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IMD133
Chr 6ADinositol 1,4,5-trisphosphate receptor type 3
Also known as: CMT1J, IMD132, IMD133, IP3R, IP3R-3, IP3R3
This gene encodes a receptor for inositol 1,4,5-trisphosphate that mediates intracellular calcium release through its calcium channel. Mutations cause immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy, affecting multiple organ systems including immune function, skin and its appendages, and potentially the peripheral nervous system. The condition follows an autosomal dominant inheritance pattern.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/IMD133?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
IMD133 · 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 publications found for IMD133
External Resources
Links to major genomics databases and tools