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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 includin... See more...
Aliases for ITPR2 Gene
Aliases for ITPR2 Gene
External Ids for ITPR2 Gene
- HGNC: 6181
- Entrez Gene: 3709
- Ensembl: ENSG00000123104
- OMIM: 600144
- UniProtKB: Q14571
Previous GeneCards Identifiers for ITPR2 Gene
- GC12M026850
- GC12M026502
- GC12M026390
- GC12M026381
- GC12M026377
- GC12M026258
Summaries for ITPR2 Gene
-
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]
GeneCards Summary for ITPR2 Gene
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.
UniProtKB/Swiss-Prot Summary for ITPR2 Gene
-
Receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium. This release is regulated by cAMP both dependently and independently of PKA (By similarity).
-
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.
Additional gene information for ITPR2 Gene
- HGNC(6181)
- Entrez Gene(3709)
- Ensembl(ENSG00000123104)
- OMIM(600144)
- UniProtKB(Q14571)
- Open Targets Platform(ENSG00000123104)
- Monarch Initiative
- Search for ITPR2 at DataMed
- Search for ITPR2 at HumanCyc
No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ITPR2 Gene
Genomics for ITPR2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for ITPR2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around ITPR2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ITPR2
- Top Transcription factor binding sites by QIAGEN in the ITPR2 gene promoter:
-
- C/EBPalpha
- CBF(2)
- CBF-A
- CBF-B
- CBF-C
- CP1A
- CP1C
- FOXO4
- LUN-1
- SRY
Genomic Locations for ITPR2 Gene
Genomic Locations for ITPR2 Gene
- chr12:26,335,352-26,833,197
- (GRCh38/hg38)
- Size:
- 497,846 bases
- Orientation:
- Minus strand
- chr12:26,488,285-26,986,131
- (GRCh37/hg19)
- Size:
- 497,847 bases
- Orientation:
- Minus strand
Genomic View for ITPR2 Gene
Genes around ITPR2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12p11.23 by HGNC
- 12p11.23 by Entrez Gene
- 12p11.23 by Ensembl
ITPR2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ITPR2 Gene
Proteins for ITPR2 Gene
-
Protein details for ITPR2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q14571-ITPR2_HUMAN
- Recommended name:
- Inositol 1,4,5-trisphosphate receptor type 2
- Protein Accession:
- Q14571
- O94773
Protein attributes for ITPR2 Gene
- Size:
- 2701 amino acids
- Molecular mass:
- 308064 Da
- Quaternary structure:
-
- Homotetramer (By similarity). Interacts with CABP1 (PubMed:12032348). Interacts with BOK; regulates ITPR2 expression (By similarity).
- Miscellaneous:
-
- Calcium appears to inhibit ligand binding to the receptor, most probably by interacting with a distinct calcium-binding protein which then inhibits the receptor.
Protein Expression for ITPR2 Gene
Post-translational modifications for ITPR2 Gene
- Phosphorylation by cAMP-dependent PKA on Ser-937 increases calcium release.
-
Ubiquitination at Lys909 and Lys1589
- NX_Q14571 (NX_Q14571-1)
- Modification sites at PhosphoSitePlus
Other Protein References for ITPR2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- HUABIO ITPR2 Antibody (ER1803-65)
-
Custom Antibody ServicesOriGene Antibodies for ITPR2
- Novus Biologicals Antibodies for ITPR2
-
Abcam antibodies for ITPR2
- Invitrogen Antibodies for ITPR2 (AFLGC-ITPR2)
- antibodies-online: Show 10 available ITPR2 Antibodies ranked by validation data
- Compare Top ITPR2 Antibodies
-
Recommended
- 10 WB Antibodies (anti-mouse)
- 1 IHC (fro) Antibody (anti-mouse)
- 1 IHC Antibody (anti-mouse)
- 1 IHC (p) Antibody (anti-mouse)
- 12 WB Antibodies (anti-rat)
- 1 IHC (fro) Antibody (anti-rat)
- 1 IHC Antibody (anti-rat)
- 1 IHC (p) Antibody (anti-rat)
- 12 WB Antibodies (anti-human)
- 4 IHC Antibodies (anti-human)
- 2 IHC (p) Antibodies (anti-human)
- 1 IF Antibody (anti-human)
- 1 IHC (fro) Antibody (anti-human)
-
Santa Cruz Biotechnology (SCBT) Antibodies for ITPR2
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for ITPR2
- Origene Custom Protein Services for ITPR2
- Novus Biologicals proteins for ITPR2
-
Abcam proteins for ITPR2
No data available for DME Specific Peptides for ITPR2 Gene
Domains & Families for ITPR2 Gene
Gene Families for ITPR2 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for ITPR2 Gene
- InterPro:
- Blocks:
-
- Intracellular calcium-release channel
- MIR domain
- RyR and IP3R Homology associated
- Inositol 1,4,5-trisphosphate-binding protein receptor signature
- ProtoNet:
Suggested Antigen Peptide Sequences for ITPR2 Gene
- GenScript: Design optimal peptide antigens:
-
- Type 2 inositol 1,4,5-trisphosphate receptor (ITPR2_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q14571UniProtKB/Swiss-Prot:
ITPR2_HUMAN :- The receptor contains a calcium channel in its C-terminal extremity. Its large N-terminal cytoplasmic region has the ligand-binding site in the N-terminus and modulatory sites in the middle portion immediately upstream of the channel region.
- Belongs to the InsP3 receptor family.
- Domain:
-
- The receptor contains a calcium channel in its C-terminal extremity. Its large N-terminal cytoplasmic region has the ligand-binding site in the N-terminus and modulatory sites in the middle portion immediately upstream of the channel region.
