CCL24

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

Basic information

Region (hg38): 7:75810824-75823356

Previous symbols: [ "SCYA24" ]

Links

ENSG00000106178 ∙ NCBI:6369 ∙ OMIM:602495 ∙ HGNC:10623 ∙ Uniprot:O00175 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

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			3			3
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	3	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
7-75811923-T-C		not specified	Uncertain significance (Jan 17, 2024)
7-75813360-C-A		not specified	Uncertain significance (Dec 07, 2023)
7-75813685-G-A		not specified	Uncertain significance (Feb 23, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CCL24	protein_coding	protein_coding	ENST00000416943	3	11692

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00709	0.548	125645	0	16	125661	0.0000637

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.692	50	65.8	0.760	0.00000311	770
Missense in Polyphen		7	15.74	0.44471		209
Synonymous	0.0954	24	24.6	0.976	0.00000124	232
Loss of Function	0.0808	3	3.15	0.951	2.19e-7	30

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000431	0.000431
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000473	0.0000464
European (Non-Finnish)	0.0000616	0.0000616
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

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

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

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