Inositol 1,4,5-trisphosphate-gated calcium channel that upon inositol 1,4,5-trisphosphate binding transports calcium from the endoplasmic reticulum lumen to cytoplasm (PubMed:25329695). Exists in two states; a long-lived closed state where the channel is essentially 'parked' with only very rare visits to an open state and that ligands facilitate the transition from the 'parked' state into a 'drive' mode represented by periods of bursting activity (By similarity).
Anhidrosis, isolated, with normal sweat glands
ANHD
An autosomal recessive disorder characterized by generalized, isolated anhidrosis, severe heat intolerance, and morphologically normal eccrine sweat glands. Body growth, teeth, hair, nails, and skin are normal.
None
The disease is caused by variants affecting the gene represented in this entry.
Phosphorylation by cAMP-dependent PKA on Ser-937 increases calcium release.
Phosphorylation by CaMK2 on Ser-150 significantly decreases the channel open probability.
Belongs to the InsP3 receptor family.
Isoform Short
Found in skeletal muscle and heart.
IP3 receptor isoform 2, IP3R 2, InsP3R2, Type 2 InsP3 receptor, ITPR2
Proteins
Neuroscience
308064Da
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