Basic Information
CCL2
Full name: C-C motif chemokine ligand 2
Gene type: protein coding
HGNC ID: HGNC:10618
Gene location: 17q12
Gene resources
NCBI: https://www.ncbi.nlm.nih.gov/gene/6347
Alliance of genome: https://www.alliancegenome.org/gene/HGNC:10618
MANE select: https://www.ncbi.nlm.nih.gov/gene/?term=NM_002982.4
Protein resources
UniProt/Swiss-Prot: https://www.uniprot.org/uniprot/P13500
AlphaFold: https://alphafold.ebi.ac.uk/entry/P13500
MEME motif:
Clinical resources
Pathway resources
KEGG pathway: https://www.genome.jp/pathway/hsa04060+6347
Variant resources
Gene | Disease type | Variant type | NCBI dbSNP | Alleles | Variant location |
---|---|---|---|---|---|
CCL2 | 3 Prime UTR Variant | rs13900 | C>A / C>G / C>T | chr17:34256892 (GRCh38.p13) | |
CCL2 | AMD | 2KB Upstream Variant | rs3760396 | G>C / G>T | chr17:34254422 (GRCh38.p13) |
CCL2 | AMD | Stop Gained | rs4586 | T>A / T>C | chr17:34256250 (GRCh38.p13) |
CCL2 | AMD | rs1024611 | |||
CCL2 | 0.25 (0.04–1.65) | Intron Variant | rs28730833 | T>A / T>C | chr17:34255475 (GRCh38.p13) |
CCL2 | Early AMD | rs2857656 |