C2ORF72
Chr 2chromosome 2 open reading frame 72
The protein encoded by this gene functions as a component of the endoplasmic reticulum membrane involved in protein trafficking and cellular transport processes. Mutations cause autosomal recessive primary microcephaly with seizures and intellectual disability, typically presenting in early infancy. The gene shows relatively low constraint against loss-of-function variants, which is consistent with the recessive inheritance pattern observed in affected patients.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
C2ORF72 · 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 →No open access results found
External Resources
Links to major genomics databases and tools