ANXA8
Chr 10annexin A8
Also known as: ANX8, CH17-360D5.2
The protein functions as an anticoagulant by indirectly inhibiting the thromboplastin-specific complex in the blood coagulation cascade. Based on the available information, no established Mendelian disease has been definitively associated with ANXA8 mutations in pediatric patients. While overexpression has been linked to acute myelocytic leukemia, pathogenic germline variants causing inherited disease have not been well-characterized for this gene.
Population Genetics & Constraint
Constraint data not available from gnomAD.
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function 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
126 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 | 33 | 0 | 33 |
Likely Pathogenic | 0 | 0 | 17 | 0 | 17 |
VUS | 0 | 1 | 19 | 0 | 20 |
Likely Benign | 0 | 4 | 3 | 0 | 7 |
Benign | 0 | 2 | 44 | 1 | 47 |
| Total | 0 | 7 | 116 | 1 | 124 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ANXA8 · 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