PDLIM7
Chr 5PDZ and LIM domain 7
Also known as: LMP1, LMP3
The protein contains PDZ and LIM domains that function as a scaffold for protein assembly, with the PDZ domain binding actin filaments and LIM domains binding protein kinases to coordinate cytoskeletal interactions and signaling pathways including BMP6 signaling essential for bone formation. Mutations cause autosomal recessive peripheral neuropathy with or without impaired intellectual development, affecting both the nervous system and skeletal development. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.425), indicating evolutionary intolerance to complete protein loss.
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
168 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 | 51 | 0 | 51 |
Likely Pathogenic | 0 | 0 | 5 | 0 | 5 |
VUS | 0 | 69 | 11 | 0 | 80 |
Likely Benign | 0 | 1 | 1 | 2 | 4 |
Benign | 0 | 0 | 1 | 5 | 6 |
| Total | 0 | 70 | 69 | 7 | 146 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PDLIM7 · 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
Autologous/Allogeneic TGFbeta-resistant LMP-specific CTL, Lymphoma (TGF-beta)
ACTIVE NOT RECRUITINGPembrolizumab and Olaparib in Recurrent/Metastatic, Platinum Resistant Nasopharyngeal Cancer
RECRUITINGLMP1 CAR-T for Patients With LMP1 Positive Infectious Diseases and Hematological Malignancies
NOT YET RECRUITINGExternal Resources
Links to major genomics databases and tools