ANKRD28
Chr 3ankyrin repeat domain 28
Also known as: CFAP79, FAP79, PITK, PPP1R65
ANKRD28 encodes a regulatory subunit of protein phosphatase 6 (PP6) that controls dephosphorylation of various substrates including NFKBIE, MOB1, and HNRPK, and also selectively inhibits protein phosphatase 1C (PPP1C). The gene is highly constrained against loss-of-function variants (pLI 1.0, LOEUF 0.17), suggesting mutations would likely cause severe developmental disorders. However, no specific disease associations or inheritance patterns have been established for this gene.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
221 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 | 22 | 0 | 22 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 141 | 2 | 0 | 143 |
Likely Benign | 0 | 3 | 4 | 10 | 17 |
Benign | 1 | 0 | 0 | 0 | 1 |
| Total | 1 | 144 | 29 | 10 | 184 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ANKRD28 · 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 →External Resources
Links to major genomics databases and tools