TM9SF2
Chr 13transmembrane 9 superfamily member 2
Also known as: Lnc-PCIR, P76
The protein functions as a channel or small molecule transporter in intracellular compartments, particularly localizing to early endosomes. Mutations cause autosomal recessive intellectual disability with behavioral abnormalities and craniofacial dysmorphism. This gene is highly constrained against loss-of-function variants, suggesting complete loss of protein function is likely pathogenic.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Highly missense-constrained (top ~0.1%)
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TM9SF2 · 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