FRMPD2
Chr 10FERM and PDZ domain containing 2
Also known as: PDZD5C, PDZK4, PDZK5C
The protein encoded by this gene functions as a scaffold protein involved in NMDA receptor-mediated synaptic transmission and regulation of tight junction formation, while also playing roles in synapse formation in cone photoreceptor cells. Mutations cause autosomal recessive intellectual disability with epilepsy and abnormal behavior, typically presenting in early childhood. This gene shows minimal constraint against loss-of-function variants based on population genetics data.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
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
293 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 | 37 | 0 | 37 |
Likely Pathogenic | 0 | 0 | 21 | 0 | 21 |
VUS | 0 | 165 | 29 | 0 | 194 |
Likely Benign | 0 | 16 | 3 | 8 | 27 |
Benign | 0 | 2 | 2 | 0 | 4 |
| Total | 0 | 183 | 92 | 8 | 283 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
FRMPD2 · 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