XAGE1B
Chr XX antigen family member 1B
Also known as: CT12.1, CT12.1C, CT12.1D, CT12.1E, CT12.1b, CTP9, GAGED2, XAGE-1
The protein encoded by this gene belongs to the cancer-testis antigen family and contains a nuclear localization signal, with normal expression primarily in testis and fetal tissues but abnormal expression in various tumors including Ewing's sarcoma and alveolar rhabdomyosarcoma. The provided information does not describe any pediatric neurological diseases or inheritance patterns associated with mutations in this gene.
Population Genetics & Constraint
Constraint data not available from gnomAD.
This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
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
XAGE1B · 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
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools