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The protein encoded by this gene belongs to the inositol 1,4,5-triphosphate receptor family, whose members are second messenger intracellular calcium release channels. These proteins mediate a rise in cytoplasmic calcium in response to receptor activated production of inositol triphosphate. Inositol triphosphate receptor-mediated signaling is involved in many processes including cell migration, cell division, smooth muscle contraction, and neuronal signaling. This protein is a type 2 receptor that consists of a cytoplasmic amino-terminus that binds inositol triphosphate, six membrane-spanning helices that contribute to the ion pore, and a short cytoplasmic carboxy-terminus. A mutation in this gene has been associated with anhidrosis, suggesting that intracellular calcium release mediated by this protein is required for eccrine sweat production. [provided by RefSeq, Apr 2015]
ITPR2 (Inositol 1,4,5-Trisphosphate Receptor Type 2) is a Protein Coding gene. Diseases associated with ITPR2 include Anhidrosis, Isolated, With Normal Sweat Glands and Anhidrosis. Among its related pathways are DAG and IP3 signaling and Translation Translation regulation by Alpha-1 adrenergic receptors. Gene Ontology (GO) annotations related to this gene include binding and phosphatidylinositol binding. An important paralog of this gene is ITPR1.
Inositol 1,4,5-trisphosphate (IP3) receptors are a form of ligand-gated ion channels that are activated by cytosolic Ca2+ and IP3. They are localized to intracellular membranes, such as the endoplasmic reticulum, and mediate the mobilization of intracellular Ca2+ stores.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005216 | ion channel activity | IEA | -- |
GO:0005220 | inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity | TAS,ISS | -- |
GO:0005262 | calcium channel activity | IEA | -- |
GO:0005509 | calcium ion binding | IBA | 21873635 |
GO:0015085 | calcium ion transmembrane transporter activity | TAS | 8081734 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005623 | cell | IEA | -- |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005783 | endoplasmic reticulum | IDA | -- |
GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | RET signaling |
.92
|
|
2 | Development Angiotensin activation of ERK |
Development ACM2 and ACM4 activation of ERK
.73
Development Angiotensin activation of ERK
.73
Development Angiotensin signaling via PYK2
.68
Development G-Proteins mediated regulation MARK-ERK signaling
.65
|
Development EDNRB signaling
.54
Development EPO-induced MAPK pathway
.48
Cell adhesion Integrin inside-out signaling
.45
Signal transduction IP3 signaling
.40
|
3 | DAG and IP3 signaling |
Signal transduction Calcium signaling
.35
|
|
4 | fMLP Pathway |
CCR3 Pathway in Eosinophils
.44
fMLP Pathway
.43
Signal transduction Activation of PKC via G-Protein coupled receptor
.42
|
CXCR4 Pathway
.39
Alpha-Adrenergic Signaling
.38
Huntington's Disease Pathway
.31
|
5 | Development Endothelin-1/EDNRA signaling |
Development Endothelin-1/EDNRA signaling
.41
Development Endothelin-1/EDNRA transactivation of EGFR
.41
Cytoskeleton remodeling FAK signaling
.41
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001666 | response to hypoxia | IDA | 19120137 |
GO:0006811 | ion transport | IEA | -- |
GO:0006816 | calcium ion transport | IEA | -- |
GO:0007165 | signal transduction | TAS | 8081734 |
GO:0030168 | platelet activation | TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Heparin | Approved, Investigational | Pharma | Antagonist, cofactor | 1058 | ||
Caffeine | Approved | Pharma | Antagonist, Activator, Target, inhibitor | 603 | ||
Inositol 2,4,5-trisphosphate | Experimental | Pharma | 0 | |||
adenophostin A | Pharma | Activator | 0 | |||
Ca<sup>2+</sup> | Pharma | Activator, Agonist, Full agonist, Inhibitor, Antagonist, Channel blocker | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Ins(2,4,5)P<sub>3</sub> |
|
Activator |
|
|
||
Inositol 1,4,5-trisphosphate |
|
88269-39-0 |
|
Compound | Action | Cas Number |
---|---|---|
2-APB | IP3 receptor antagonist. Also TRP channel modulator | 524-95-8 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ITPR2 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ITPR2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Dog (Canis familiaris) |
Mammalia | ITPR2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ITPR2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Itpr2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Itpr2 30 |
|
||
Chicken (Gallus gallus) |
Aves | ITPR2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ITPR2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | itpr2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | itpr2 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Itp-r83A 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | itr-1 31 32 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.2722 30 |
|
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
709610 | Benign: not provided | 26,550,237(-) | A/T | INTRON_VARIANT | |
710133 | Likely Benign: not provided | 26,628,081(-) | T/C | MISSENSE_VARIANT | |
711573 | Likely Benign: not provided | 26,622,378(-) | G/A | SYNONYMOUS_VARIANT | |
712106 | Benign: not provided | 26,556,235(-) | C/T | SYNONYMOUS_VARIANT | |
714176 | Conflicting Interpretations: not provided | 26,602,630(-) | C/T | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
anhidrosis, isolated, with normal sweat glands |
|
|
anhidrosis |
|
|
gillespie syndrome |
|
|
miliaria profunda |
|
|
hemochromatosis, type 1 |
|
|