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GeneBe

CCL26

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

Basic information

Region (hg38): 7:75769532-75789896

Previous symbols: [ "SCYA26" ]

Links

ENSG00000006606NCBI:10344OMIM:604697HGNC:10625Uniprot:Q9Y258AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CCL26 gene.

  • Inborn genetic diseases (4 variants)
  • not provided (1 variants)

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
3
clinvar
1
clinvar
4
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
1
clinvar
1
Total 0 0 3 2 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 Inborn genetic diseases Uncertain significance (Sep 12, 2023)2622834
7-75771899-G-A Inborn genetic diseases Uncertain significance (Aug 01, 2022)2204843
7-75771934-C-T Inborn genetic diseases Likely benign (Nov 21, 2022)2351452
7-75771997-C-A Inborn genetic diseases Uncertain significance (Oct 14, 2021)2255368
7-75772013-A-G Likely benign (Mar 29, 2018)747133

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
CCL26protein_codingprotein_codingENST00000394905 320364
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.01010.6241238761218501257380.00743
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.2035550.91.080.00000257604
Missense in Polyphen2012.4141.6111158
Synonymous0.1471818.80.9578.77e-7177
Loss of Function0.36333.760.7982.59e-735

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.005330.00533
Ashkenazi Jewish0.01060.0106
East Asian0.000.00
Finnish0.01070.0106
European (Non-Finnish)0.01160.0115
Middle Eastern0.000.00
South Asian0.0008170.000817
Other0.006840.00670

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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