CCL5
C-C motif chemokine ligand 5, the group of Chemokine ligands
Basic information
Region (hg38): 17:35871490-35880793
Previous symbols: [ "D17S136E", "SCYA5" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (2 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCL5 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 | 2 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region ? | 0 | |||||
| non coding ? | 0 | |||||
| Total | 0 | 0 | 1 | 1 | 0 |
Variants in CCL5
This is a list of pathogenic ClinVar variants found in the CCL5 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 17-35878597-C-T | not specified | Uncertain significance (Aug 02, 2022) | ||
| 17-35878628-T-C | not specified | Uncertain significance (Oct 05, 2023) | ||
| 17-35879999-A-G | Human immunodeficiency virus type 1, rapid disease progression with infection by | Pathogenic (Jul 23, 2002) | ||
| 17-35880292-G-A | not specified | Likely benign (Feb 03, 2022) | ||
| 17-35880401-G-C | Human immunodeficiency virus type 1, delayed disease progression with infection by | Pathogenic (Mar 01, 2003) |
GnomAD
Source:
dbNSFP
Source:
- Function
- FUNCTION: Chemoattractant for blood monocytes, memory T-helper cells and eosinophils. Causes the release of histamine from basophils and activates eosinophils. May activate several chemokine receptors including CCR1, CCR3, CCR4 and CCR5. One of the major HIV-suppressive factors produced by CD8+ T-cells. Recombinant RANTES protein induces a dose-dependent inhibition of different strains of HIV-1, HIV-2, and simian immunodeficiency virus (SIV). The processed form RANTES(3-68) acts as a natural chemotaxis inhibitor and is a more potent inhibitor of HIV-1- infection. The second processed form RANTES(4-68) exhibits reduced chemotactic and HIV-suppressive activity compared with RANTES(1- 68) and RANTES(3-68) and is generated by an unidentified enzyme associated with monocytes and neutrophils (PubMed:16791620, PubMed:1380064, PubMed:8525373, PubMed:9516414, PubMed:15923218). May also be an agonist of the G protein-coupled receptor GPR75, stimulating inositol trisphosphate production and calcium mobilization through its activation. Together with GPR75, may play a role in neuron survival through activation of a downstream signaling pathway involving the PI3, Akt and MAP kinases. By activating GPR75 may also play a role in insulin secretion by islet cells (PubMed:23979485). {ECO:0000269|PubMed:1380064, ECO:0000269|PubMed:15923218, ECO:0000269|PubMed:16791620, ECO:0000269|PubMed:17001303, ECO:0000269|PubMed:23979485, ECO:0000269|PubMed:8525373, ECO:0000269|PubMed:9516414}.;
- Pathway
- Prion diseases - Homo sapiens (human);Influenza A - Homo sapiens (human);TNF signaling pathway - Homo sapiens (human);Chemokine signaling pathway - Homo sapiens (human);Cytosolic DNA-sensing pathway - Homo sapiens (human);Epithelial cell signaling in Helicobacter pylori infection - Homo sapiens (human);Chagas disease (American trypanosomiasis) - Homo sapiens (human);Toll-like receptor signaling pathway - Homo sapiens (human);NOD-like receptor signaling pathway - Homo sapiens (human);Rheumatoid arthritis - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human);Herpes simplex infection - Homo sapiens (human);Regulation of toll-like receptor signaling pathway;Vitamin B12 Metabolism;TNF related weak inducer of apoptosis (TWEAK) Signaling Pathway;EBV LMP1 signaling;Lung fibrosis;Chemokine signaling pathway;Interleukin-10 signaling;Toll-like Receptor Signaling Pathway;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;Validated targets of C-MYC transcriptional repression;Syndecan-1-mediated signaling events;Syndecan-4-mediated signaling events
(Consensus)
Recessive Scores
- pRec
- 0.467
Intolerance Scores
- loftool
- 0.625
- rvis_EVS
- -0.12
- rvis_percentile_EVS
- 44.54
Haploinsufficiency Scores
- pHI
- 0.0905
- hipred
- N
- hipred_score
- 0.170
- ghis
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.170
Mouse Genome Informatics
- Gene name
- Ccl5
- Phenotype
- hematopoietic system phenotype; immune system phenotype;
Gene ontology
- Biological process
- MAPK cascade;dendritic cell chemotaxis;monocyte chemotaxis;regulation of chronic inflammatory response;calcium ion transport;cellular calcium ion homeostasis;exocytosis;chemotaxis;inflammatory response;leukocyte cell-cell adhesion;G protein-coupled receptor signaling pathway;cell-cell signaling;response to virus;response to toxic substance;regulation of signaling receptor activity;positive regulation of activation of Janus kinase activity;positive regulation of macrophage chemotaxis;positive regulation of T cell chemotaxis;positive regulation of phosphatidylinositol 3-kinase signaling;positive regulation of smooth muscle cell migration;cytokine-mediated signaling pathway;positive regulation of cell migration;neutrophil chemotaxis;positive regulation of cellular biosynthetic process;activation of phospholipase D activity;lipopolysaccharide-mediated signaling pathway;positive regulation of cell-cell adhesion mediated by integrin;positive regulation of homotypic cell-cell adhesion;positive regulation of T cell proliferation;neutrophil activation;positive regulation of phosphorylation;positive regulation of tyrosine phosphorylation of STAT protein;protein kinase B signaling;positive regulation of GTPase activity;negative regulation by host of viral transcription;cellular response to fibroblast growth factor stimulus;positive regulation of viral genome replication;negative regulation of viral genome replication;positive regulation of innate immune response;negative regulation of G protein-coupled receptor signaling pathway;positive regulation of cell adhesion;positive regulation of translational initiation;positive regulation of JAK-STAT cascade;eosinophil chemotaxis;macrophage chemotaxis;lymphocyte chemotaxis;positive regulation of smooth muscle cell proliferation;positive regulation of epithelial cell proliferation;regulation of insulin secretion;regulation of T cell activation;positive chemotaxis;protein tetramerization;positive regulation of calcium ion transport;positive regulation of protein tyrosine kinase activity;chemokine-mediated signaling pathway;negative regulation of chemokine-mediated signaling pathway;negative regulation of T cell apoptotic process;positive regulation of T cell apoptotic process;positive regulation of ERK1 and ERK2 cascade;cellular response to interferon-gamma;cellular response to interleukin-1;cellular response to tumor necrosis factor;cellular response to organic cyclic compound;positive regulation of monocyte chemotaxis;regulation of neuron death;negative regulation of macrophage apoptotic process;positive regulation of T cell migration;positive regulation of natural killer cell chemotaxis
- Cellular component
- extracellular region;extracellular space;cytoplasm
- Molecular function
- phosphatidylinositol phospholipase C activity;protein kinase activity;protein binding;chemokine activity;phospholipase activator activity;receptor signaling protein tyrosine kinase activator activity;CCR1 chemokine receptor binding;CCR4 chemokine receptor binding;CCR5 chemokine receptor binding;chemoattractant activity;chemokine receptor binding;identical protein binding;protein homodimerization activity;protein self-association;chemokine receptor antagonist activity;CCR chemokine receptor binding