ITPR3

Chr 6p21.31

inositol 1,4,5-trisphosphate receptor type 3

Aliases:: IP3R3
MANE:: ENST00000605930.3

OMIM: 147267 ↗NCBI: 3710 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

ITPR3 · Q14573

v62025-08-01

Predicted Aligned Error matrix for ITPR3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

73.4/ 100

Confident

2,671 residues

Confidence breakdown

Very high(≥ 90)3%
Confident(70–90)71%
Low(50–70)13%
Very low(< 50)13%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Hereditary neuropathy or pain disorder
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

Charcot-Marie-Tooth disease, demyelinating, type 1J
0.66
immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy
0.48
type 1 diabetes mellitus
0.45
chronic hepatitis B virus infection
0.41
combined immunodeficiency
0.38
rheumatoid arthritis
0.37
severe combined immunodeficiency
0.37
smoking cessation
0.33
hypothyroidism
0.31
asthma
0.31

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Inositol 1,4,5-trisphosphate-gated calcium channel ITPR3

Inositol 1,4,5-trisphosphate-gated calcium channel that, upon 1D-myo-inositol 1,4,5-trisphosphate binding, transports calcium from the endoplasmic reticulum lumen to cytoplasm, thus releasing the intracellular calcium and therefore participates in cellular calcium ion homeostasis (PubMed:32949214, PubMed:37898605, PubMed:8081734, PubMed:8288584, PubMed:39560673). 1D-myo-inositol 1,4,5-trisphosphate binds to the ligand-free channel without altering its global conformation, yielding the low-energy resting state, then progresses through resting-to preactivated transitions to the higher energy preactivated state, which increases affinity for calcium, promoting binding of the low basal cytosolic calcium at the juxtamembrane domain (JD) site, favoring the transition through the ensemble of high-energy intermediate states along the trajectory to the fully-open activated state (PubMed:30013099, PubMed:35301323, PubMed:37898605). Upon opening, releases calcium in the cytosol where it can bind to the low-affinity cytoplasmic domain (CD) site and stabilizes the inhibited state to terminate calcium release (PubMed:30013099, PubMed:35301323, PubMed:37898605)