CCL11

C-C motif chemokine ligand 11, the group of Chemokine ligands

Basic information

Region (hg38): 17:34285742-34288334

Previous symbols: [ "SCYA11" ]

Links

ENSG00000172156 ∙ NCBI:6356 ∙ OMIM:601156 ∙ HGNC:10610 ∙ Uniprot:P51671 ∙ 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 CCL11 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCL11 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				1		1
missense			6		2	8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	6	1	2

Variants in CCL11

This is a list of pathogenic ClinVar variants found in the CCL11 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-34285855-C-T		not specified	Uncertain significance (Sep 29, 2023)
17-34285864-C-A		not specified	Uncertain significance (Aug 12, 2021)
17-34285875-G-A		CCL11-related disorder	Benign (Oct 25, 2019)
17-34287103-C-G		CCL11-related disorder	Likely benign (Jun 05, 2019)
17-34287138-A-T		not specified	Uncertain significance (Jun 30, 2023)
17-34287143-C-A		not specified	Uncertain significance (Oct 14, 2023)
17-34287602-C-A		not specified	Uncertain significance (May 17, 2023)
17-34287623-C-A		not specified	Uncertain significance (May 23, 2023)
17-34287653-A-C			Benign (Jul 06, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CCL11	protein_coding	protein_coding	ENST00000305869	3	2667

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0102	0.626	125733	0	13	125746	0.0000517

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.415	59	50.7	1.16	0.00000237	623
Missense in Polyphen		11	10.045	1.0951		129
Synonymous	-1.10	27	20.6	1.31	0.00000104	193
Loss of Function	0.370	3	3.78	0.795	2.45e-7	33

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000870	0.0000870
Ashkenazi Jewish	0.0000994	0.0000992
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000528	0.0000527
Middle Eastern	0.00	0.00
South Asian	0.0000980	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: In response to the presence of allergens, this protein directly promotes the accumulation of eosinophils, a prominent feature of allergic inflammatory reactions. Binds to CCR3.
• Pathway: Asthma - Homo sapiens (human);Chemokine signaling pathway - Homo sapiens (human);IL-17 signaling pathway - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human);Thymic Stromal LymphoPoietin (TSLP) Signaling Pathway;Lung fibrosis;Chemokine signaling pathway;Interleukin-4 and 13 signaling;g-protein signaling through tubby proteins;corticosteroids and cardioprotection;cystic fibrosis transmembrane conductance regulator (cftr) and beta 2 adrenergic receptor (b2ar) pathway;ion channels and their functional role in vascular endothelium;ccr3 signaling in eosinophils;activation of csk by camp-dependent protein kinase inhibits signaling through the t cell receptor;chrebp regulation by carbohydrates and camp;role of -arrestins in the activation and targeting of map kinases;activation of camp-dependent protein kinase pka;roles of arrestin dependent recruitment of src kinases in gpcr signaling;activation of pkc through g-protein coupled receptors;-arrestins in gpcr desensitization;CXCR3-mediated signaling events;IL4-mediated signaling events (Consensus)

Recessive Scores

• pRec: 0.266

Intolerance Scores

• loftool: 0.769
• rvis_EVS: 0.3
• rvis_percentile_EVS: 72.01

Haploinsufficiency Scores

• pHI: 0.0145
• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.801

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ccl11
• Phenotype: hematopoietic system phenotype; normal phenotype; respiratory system phenotype; immune system phenotype

Gene ontology

• Biological process: positive regulation of endothelial cell proliferation;chronic inflammatory response;monocyte chemotaxis;mast cell chemotaxis;protein phosphorylation;cellular calcium ion homeostasis;chemotaxis;inflammatory response;cytoskeleton organization;actin filament organization;cell adhesion;signal transduction;G protein-coupled receptor signaling pathway;regulation of cell shape;response to radiation;response to virus;regulation of signaling receptor activity;cytokine-mediated signaling pathway;positive regulation of cell migration;neutrophil chemotaxis;positive regulation of actin filament polymerization;response to interleukin-13;positive regulation of GTPase activity;positive regulation of angiogenesis;eosinophil chemotaxis;lymphocyte chemotaxis;branching involved in mammary gland duct morphogenesis;mammary duct terminal end bud growth;chemokine-mediated signaling pathway;ERK1 and ERK2 cascade;positive regulation of ERK1 and ERK2 cascade;response to interleukin-4;cellular response to interferon-gamma;cellular response to interleukin-1;cellular response to tumor necrosis factor
• Cellular component: extracellular region;extracellular space;cell
• Molecular function: protein binding;chemokine activity;CCR3 chemokine receptor binding;protein dimerization activity;receptor ligand activity;CCR chemokine receptor binding