Ensembl is currently experiencing issues
The Ensembl REST API is temporarily unavailable. Some gene data (transcript details, protein domains) may be incomplete. Other data sources are unaffected.
You can check Ensembl's status at status.ensembl.org
IDMYS
Chr 12ARATP binding cassette subfamily C member 9
Also known as: ABC37, ATFB12, CANTU, CMD1O, IDMYS, SUR2
This gene encodes an ATP-binding cassette transporter that forms ATP-sensitive potassium channels in cardiac, skeletal, and smooth muscle tissues. Biallelic mutations cause intellectual disability and myopathy syndrome, an autosomal recessive condition affecting both the nervous system and muscle function. The syndrome involves developmental delays and muscle weakness due to disrupted potassium channel function in multiple tissue types.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/IDMYS?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
IDMYS · 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