Free for academic non-profit institutions. Other users need a Commercial license
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 Downstream signaling events of B Cell Receptor (BCR) and Signaling by GPCR. 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:0005654 | nucleoplasm | IDA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005783 | endoplasmic reticulum | IDA | -- |
GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
GO:0005886 | plasma membrane | IDA | 10828023 |
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
.30
|
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 | 1141 | ||
Caffeine | Approved | Pharma | Target, inhibitor | 648 | ||
Inositol 2,4,5-trisphosphate | Experimental | Pharma | 0 | |||
myo-Inositol 1,4,5-trisphosphate | Experimental | Pharma | 0 | |||
adenophostin A | Pharma | Activator | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Ins(2,4,5)P<sub>3</sub> |
|
Activator |
|
|
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 |
---|---|---|---|---|---|
981913 | Uncertain Significance: Intellectual disability | 26,716,227(-) |
T/C NM_002223.4(ITPR2):c.541A>G (p.Lys181Glu) |
MISSENSE | |
rs1472511761 | Likely Benign: not provided | 26,621,159(-) |
C/T NM_002223.4(ITPR2):c.3426G>A (p.Gly1142=) |
SYNONYMOUS | |
rs150957410 | Benign: not provided | 26,656,473(-) |
C/G NM_002223.4(ITPR2):c.2268G>C (p.Leu756=) |
SYNONYMOUS | |
rs1592005842 | Likely Benign: not provided | 26,658,135(-) |
C/A NM_002223.4(ITPR2):c.1887-5G>T |
INTRON | |
rs181236465 | Benign: not provided | 26,832,707(-) |
G/A NM_002223.4(ITPR2):c.75C>T (p.Gly25=) |
SYNONYMOUS |
Disorder | Aliases | PubMed IDs |
---|---|---|
anhidrosis, isolated, with normal sweat glands |
|
|
anhidrosis |
|
|
gillespie syndrome |
|
|
miliaria profunda |
|
|
miliaria crystallina |
|
|