MAP7D2
Chr XMAP7 domain containing 2
The MAP7D2 protein stabilizes microtubules and serves as a critical cofactor for kinesin transport, regulating kinesin-1 recruitment to microtubules and contributing to axonal transport. Mutations cause autosomal recessive developmental and epileptic encephalopathy with microcephaly, presenting in infancy with seizures, severe developmental delay, and progressive microcephaly. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.478), consistent with its role in critical neuronal transport processes.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Tolerant to missense variation
The highest-scoring mechanism for this gene is dominant-negative.
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
300 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 | 94 | 0 | 94 |
Likely Pathogenic | 0 | 0 | 6 | 0 | 6 |
VUS | 0 | 105 | 12 | 0 | 117 |
Likely Benign | 1 | 11 | 1 | 0 | 13 |
Benign | 0 | 0 | 0 | 1 | 1 |
Conflicting | — | 1 | |||
| Total | 1 | 116 | 113 | 1 | 232 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MAP7D2 · 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