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CCL24

C-C motif chemokine ligand 24, the group of Chemokine ligands

Basic information

Region (hg38): 7:75810824-75823356

Previous symbols: [ "SCYA24" ]

Links

ENSG00000106178NCBI:6369OMIM:602495HGNC:10623Uniprot:O00175AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CCL24 gene.

  • Inborn genetic diseases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCL24 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
1
clinvar
1
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 0 0

Variants in CCL24

This is a list of pathogenic ClinVar variants found in the CCL24 region.

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

Position Type Phenotype Significance ClinVar
7-75813685-G-A Inborn genetic diseases Uncertain significance (Feb 23, 2023)2488574

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
CCL24protein_codingprotein_codingENST00000416943 311692
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.007090.5481256450161256610.0000637
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.6925065.80.7600.00000311770
Missense in Polyphen715.740.44471209
Synonymous0.09542424.60.9760.00000124232
Loss of Function0.080833.150.9512.19e-730

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0004310.000431
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.00004730.0000464
European (Non-Finnish)0.00006160.0000616
Middle Eastern0.000.00
South Asian0.00003270.0000327
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Chemotactic for resting T-lymphocytes, and eosinophils. Has lower chemotactic activity for neutrophils but none for monocytes and activated lymphocytes. Is a strong suppressor of colony formation by a multipotential hematopoietic progenitor cell line. Binds to CCR3.;
Pathway
Chemokine signaling pathway - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human);Chemokine signaling pathway (Consensus)

Recessive Scores

pRec
0.188

Intolerance Scores

loftool
0.568
rvis_EVS
0.9
rvis_percentile_EVS
89.35

Haploinsufficiency Scores

pHI
0.0575
hipred
N
hipred_score
0.123
ghis
0.392

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.148

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Ccl24
Phenotype
immune system phenotype; respiratory system phenotype; hematopoietic system phenotype;

Gene ontology

Biological process
positive regulation of endothelial cell proliferation;monocyte chemotaxis;chemotaxis;inflammatory response;immune response;cytoskeleton organization;signal transduction;G protein-coupled receptor signaling pathway;cell-cell signaling;regulation of cell shape;regulation of signaling receptor activity;positive regulation of cell migration;neutrophil chemotaxis;positive regulation of actin filament polymerization;positive regulation of GTPase activity;positive regulation of angiogenesis;eosinophil chemotaxis;lymphocyte chemotaxis;positive regulation of inflammatory response;chemokine-mediated signaling pathway;positive regulation of ERK1 and ERK2 cascade;cellular response to interferon-gamma;cellular response to interleukin-1;cellular response to tumor necrosis factor;positive regulation of eosinophil migration
Cellular component
extracellular space
Molecular function
protein binding;chemokine activity;CCR3 chemokine receptor binding;receptor ligand activity;CCR chemokine receptor binding