CCR3

C-C motif chemokine receptor 3, the group of CD molecules|C-C motif chemokine receptors

Basic information

Region (hg38): 3:46130889-46266706

Previous symbols: [ "CMKBR3" ]

Links

ENSG00000183625 ∙ NCBI:1232 ∙ OMIM:601268 ∙ HGNC:1604 ∙ Uniprot:P51677 ∙ 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 CCR3 gene.

• Inborn genetic diseases (13 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCR3 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			12	1		13
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	12	1	0

Variants in CCR3

This is a list of pathogenic ClinVar variants found in the CCR3 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-46203247-C-T			Benign (Jul 29, 2018)
3-46203295-C-A		not specified	Uncertain significance (Jan 10, 2023)
3-46203300-C-T			Benign (Apr 24, 2018)
3-46203318-G-A			Likely benign (Apr 09, 2018)
3-46203359-G-C		not specified	Uncertain significance (May 23, 2023)
3-46203376-C-T		not specified	Uncertain significance (Oct 06, 2021)
3-46203411-G-A			Benign (Aug 21, 2018)
3-46203443-A-G			Benign (Jul 29, 2018)
3-46203446-C-T			Likely benign (Dec 31, 2019)
3-46203456-C-T			Likely benign (Oct 01, 2022)
3-46203474-G-T		not specified	Uncertain significance (Nov 14, 2023)
3-46203572-A-C		not specified	Uncertain significance (Nov 12, 2021)
3-46203640-A-G		not specified	Uncertain significance (Mar 28, 2023)
3-46203761-G-A		not specified	Uncertain significance (Dec 05, 2022)
3-46203770-T-A		not specified	Likely benign (Jun 13, 2023)
3-46203838-G-A			Likely benign (Jun 29, 2018)
3-46203839-C-A		not specified	Uncertain significance (Dec 27, 2023)
3-46203876-G-A			Likely benign (Jul 20, 2018)
3-46203933-C-T			Benign (Aug 21, 2018)
3-46204015-A-G		not specified	Uncertain significance (Oct 04, 2022)
3-46204057-G-A		not specified	Uncertain significance (Sep 27, 2022)
3-46204142-C-T		not specified	Uncertain significance (Dec 17, 2023)
3-46204152-C-G			Benign/Likely benign (Oct 01, 2022)
3-46204205-G-T		not specified	Uncertain significance (Jul 13, 2021)
3-46204209-T-G		not specified	Uncertain significance (Nov 28, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CCR3	protein_coding	protein_coding	ENST00000545097	2	103102

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000126	0.643	125670	0	34	125704	0.000135

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0964	205	209	0.981	0.0000111	2446
Missense in Polyphen		68	66.013	1.0301		856
Synonymous	-0.808	98	88.3	1.11	0.00000504	786
Loss of Function	0.777	7	9.60	0.729	5.55e-7	120

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000445	0.000445
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.000124	0.000123
Middle Eastern	0.000109	0.000109
South Asian	0.000196	0.000196
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Receptor for a C-C type chemokine. Binds to eotaxin, eotaxin-3, MCP-3, MCP-4, RANTES and MIP-1 delta. Subsequently transduces a signal by increasing the intracellular calcium ions level. Alternative coreceptor with CD4 for HIV-1 infection.
• 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;IL-3 Signaling Pathway;IL1 and megakaryocytes in obesity;Lung fibrosis;Chemokine signaling pathway;GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Signal Transduction;ion channels and their functional role in vascular endothelium;ccr3 signaling in eosinophils;activation of csk by camp-dependent protein kinase inhibits signaling through the t cell receptor;chrebp regulation by carbohydrates and camp;role of -arrestins in the activation and targeting of map kinases;activation of camp-dependent protein kinase pka;Chemokine receptors bind chemokines;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);roles of arrestin dependent recruitment of src kinases in gpcr signaling;GPCR ligand binding;-arrestins in gpcr desensitization;G alpha (i) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.347

Intolerance Scores

• loftool: 0.808
• rvis_EVS: 0.89
• rvis_percentile_EVS: 89.14

Haploinsufficiency Scores

• pHI: 0.0855
• hipred: N
• hipred_score: 0.112
• ghis: 0.384

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.432

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ccr3
• Phenotype: immune system phenotype; hematopoietic system phenotype; respiratory system phenotype; cellular phenotype; homeostasis/metabolism phenotype

Gene ontology

• Biological process: positive regulation of endothelial cell proliferation;chemotaxis;inflammatory response;immune response;cellular defense response;cell adhesion;G protein-coupled receptor signaling pathway;adenylate cyclase-modulating G protein-coupled receptor signaling pathway;positive regulation of cytosolic calcium ion concentration;viral process;calcium-mediated signaling;positive regulation of angiogenesis;cell chemotaxis;chemokine-mediated signaling pathway
• Cellular component: cytoplasm;plasma membrane;integral component of plasma membrane;external side of plasma membrane
• Molecular function: chemokine receptor activity;protein binding;C-C chemokine receptor activity;chemokine binding;C-C chemokine binding