ITPR3 Chromosome 6
Inositol 1,4,5-trisphosphate receptor type 3
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What This Gene Does
This gene encodes a receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium. The receptor contains a calcium channel at the C-terminus and the ligand-binding site at the N-terminus. Knockout studies in mice suggest that type 2 and type 3 inositol 1,4,5-trisphosphate receptors play a key role in exocrine secretion underlying energy metabolism and growth. [provided by RefSeq, Aug 2010]
Gene Info
Gene Group
"Inositol 1,4,5-triphosphate receptors|Protein phosphatase 1 regulatory subunits"
Locus Type
gene with protein product
Location
6p21.31
Ensembl
ENSG00000096433
Associated Conditions (5)
Charcot-Marie-Tooth disease
demyelinating
type 1J
ITPR3-related disorder
Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy
Key Variants
RS1237600471
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease, demyelinating, type 1J
Health Risk
RS139957730
Conflicting classifications of pathogenicity
Health Risk
RS144737770
Conflicting classifications of pathogenicity
Health Risk
RS200180514
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease, demyelinating, type 1J
Health Risk
RS200382899
Conflicting classifications of pathogenicity
Health Risk
RS201031155
Conflicting classifications of pathogenicity
Health Risk
RS2533186607
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease, demyelinating, type 1J
Health Risk
RS2533046082
Pathogenic
Charcot-Marie-Tooth disease, demyelinating, type 1J
Health Risk
RS1561875704
Pathogenic/Likely pathogenic
Charcot-Marie-Tooth disease, demyelinating, type 1J
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1237600471 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, demyelinating, type 1J |
| RS139957730 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS144737770 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200180514 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, demyelinating, type 1J |
| RS200382899 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201031155 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2533186607 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, demyelinating, type 1J |
| RS2533046082 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, demyelinating, type 1J |
| RS1561875704 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease, demyelinating, type 1J |