235300
3-32954167-G-A	not specified	Uncertain significance (May 25, 2022)	2217635
3-32954188-A-G	not specified	Uncertain significance (Dec 08, 2023)	3140090
3-32954200-A-G	not specified	Likely benign (Dec 01, 2022)	2222546
3-32954201-T-C	not specified	Uncertain significance (Oct 22, 2021)	2256545
3-32954401-G-A	not specified	Uncertain significance (Jan 23, 2023)	2466975
3-32954402-T-G	not specified	Uncertain significance (Jun 07, 2024)	3264641
3-32954407-T-G	not specified	Uncertain significance (Jan 24, 2024)	3140091
3-32954422-C-G	not specified	Uncertain significance (Jan 06, 2023)	2466387

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CCR4	protein_coding	protein_coding	ENST00000330953	1	4776

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0686	0.878	125738	0	10	125748	0.0000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.746	164	193	0.849	0.0000101	2365
Missense in Polyphen		42	79.078	0.53112		985
Synonymous	-1.74	101	81.1	1.25	0.00000457	728
Loss of Function	1.63	3	7.97	0.377	3.39e-7	117

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000615	0.0000615
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000528	0.0000527
Middle Eastern	0.00	0.00
South Asian	0.0000654	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: High affinity receptor for the C-C type chemokines CCL17/TARC, CCL22/MDC and CKLF isoform 1/CKLF1. The activity of this receptor is mediated by G(i) proteins which activate a phosphatidylinositol-calcium second messenger system. Can function as a chemoattractant homing receptor on circulating memory lymphocytes and as a coreceptor for some primary HIV-2 isolates. In the CNS, could mediate hippocampal-neuron survival. {ECO:0000269|PubMed:10466728, ECO:0000269|PubMed:10754297, ECO:0000269|PubMed:16137713, ECO:0000269|PubMed:9169480, ECO:0000269|PubMed:9430724}.;
Pathway: Kaposi,s sarcoma-associated herpesvirus infection - Homo sapiens (human);Chemokine signaling pathway - Homo sapiens (human);Viral carcinogenesis - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human);Peptide GPCRs;Chemokine signaling pathway;GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Signal Transduction;Chemokine receptors bind chemokines;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (i) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

pRec: 0.124

Intolerance Scores

loftool: 0.338
rvis_EVS: -0.29
rvis_percentile_EVS: 32.94

Haploinsufficiency Scores

pHI: 0.164
hipred: Y
hipred_score: 0.515
ghis: 0.520

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.674

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Ccr4
Phenotype: immune system phenotype; respiratory system phenotype; hematopoietic system phenotype;

Gene ontology

Biological process: neuron migration;tolerance induction;chemotaxis;inflammatory response;immune response;G protein-coupled receptor signaling pathway;positive regulation of cytosolic calcium ion concentration;response to radiation;response to bacterium;calcium-mediated signaling;response to antibiotic;homeostasis of number of cells;positive regulation of positive chemotaxis;cell chemotaxis;chemokine-mediated signaling pathway
Cellular component: plasma membrane;integral component of plasma membrane;external side of plasma membrane;neuronal cell body
Molecular function: chemokine receptor activity;protein binding;C-C chemokine receptor activity;chemokine binding;C-C chemokine binding