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GeneBe

CCL23

C-C motif chemokine ligand 23, the group of Chemokine ligands

Basic information

Region (hg38): 17:36013055-36017972

Previous symbols: [ "SCYA23" ]

Links

ENSG00000274736NCBI:6368OMIM:602494HGNC:10622Uniprot:P55773AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CCL23 gene.

  • Inborn genetic diseases (11 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCL23 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
11
clinvar
11
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 11 0 0

Variants in CCL23

This is a list of pathogenic ClinVar variants found in the CCL23 region.

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

Position Type Phenotype Significance ClinVar
17-36013219-C-T not specified Uncertain significance (Feb 05, 2024)3139734
17-36013229-G-C not specified Uncertain significance (Jul 20, 2022)2404657
17-36013270-G-A not specified Uncertain significance (May 17, 2023)2546995
17-36013288-C-G not specified Uncertain significance (Dec 03, 2021)2207294
17-36013753-G-A not specified Uncertain significance (Mar 01, 2024)3139733
17-36013769-T-C not specified Uncertain significance (Jul 14, 2021)2236974
17-36013804-G-A not specified Uncertain significance (Mar 17, 2023)2509431
17-36013813-C-T not specified Uncertain significance (Aug 13, 2021)2204535
17-36013814-G-A Uncertain significance (-)92029
17-36013820-T-C not specified Uncertain significance (Jun 24, 2022)3139732
17-36013826-A-G not specified Uncertain significance (Mar 16, 2022)2226679
17-36013826-A-T not specified Uncertain significance (Jun 24, 2022)3139731
17-36013838-C-T not specified Uncertain significance (Jan 04, 2024)3139730
17-36013866-A-T not specified Uncertain significance (Mar 11, 2024)3139729
17-36013908-C-T not specified Uncertain significance (Jul 27, 2022)2389795
17-36014346-C-T not specified Uncertain significance (Feb 10, 2022)2276239
17-36014382-C-T not specified Uncertain significance (Jan 23, 2023)2467366
17-36017882-C-T not specified Uncertain significance (Dec 13, 2022)2334403

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function
FUNCTION: Shows chemotactic activity for monocytes, resting T- lymphocytes, and neutrophils, but not for activated lymphocytes. Inhibits proliferation of myeloid progenitor cells in colony formation assays. This protein can bind heparin. Binds CCR1. CCL23(19-99), CCL23(22-99), CCL23(27-99), CCL23(30-99) are more potent chemoattractants than the small-inducible cytokine A23. {ECO:0000269|PubMed:15905581}.;
Pathway
Chemokine signaling pathway - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human);Signaling by GPCR;Signal Transduction;Formyl peptide receptors bind formyl peptides and many other ligands;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (i) signalling events;G alpha (q) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

pRec
0.0665

Intolerance Scores

loftool
0.683
rvis_EVS
0.28
rvis_percentile_EVS
71.08

Haploinsufficiency Scores

pHI
0.0885
hipred
N
hipred_score
0.112
ghis

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.653

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Gene ontology

Biological process
monocyte chemotaxis;cellular calcium ion homeostasis;chemotaxis;inflammatory response;immune response;signal transduction;G protein-coupled receptor signaling pathway;cell-cell signaling;negative regulation of cell population proliferation;regulation of signaling receptor activity;neutrophil chemotaxis;positive regulation of GTPase activity;eosinophil chemotaxis;lymphocyte 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;negative regulation of C-C chemokine binding
Cellular component
extracellular region;extracellular space;cell
Molecular function
chemokine activity;heparin binding;CCR1 chemokine receptor binding;CCR chemokine receptor binding