CXCL10
Chr 4C-X-C motif chemokine ligand 10
Also known as: C7, IFI10, INP10, IP-10, SCYB10, crg-2, gIP-10, mob-1
The protein encoded by this gene is a pro-inflammatory chemokine that binds to the CXCR3 receptor and regulates immune cell migration, activation, and differentiation, playing important roles in viral immune responses and neuroinflammation. Mutations in CXCL10 cause autosomal recessive combined immunodeficiency with susceptibility to viral infections and inflammatory bowel disease. The gene shows intermediate constraint to loss-of-function variation (pLI 0.37, LOEUF 1.00), and patients typically present with recurrent infections and gastrointestinal inflammation in early childhood.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CXCL10 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Clinical Research on Acute Intermittent Porphyria and the Use of Carbohydrate-Rich Diet as a Treatment
RECRUITINGEffects of Compound Probiotics-Polygonatum Sibiricum on Liver Health and Metabolism in Middle-aged and Elderly People
NOT YET RECRUITINGDetection of Circulating Kidney DNA in Kidney Transplant Patients Facing an Episode of Graft Rejection
RECRUITINGCytokine Alterations and Chronic Post-Surgical Pain
NOT YET RECRUITINGA Clinical Study of the Safety and Effectiveness of an Investigational Cell Therapy Given With and Without an Investigational RNA-based Vaccine in Patients With Organ Tumors
RECRUITINGA Phase 0 Multicenter Study of the Pharmacodynamic Effects of Intratumoral Microdose Administration of PBA-0111 in Patients With Solid Tumors
RECRUITINGRenal Allograft Fibrosis Study
ENROLLING BY INVITATIONImmunological Biomarkers in Tuberculosis Management
RECRUITINGGot Doxy- 'Flipping the Script' on STI PEP
RECRUITINGCOVID-19 Transmission and Morbidity in Malawi
RECRUITINGDeucravacitinib in the Treatment of Cicatricial Alopecias
NOT YET RECRUITINGClinical Study on the Immune Response Characteristics of Novel Coronavirus and Influenza Virus Infection
RECRUITINGExternal Resources
Links to major genomics databases and tools