CXCL8
C-X-C motif chemokine ligand 8, the group of Interleukins|Chemokine ligands
Basic information
Region (hg38): 4:73740519-73743716
Previous symbols: [ "IL8" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the CXCL8 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 | |||||
| missense | 2 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 1 | 1 | ||||
| non coding | 0 | |||||
| Total | 0 | 0 | 2 | 1 | 0 |
Variants in CXCL8
This is a list of pathogenic ClinVar variants found in the CXCL8 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 4-73740676-C-T | Likely benign (May 21, 2018) | |||
| 4-73740727-G-C | Likely benign (Aug 16, 2018) | |||
| 4-73741568-G-T | CXCL8-related disorder | Likely benign (May 31, 2023) | ||
| 4-73741623-T-C | not specified | Uncertain significance (Jun 29, 2023) | ||
| 4-73742001-G-A | not specified | Uncertain significance (Sep 17, 2021) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| CXCL8 | protein_coding | protein_coding | ENST00000307407 | 4 | 3211 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.000274 | 0.349 | 125329 | 3 | 394 | 125726 | 0.00158 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | -0.516 | 59 | 48.8 | 1.21 | 0.00000221 | 637 |
| Missense in Polyphen | 24 | 15.702 | 1.5285 | 214 | ||
| Synonymous | -0.455 | 20 | 17.6 | 1.14 | 8.36e-7 | 187 |
| Loss of Function | -0.229 | 5 | 4.48 | 1.12 | 1.87e-7 | 63 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000469 | 0.000469 |
| Ashkenazi Jewish | 0.00358 | 0.00358 |
| East Asian | 0.000273 | 0.000272 |
| Finnish | 0.00694 | 0.00691 |
| European (Non-Finnish) | 0.00120 | 0.00120 |
| Middle Eastern | 0.000273 | 0.000272 |
| South Asian | 0.00147 | 0.00141 |
| Other | 0.00196 | 0.00196 |
dbNSFP
Source:
- Function
- FUNCTION: IL-8 is a chemotactic factor that attracts neutrophils, basophils, and T-cells, but not monocytes. It is also involved in neutrophil activation. It is released from several cell types in response to an inflammatory stimulus. IL-8(6-77) has a 5-10-fold higher activity on neutrophil activation, IL-8(5-77) has increased activity on neutrophil activation and IL-8(7-77) has a higher affinity to receptors CXCR1 and CXCR2 as compared to IL-8(1-77), respectively. {ECO:0000269|PubMed:11978786, ECO:0000269|PubMed:2145175, ECO:0000269|PubMed:2212672}.;
- Pathway
- Kaposi,s sarcoma-associated herpesvirus infection - Homo sapiens (human);Pertussis - Homo sapiens (human);Salmonella infection - Homo sapiens (human);Legionellosis - Homo sapiens (human);Non-alcoholic fatty liver disease (NAFLD) - Homo sapiens (human);AGE-RAGE signaling pathway in diabetic complications - Homo sapiens (human);Bladder cancer - Homo sapiens (human);Influenza A - Homo sapiens (human);Chemokine signaling pathway - Homo sapiens (human);Amoebiasis - Homo sapiens (human);Malaria - Homo sapiens (human);Epithelial cell signaling in Helicobacter pylori infection - Homo sapiens (human);Chagas disease (American trypanosomiasis) - Homo sapiens (human);Toll-like receptor signaling pathway - Homo sapiens (human);NOD-like receptor signaling pathway - Homo sapiens (human);IL-17 signaling pathway - Homo sapiens (human);Phospholipase D signaling pathway - Homo sapiens (human);Shigellosis - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Transcriptional misregulation in cancer - Homo sapiens (human);Hepatitis C - Homo sapiens (human);Hepatitis B - Homo sapiens (human);Rheumatoid arthritis - Homo sapiens (human);NF-kappa B signaling pathway - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human);Cellular senescence - Homo sapiens (human);RIG-I-like receptor signaling pathway - Homo sapiens (human);Regulation of toll-like receptor