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GeneBe

CCL3

C-C motif chemokine ligand 3, the group of Chemokine ligands

Basic information

Region (hg38): 17:36088255-36090169

Previous symbols: [ "SCYA3" ]

Links

ENSG00000277632NCBI:6348OMIM:182283HGNC:10627Uniprot:P10147AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CCL3 gene.

  • Inborn genetic diseases (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCL3 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
clinvar
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 2 0 0

Variants in CCL3

This is a list of pathogenic ClinVar variants found in the CCL3 region.

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

Position Type Phenotype Significance ClinVar
17-36088748-C-T Inborn genetic diseases Uncertain significance (Aug 21, 2023)2591827
17-36089189-C-A Inborn genetic diseases Uncertain significance (Aug 12, 2021)2393178

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function
FUNCTION: Monokine with inflammatory and chemokinetic properties. Binds to CCR1, CCR4 and CCR5. One of the major HIV-suppressive factors produced by CD8+ T-cells. Recombinant MIP-1-alpha induces a dose-dependent inhibition of different strains of HIV-1, HIV-2, and simian immunodeficiency virus (SIV). {ECO:0000269|PubMed:8525373}.;
Pathway
Salmonella infection - Homo sapiens (human);Chemokine signaling pathway - Homo sapiens (human);Chagas disease (American trypanosomiasis) - Homo sapiens (human);Toll-like receptor signaling pathway - Homo sapiens (human);Rheumatoid arthritis - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human);Regulation of toll-like receptor signaling pathway;Lung fibrosis;Chemokine signaling pathway;Interleukin-10 signaling;Senescence and Autophagy in Cancer;Toll-like Receptor Signaling Pathway;BCR;IL12-mediated signaling events (Consensus)

Recessive Scores

pRec
0.676

Intolerance Scores

loftool
0.425
rvis_EVS
0.28
rvis_percentile_EVS
71.08

Haploinsufficiency Scores

pHI
0.137
hipred
N
hipred_score
0.139
ghis

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.930

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Ccl3
Phenotype
homeostasis/metabolism 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); 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); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); immune system phenotype;

Gene ontology

Biological process
MAPK cascade;osteoblast differentiation;cell activation;monocyte chemotaxis;calcium ion transport;cellular calcium ion homeostasis;exocytosis;chemotaxis;inflammatory response;cytoskeleton organization;G protein-coupled receptor signaling pathway;cell-cell signaling;regulation of cell shape;response to toxic substance;regulation of signaling receptor activity;positive regulation of gene expression;negative regulation of gene expression;T cell chemotaxis;release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;cytokine-mediated signaling pathway;calcium-mediated signaling;signaling;positive regulation of cell migration;negative regulation of bone mineralization;neutrophil chemotaxis;lipopolysaccharide-mediated signaling pathway;positive regulation of tumor necrosis factor production;eosinophil degranulation;protein kinase B signaling;positive regulation of neuron apoptotic process;positive regulation of GTPase activity;astrocyte cell migration;negative regulation by host of viral transcription;negative regulation of osteoclast differentiation;eosinophil chemotaxis;macrophage chemotaxis;lymphocyte chemotaxis;positive regulation of interleukin-1 beta secretion;positive regulation of inflammatory response;regulation of behavior;positive regulation of calcium-mediated signaling;positive chemotaxis;positive regulation of protein kinase B signaling;positive regulation of calcium ion transport;regulation of sensory perception of pain;chemokine-mediated signaling pathway;positive regulation of ERK1 and ERK2 cascade;response to cholesterol;cellular response to interferon-gamma;cellular response to interleukin-1;cellular response to tumor necrosis factor;cellular response to organic cyclic compound;granulocyte chemotaxis;positive regulation of calcium ion import;positive regulation of natural killer cell chemotaxis
Cellular component
extracellular region;extracellular space;cytoplasm;cytosol
Molecular function
protein kinase activity;calcium-dependent protein kinase C activity;protein binding;chemokine activity;phospholipase activator activity;kinase activity;CCR1 chemokine receptor binding;CCR5 chemokine receptor binding;chemoattractant activity;identical protein binding;CCR chemokine receptor binding