Information on CCL2
Basic details
Alt. symbols: SCYA2 | MCP1 | MCP-1 | MCAF | SMC-CF | GDCF-2 | HC11 | MGC9434
Approved name: C-C motif chemokine ligand 2
Alt. names: small inducible cytokine A2 (monocyte chemotactic protein 1, homologous to mouse Sig-je), chemokine (C-C motif) ligand 2 | monocyte chemotactic protein 1, homologous to mouse Sig-je, monocyte chemoattractant protein-1, monocyte chemotactic and activating factor, monocyte secretory protein JE, small inducible cytokine subfamily A (Cys-Cys), member 2
Location: 17q12: 34255274 - 34257208 (+)
Gene type: protein_coding, 3 transcripts.
Scores: LoFtool: | pLI: 0.66768600 | LOEUF: 0.997
Normal function
CCL2, also referred to as monocyte chemoattractant protein 1 (MCP1), is a small cytokine that acts as a ligand for C-C chemokine receptor CCR2 (PMID:9837883, 10587439, 10529171). Through binding and activation of CCR2, CCL2 signals and induces a strong chemotactic response and mobilization of intracellular calcium ions (PMID:9837883, 10587439). As a result, CCL2 signalling leads to recruitment of monocytes, memory T cells, basophils and dendritic cells - but not neutrophils or eosinophils - to the sites of inflammation produced by either tissue injury or infection (PMID: 8170963, PMID 8830793, 8627182, 9792674, 8195247). CCL2 may be involved in the recruitment of monocytes into the arterial wall during the disease process of atherosclerosis (PMID:8107690), but also in the pathogenesis of additional diseases characterized by monocytic infiltrates, such as psoriasis or rheumatoid arthritis.
Dysfunction and disease
Certain polymorphisms in this gene have been linked to disease susceptibility, resistance or severity. For instance, maternal homozygosity for the -2518A-G change in the promoter region has been associated with increased maternal inflammation and elevated body temperature leading to the development of spina bifida (PMID:16596675). The -2518A-G change was also associated with disease severity in coronary artery disease patients (PMID:11500196). Homozygosity for the -2518G polymorphism was also in itially associated with increased susceptibility to pulmonary tuberculosis (TB) in a Mexican cohort (PMID:16352737), however a later study on a larger and more diverse cohort reported an increased resistance to TB for the homozygous -2518G allele (PMID:18940815). A study on HIV-1 transmission (PMID:14571188) found that the H7 haplotype, which contains two SNPs in the CCL2 gene (-2136T in the CCL2 promoter, and 767G in intron 1) and one SNP (-1385A) in the CCL11 promoter, was significantly enriched in uninfected individuals repeatedly exposed to HIV-1. [Load More]
[Reviewed by Andrés Caballero-Oteyza on 2021-01-26 10:35:43]
Associated conditions
Please mind that full curation (inclusion of all published patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of CCL2
Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
---|---|---|---|---|---|---|---|---|---|
201 | ENST00000225831.4 | CCDS11277 | Select | protein_coding | 3 | Yes | 741 | NM_002982 |
Published variants
Found 0 variants
Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
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Please mind that full curation (inclusion of all published variants) of this gene has not started yet. Please contact us if you want to volunteer.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
Year | Paradigm ⓘ | PMID | Notes |
---|---|---|---|
- | Regions of Homology | - | |
- | Cryptic splicing | - | Unreported or not recorded in our DB. |
- | Uniparental disomy | - | Unreported or not recorded in our DB. |
- | Mosaicism | - | Unreported or not recorded in our DB. |
- | Incomplete penetrance | - | Unreported or not recorded in our DB. |
- | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
- | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in CCL2
ID | Year | Title | Journal | PMID | Variants |
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