signaling pathway;ATF4 activates genes;Thymic Stromal LymphoPoietin (TSLP) Signaling Pathway;Allograft Rejection;Corticotropin-releasing hormone signaling pathway;Spinal Cord Injury;EBV LMP1 signaling;Bladder Cancer;IL-3 Signaling Pathway;Overview of nanoparticle effects;Senescence-Associated Secretory Phenotype (SASP);Photodynamic therapy-induced NF-kB survival signaling;Lung fibrosis;Hepatitis C and Hepatocellular Carcinoma;RIG-I-like Receptor Signaling;VEGFA-VEGFR2 Signaling Pathway;Interleukin-10 signaling;Interleukin-4 and 13 signaling;Senescence and Autophagy in Cancer;Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways;Toll-like Receptor Signaling Pathway;Signaling by GPCR;Signal Transduction;nfkb activation by nontypeable hemophilus influenzae;JAK STAT MolecularVariation 1;Senescence-Associated Secretory Phenotype (SASP);Cellular Senescence;Cellular responses to stress;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;ATF-2 transcription factor network;Chemokine receptors bind chemokines;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;GPCR signaling-G alpha s Epac and ERK;Cellular responses to external stimuli;GPCR signaling-G alpha s PKA and ERK;Glucocorticoid receptor regulatory network;JAK STAT pathway and regulation;G alpha (i) signalling events;GPCR signaling-G alpha i;GPCR downstream signalling;Regulation of nuclear beta catenin signaling and target gene transcription;LPA receptor mediated events;IL8- and CXCR1-mediated signaling events;Calcineurin-regulated NFAT-dependent transcription in lymphocytes;AP-1 transcription factor network;Validated transcriptional targets of AP1 family members Fra1 and Fra2;IL8- and CXCR2-mediated signaling events;Syndecan-2-mediated signaling events;Syndecan-3-mediated signaling events
(Consensus)
Recessive Scores
- pRec
- 0.908
Intolerance Scores
- loftool
- rvis_EVS
- -0.21
- rvis_percentile_EVS
- 38.28
Haploinsufficiency Scores
- pHI
- 0.569
- hipred
- N
- hipred_score
- 0.276
- ghis
- 0.535
Essentials
- essential_gene_CRISPR
- essential_gene_CRISPR2
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- gene_indispensability_score
Zebrafish Information Network
- Gene name
- cxcl8b.1
- Affected structure
- intersegmental vessel
- Phenotype tag
- abnormal
- Phenotype quality
- morphology
Gene ontology
- Biological process
- angiogenesis;response to molecule of bacterial origin;chemotaxis;inflammatory response;immune response;cell cycle arrest;signal transduction;G protein-coupled receptor signaling pathway;negative regulation of cell population proliferation;regulation of signaling receptor activity;cytokine-mediated signaling pathway;calcium-mediated signaling;regulation of cell adhesion;neutrophil chemotaxis;leukocyte chemotaxis;receptor internalization;response to endoplasmic reticulum stress;intracellular signal transduction;PERK-mediated unfolded protein response;neutrophil activation;cellular response to fibroblast growth factor stimulus;regulation of single stranded viral RNA replication via double stranded DNA intermediate;negative regulation of G protein-coupled receptor signaling pathway;positive regulation of angiogenesis;embryonic digestive tract development;induction of positive chemotaxis;antimicrobial humoral immune response mediated by antimicrobial peptide;chemokine-mediated signaling pathway;cellular response to lipopolysaccharide;cellular response to interleukin-1;cellular response to tumor necrosis factor;positive regulation of neutrophil chemotaxis;regulation of entry of bacterium into host cell
- Cellular component
- extracellular region;extracellular space
- Molecular function
- interleukin-8 receptor binding;protein binding;chemokine activity