PHF24
Chr 9PHD finger protein 24
Also known as: GINIP
PHF24 encodes a transcriptional corepressor that negatively regulates gene transcription and is predicted to be involved in GABAergic synaptic transmission and pain perception pathways. The gene is highly constrained against loss-of-function variants (LOEUF 0.56), but no definitive human disease associations have been established for PHF24 mutations. Additional clinical and molecular studies are needed to determine the inheritance pattern and phenotypic spectrum associated with this gene.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The highest-scoring mechanism for this gene is gain-of-function.
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
PHF24 · 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