CDKN2AIP
Chr 4CDKN2A interacting protein
Also known as: XTBD2
The protein regulates DNA damage response through multiple signaling pathways involved in cell proliferation, apoptosis and senescence, including the p53-HDM2-p21 pathway. Mutations cause familial melanoma-pancreatic cancer syndrome, characterized by increased susceptibility to melanoma and pancreatic adenocarcinoma with autosomal dominant inheritance. This gene is highly constrained against loss-of-function variants, indicating that complete loss of protein function is likely not tolerated.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
198 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 90 | 0 | 90 |
Likely Pathogenic | 0 | 0 | 8 | 0 | 8 |
VUS | 0 | 88 | 6 | 0 | 94 |
Likely Benign | 0 | 0 | 0 | 1 | 1 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 88 | 104 | 1 | 193 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CDKN2AIP · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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 →External Resources
Links to major genomics databases and tools