CCL26

C-C motif chemokine ligand 26, the group of Chemokine ligands

Basic information

Region (hg38): 7:75769532-75789896

Previous symbols: [ "SCYA26" ]

Links

ENSG00000006606 ∙ NCBI:10344 ∙ OMIM:604697 ∙ HGNC:10625 ∙ Uniprot:Q9Y258 ∙ 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 CCL26 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCL26 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			7	2		9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				1		1
Total	0	0	7	3	0

Variants in CCL26

This is a list of pathogenic ClinVar variants found in the CCL26 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-75769703-T-G		not specified	Uncertain significance (Sep 12, 2023)
7-75769746-T-C		not specified	Likely benign (Dec 20, 2023)
7-75771899-G-A		not specified	Uncertain significance (Aug 01, 2022)
7-75771929-A-C		not specified	Uncertain significance (Feb 28, 2024)
7-75771934-C-T		not specified	Likely benign (Nov 21, 2022)
7-75771943-G-A		not specified	Uncertain significance (Oct 28, 2023)
7-75771960-G-T		not specified	Uncertain significance (Dec 20, 2023)
7-75771988-G-A		not specified	Uncertain significance (Dec 09, 2023)
7-75771997-C-A		not specified	Uncertain significance (Oct 14, 2021)
7-75772013-A-G			Likely benign (Mar 29, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CCL26	protein_coding	protein_coding	ENST00000394905	3	20364

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0101	0.624	123876	12	1850	125738	0.00743

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.203	55	50.9	1.08	0.00000257	604
Missense in Polyphen		20	12.414	1.6111		158
Synonymous	0.147	18	18.8	0.957	8.77e-7	177
Loss of Function	0.363	3	3.76	0.798	2.59e-7	35

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00533	0.00533
Ashkenazi Jewish	0.0106	0.0106
East Asian	0.00	0.00
Finnish	0.0107	0.0106
European (Non-Finnish)	0.0116	0.0115
Middle Eastern	0.00	0.00
South Asian	0.000817	0.000817
Other	0.00684	0.00670

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Chemoattractant for eosinophils and basophils (PubMed:10415065, PubMed:10488147). Acts as a ligand for C-C chemokine receptor CCR3 which triggers Ca(2+) mobilization in eosinophils (PubMed:10415065, PubMed:10488147, PubMed:11425309). {ECO:0000269|PubMed:10415065, ECO:0000269|PubMed:10488147, ECO:0000269|PubMed:11425309}.
• Pathway: Chemokine signaling pathway - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human);Chemokine signaling pathway;IL4-mediated signaling events (Consensus)

Recessive Scores

• pRec: 0.217

Intolerance Scores

• loftool: 0.752
• rvis_EVS: 0.52
• rvis_percentile_EVS: 80.46

Haploinsufficiency Scores

• pHI: 0.213
• hipred: N
• hipred_score: 0.123
• ghis: 0.403

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.142

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ccl26
• Phenotype: homeostasis/metabolism phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: positive regulation of endothelial cell proliferation;monocyte chemotaxis;chemotaxis;inflammatory response;signal transduction;G protein-coupled receptor signaling pathway;cell-cell signaling;regulation of signaling receptor activity;T cell chemotaxis;positive regulation of cell migration;neutrophil chemotaxis;positive regulation of actin filament polymerization;positive regulation of GTPase activity;eosinophil chemotaxis;lymphocyte chemotaxis;positive regulation of chemotaxis;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
• Cellular component: extracellular space
• Molecular function: protein binding;chemokine activity;CCR3 chemokine receptor binding;receptor ligand activity;CCR chemokine receptor binding