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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
inositol 1,4,5-trisphosphate receptor type 2
Summary
- Gene Symbol
-
- ITPR2
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- ATP-binding
- Alternative splicing
- Calcium channel
- Cytoplasmic vesicle
- Disease variant
- Endoplasmic reticulum
- Ligand-gated ion channel
- Metal-binding
- Phosphoprotein
- Receptor
- Reference proteome
- Repeat
- Transmembrane helix
- Zinc
- Proteins
| UniProt | Protein Name |
|---|---|
| Q14571 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| response to hypoxia | ||
| calcium-mediated signaling | ||
| cellular response to cAMP | ||
| cellular response to ethanol | ||
| release of sequestered calcium ion into cytosol |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| sarcoplasmic reticulum membrane | ||
| secretory granule membrane | ||
| membrane | ||
| transport vesicle membrane | ||
| cell cortex |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity | ||
| calcium ion transmembrane transporter activity | ||
| phosphatidylinositol binding | ||
| transmembrane transporter binding | ||
| ATP binding |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- Ryanodine receptor
- Functional Category
-
- E: Amino acid transport and metabolism
- P: Inorganic ion transport and metabolism
- T: Signal transduction mechanisms
| InterPro |
|---|
| Ryanodine/Inositol 1,4,5-trisphosphate receptor |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0060603 | isolated anhidrosis with normal sweat glands | |
| DOID:10591 | pre-eclampsia | |
| DOID:11714 | gestational diabetes | |
| DOID:1441 | autosomal dominant cerebellar ataxia | |
| DOID:332 | amyotrophic lateral sclerosis | |
| DOID:9970 | obesity |
Ortholog
| Species | Gene ID | OrthoDB | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|---|
| 16439 | MGI:99418 | MOUSE48493 | ||
| 40664 | FB:FBgn0010051 | |||
| 81678 | RGD:69649 | RATNO31872 | ||
| 177546 | WB:WBGene00002173 | |||
| 281878 | BOVIN30066 | |||
| 473389 | 9598_0:003739 | PANTR06252 | ||
| 486628 | CANLF10963 | |||
| 562585 | ZFIN:ZDB-GENE-050419-192 | |||
| 708714 | MACMU03919 | |||
| 100010212 | MONDO33439 |
