CCR2

C-C motif chemokine receptor 2, the group of C-C motif chemokine receptors|CD molecules

Basic information

Region (hg38): 3:46353864-46360940

Previous symbols: [ "CMKBR2" ]

Links

ENSG00000121807 ∙ NCBI:729230 ∙ OMIM:601267 ∙ HGNC:1603 ∙ Uniprot:P41597 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Polycystic lung disease	AR	Allergy/Immunology/Infectious; Pulmonary	Individuals are at increased risk of recurrent respiratory infections, and have been reported to have adverse reactions to BCG, and awareness may allow early medical management related to pulmonary health as well as vaccine regimens	Allergy/Immunology/Infectious; Pulmonary	38157855

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CCR2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCR2 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				4	3	7
missense			15	1	2	18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	5	5

Variants in CCR2

This is a list of pathogenic ClinVar variants found in the CCR2 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-46357586-T-TAC		Cystic disease of lung	Pathogenic (Mar 12, 2024)
3-46357599-T-A		not specified	Uncertain significance (Feb 28, 2023)
3-46357602-T-A		not specified	Uncertain significance (May 23, 2023)
3-46357669-C-T		not specified	Uncertain significance (Nov 17, 2022)
3-46357683-G-T			Benign (Jul 31, 2018)
3-46357687-A-C		not specified	Uncertain significance (Aug 20, 2024)
3-46357709-T-G		Cystic disease of lung	Pathogenic (Mar 12, 2024)
3-46357716-C-T			Likely benign (Jul 17, 2018)
3-46357717-G-A		Susceptibility to HIV infection • CCR2-related disorder	Benign; protective (Oct 18, 2019)
3-46357883-T-G		Cystic disease of lung	Pathogenic (Mar 12, 2024)
3-46357894-G-A		not specified	Uncertain significance (Nov 11, 2024)
3-46357905-C-T			Likely benign (Dec 11, 2017)
3-46357924-C-T		not specified	Uncertain significance (Jun 28, 2022)
3-46357997-G-A		not specified	Uncertain significance (Oct 17, 2023)
3-46358075-A-G		not specified	Uncertain significance (May 01, 2024)
3-46358089-T-C		not specified	Uncertain significance (Oct 01, 2024)
3-46358114-G-A		not specified	Uncertain significance (Feb 27, 2024)
3-46358142-G-A		not specified	Uncertain significance (Sep 01, 2021)
3-46358155-G-A		not specified	Uncertain significance (Mar 20, 2023)
3-46358163-CCTGCCG-C		Cystic disease of lung	Pathogenic (Mar 12, 2024)
3-46358175-C-T		CCR2-related disorder	Likely benign (May 08, 2019)
3-46358182-G-A		not specified	Likely benign (Apr 13, 2022)
3-46358215-C-T		not specified	Uncertain significance (Mar 12, 2024)
3-46358219-G-T		not specified	Uncertain significance (Oct 01, 2024)
3-46358307-T-C		CCR2-related disorder	Benign (Oct 17, 2019)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CCR2	protein_coding	protein_coding	ENST00000292301	2	7195

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0234	0.919	125727	0	11	125738	0.0000437

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0339	195	196	0.993	0.0000111	2443
Missense in Polyphen		44	51.845	0.84868		719
Synonymous	-0.384	86	81.6	1.05	0.00000527	779
Loss of Function	1.63	4	9.37	0.427	5.75e-7	104

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000708	0.0000703
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Receptor for the CCL2, CCL7 and CCL13 chemokines (PubMed:23408426). Receptor for the beta-defensin DEFB106A/DEFB106B (PubMed:23938203). Transduces a signal by increasing intracellular calcium ion levels (By similarity). Upon CCL2 ligation, mediates chemotaxis and migration induction through the activation of the PI3K cascade, the small G protein Rac and lamellipodium protrusion (Probable). {ECO:0000250|UniProtKB:P51683, ECO:0000269|PubMed:23408426, ECO:0000269|PubMed:23938203, ECO:0000305|PubMed:15995708}.
• Pathway: Chemokine signaling pathway - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human);Peptide GPCRs;Spinal Cord Injury;Lung fibrosis;Chemokine signaling pathway;Interleukin-10 signaling;GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Signal Transduction;Antimicrobial peptides;Innate Immune System;Immune System;Chemokine receptors bind chemokines;Peptide ligand-binding receptors;Beta defensins;Class A/1 (Rhodopsin-like receptors);Defensins;GPCR ligand binding;G alpha (i) signalling events;GPCR downstream signalling (Consensus)

Intolerance Scores

• loftool: 0.390
• rvis_EVS: -0.09
• rvis_percentile_EVS: 46.92

Haploinsufficiency Scores

• pHI: 0.182
• hipred: N
• hipred_score: 0.219
• ghis: 0.494

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.121

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ccr2
• Phenotype: homeostasis/metabolism phenotype; cellular phenotype; growth/size/body region phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); liver/biliary system phenotype; respiratory system phenotype; immune system phenotype; skeleton phenotype; renal/urinary system phenotype; digestive/alimentary phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); vision/eye phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); pigmentation phenotype; neoplasm

Gene ontology

• Biological process: blood vessel remodeling;dendritic cell chemotaxis;monocyte chemotaxis;positive regulation of T-helper 1 type immune response;negative regulation of type 2 immune response;cellular calcium ion homeostasis;chemotaxis;inflammatory response;immune response;humoral immune response;cellular defense response;G protein-coupled receptor signaling pathway;negative regulation of adenylate cyclase activity;positive regulation of cytosolic calcium ion concentration;JAK-STAT cascade;response to wounding;regulation of vascular endothelial growth factor production;positive regulation of T cell chemotaxis;viral process;negative regulation of angiogenesis;cytokine-mediated signaling pathway;sensory perception of pain;calcium-mediated signaling;cellular homeostasis;hemopoiesis;positive regulation of interferon-gamma production;positive regulation of interleukin-2 production;T-helper 17 cell chemotaxis;positive regulation of tumor necrosis factor biosynthetic process;negative regulation of eosinophil degranulation;positive regulation of alpha-beta T cell proliferation;homeostasis of number of cells within a tissue;positive regulation of inflammatory response;positive regulation of T cell activation;cell chemotaxis;leukocyte adhesion to vascular endothelial cell;chemokine-mediated signaling pathway;positive regulation of monocyte chemotaxis;positive regulation of immune complex clearance by monocytes and macrophages;neutrophil clearance;positive regulation of cold-induced thermogenesis;positive regulation of leukocyte tethering or rolling;positive regulation of monocyte extravasation;positive regulation of CD8-positive, alpha-beta T cell extravasation;positive regulation of astrocyte chemotaxis;positive regulation of hematopoietic stem cell migration
• Cellular component: cytoplasm;cytosol;plasma membrane;integral component of plasma membrane;external side of plasma membrane;integral component of membrane;dendrite;neuronal cell body;perikaryon;perinuclear region of cytoplasm
• Molecular function: chemokine receptor activity;protein binding;C-C chemokine receptor activity;chemokine binding;C-C chemokine binding;CCR2 chemokine receptor binding;chemokine (C-C motif) ligand 2 binding;chemokine (C-C motif) ligand 12 binding;chemokine (C-C motif) ligand 7 binding;protein homodimerization activity