CXCL8

C-X-C motif chemokine ligand 8, the group of Interleukins|Chemokine ligands

Basic information

Region (hg38): 4:73740518-73743716

Previous symbols: [ "IL8" ]

Links

ENSG00000169429 ∙ NCBI:3576 ∙ OMIM:146930 ∙ HGNC:6025 ∙ Uniprot:P10145 ∙ 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 CXCL8 gene.

• not provided (2 variants)
• Inborn genetic diseases (2 variants)

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		1
missense			2			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: gnomAD

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: dbNSFP

• 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

• 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_gene_trap: N

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