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LGMDR12
Chr 11ARanoctamin 5
Also known as: GDD1, LGMD2L, LGMDR12, TMEM16E
This gene encodes a calcium-activated chloride channel belonging to the anoctamin family of transmembrane proteins. Mutations cause gnathodiaphyseal dysplasia, a rare skeletal disorder affecting jaw and long bone development with autosomal dominant inheritance. The condition primarily involves the musculoskeletal system with characteristic bone fragility and distinctive radiographic features.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/LGMDR12?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
LGMDR12 · 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 →No open access results found
External Resources
Links to major genomics databases and tools