CCL4
Basic information
Region (hg38): 17:36103826-36105621
Previous symbols: [ "LAG1", "SCYA4" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (2 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCL4 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 | 2 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region ? | 0 | |||||
| non coding ? | 0 | |||||
| Total | 0 | 0 | 2 | 0 | 0 |
Variants in CCL4
This is a list of pathogenic ClinVar variants found in the CCL4 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 17-36105243-C-G | not specified | Uncertain significance (Jun 13, 2022) | ||
| 17-36105289-G-A | not specified | Likely benign (Dec 21, 2023) | ||
| 17-36105296-A-T | not specified | Uncertain significance (Jun 21, 2023) |
GnomAD
Source:
dbNSFP
Source:
- Function
- FUNCTION: Monokine with inflammatory and chemokinetic properties. Binds to CCR5. One of the major HIV-suppressive factors produced by CD8+ T-cells. Recombinant MIP-1-beta induces a dose-dependent inhibition of different strains of HIV-1, HIV-2, and simian immunodeficiency virus (SIV). The processed form MIP-1-beta(3-69) retains the abilities to induce down-modulation of surface expression of the chemokine receptor CCR5 and to inhibit the CCR5- mediated entry of HIV-1 in T-cells. MIP-1-beta(3-69) is also a ligand for CCR1 and CCR2 isoform B. {ECO:0000269|PubMed:10540332, ECO:0000269|PubMed:12070155, ECO:0000269|PubMed:8525373}.;
- Pathway
- Salmonella infection - Homo sapiens (human);Chemokine signaling pathway - Homo sapiens (human);Cytosolic DNA-sensing pathway - Homo sapiens (human);Toll-like receptor signaling pathway - Homo sapiens (human);NF-kappa B signaling pathway - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human);Regulation of toll-like receptor signaling pathway;Lung fibrosis;Chemokine signaling pathway;Interleukin-10 signaling;Toll-like Receptor Signaling Pathway;Signaling by GPCR;Signal Transduction;pertussis toxin-insensitive ccr5 signaling in macrophage;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;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;BCR;roles of arrestin dependent recruitment of src kinases in gpcr signaling;activation of pkc through g-protein coupled receptors;-arrestins in gpcr desensitization;G alpha (i) signalling events;GPCR downstream signalling;IL12-mediated signaling events
(Consensus)
Recessive Scores
- pRec
- 0.372
Intolerance Scores
- loftool
- 0.758
- rvis_EVS
- 0.1
- rvis_percentile_EVS
- 61.28
Haploinsufficiency Scores
- pHI
- 0.179
- hipred
- N
- hipred_score
- 0.112
- ghis
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.597
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Ccl4
- Phenotype
Gene ontology
- Biological process
- monocyte chemotaxis;inflammatory response;immune response;cell adhesion;establishment or maintenance of cell polarity;signal transduction;G protein-coupled receptor signaling pathway;cell-cell signaling;response to virus;response to toxic substance;regulation of signaling receptor activity;cytokine-mediated signaling pathway;neutrophil chemotaxis;positive regulation of GTPase activity;negative regulation by host of viral transcription;eosinophil chemotaxis;lymphocyte chemotaxis;positive regulation of calcium-mediated signaling;positive regulation of calcium ion transport;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 natural killer cell chemotaxis
- Cellular component
- extracellular region;extracellular space
- Molecular function
- cytokine activity;protein binding;chemokine activity;CCR1 chemokine receptor binding;CCR5 chemokine receptor binding;identical protein binding;CCR chemokine receptor binding