- Family:
-
- Belongs to the InsP3 receptor family.
Function for ITPR2 Gene
Molecular function for ITPR2 Gene
- UniProtKB/Swiss-Prot Function:
- Receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium. This release is regulated by cAMP both dependently and independently of PKA (By similarity).
- GENATLAS Biochemistry:
- inositol 1,4,5-triphosphate receptor,type 2,coexpressed with RYR3 in neurons and smooth muscle cells forming heterotetrameric channel with ITPR1 and ITPR3,involved in mobilization from the endoplastic reticulum,highly sensitive to IP3,required for long lasting,regular Ca++ oscillations,transcriptionally regulated during myelopoiesis target of EVI-1 and EVI1-VP16 fusion gene
Phenotypes From GWAS Catalog for ITPR2 Gene
| 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 |
Phenotypes for ITPR2 Gene
- MGI mutant phenotypes for ITPR2:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for ITPR2:
Animal Model Products
-
Taconic Biosciences Mouse Models for ITPR2
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ITPR2 - Select products 50% OFF >
- * ITPR2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ITPR2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ITPR2
-
Santa Cruz Biotechnology (SCBT) CRISPR for ITPR2
miRNA for ITPR2 Gene
- miRTarBase miRNAs that target ITPR2
-
- hsa-miR-335-5p (MIRT016967)
- hsa-miR-935 (MIRT036656)
- hsa-miR-877-3p (MIRT036984)
- hsa-miR-324-5p (MIRT043084)
- hsa-miR-324-3p (MIRT721888)
- hsa-miR-1913 (MIRT721889)
- hsa-miR-187-3p (MIRT721890)
- hsa-miR-3667-3p (MIRT721891)
- hsa-miR-6734-3p (MIRT721892)
- hsa-miR-6747-3p (MIRT721893)
- hsa-miR-6727-3p (MIRT721894)
- hsa-miR-4722-3p (MIRT721895)
- hsa-miR-6752-3p (MIRT721896)
- hsa-miR-4793-5p (MIRT721897)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ITPR2
- Browse OriGene Inhibitory RNA Products For ITPR2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ITPR2
Clone Products
- Applied Biological Materials (abm): Clones for ITPR2 - Select products 50% OFF >
- * ITPR2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ITPR2
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ITPR2 Gene
Localization for ITPR2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ITPR2 Gene
- Endoplasmic reticulum membrane. Multi-pass membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| endoplasmic reticulum | 5 |
| nucleus | 4 |
| extracellular | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| cytosol | 2 |
| peroxisome | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Endoplasmic reticulum (3)
- Nucleoplasm (1)
| 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 | -- |
Pathways & Interactions for ITPR2 Gene
| 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
|
|
Pathways by source for ITPR2 Gene
3 BioSystems pathways for ITPR2 Gene
49 Reactome pathways for ITPR2 Gene
43 KEGG pathways for ITPR2 Gene
41 GeneGo (Thomson Reuters) pathways for ITPR2 Gene
- Cell adhesion Integrin inside-out signaling
- CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)
- Cytoskeleton remodeling FAK signaling
- Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation
- Development A1 receptor signaling
47 Qiagen pathways for ITPR2 Gene
- Activation of cAMP-Dependent PKA
- Activation of PKA through GPCR
- Activation of PKC through GPCR
- Alpha-Adrenergic Signaling
- BDNF Pathway
Interacting Proteins for ITPR2 Gene
Selected Interacting proteins:
Q14571-ITPR2_HUMAN
ENSP00000370744
for ITPR2 Gene via
MINT
STRING
IID
GPS-Prot Interaction Network for ITPR2
| 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 | -- |
No data available for SIGNOR curated interactions for ITPR2 Gene
Drugs & Compounds for ITPR2 Gene
| 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 |
|
(1) Tocris Compounds for ITPR2 Gene
| Compound | Action | Cas Number |
|---|---|---|
| 2-APB | IP3 receptor antagonist. Also TRP channel modulator | 524-95-8 |
Transcripts for ITPR2 Gene
mRNA/cDNA for ITPR2 Gene
- 1 REFSEQ mRNAs :
- 15 NCBI additional mRNA sequence :
- 10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000242737 581 nts (view in UCSC)
- ENST00000381340 12564 nts (view in UCSC)
- ENST00000451599 2577 nts (view in UCSC)
- ENST00000536627 569 nts (view in UCSC)
- ENST00000538984 586 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ITPR2 - Select products 50% OFF >
- * ITPR2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ITPR2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ITPR2
-
Santa Cruz Biotechnology (SCBT) CRISPR for ITPR2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ITPR2
- Browse OriGene Inhibitory RNA Products For ITPR2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ITPR2
Clone Products
- Applied Biological Materials (abm): Clones for ITPR2 - Select products 50% OFF >
- * ITPR2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ITPR2
Relevant External Links for ITPR2 Gene
- GeneLoc Exon Structure for
- ITPR2
Expression for ITPR2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Ovary (Reproductive System)
- Pre-Granulosa Cells Primordial Follicle
- Ovarian Mesenchymal Stroma Cells Ovary Interstitium
- Brain (Nervous System)
This gene is overexpressed in Peripheral blood mononuclear cells (20.2) and Rectum (8.5).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ITPR2 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ITPR2
SOURCE GeneReport for Unigene cluster for ITPR2 Gene:
Hs.512235mRNA Expression by UniProt/SwissProt for ITPR2 Gene:
Q14571-ITPR2_HUMAN
Tissue specificity:
Isoform Short is found in skeletal muscle and heart.
Evidence on tissue expression from TISSUES for ITPR2 Gene
- Liver(4.7)
- Heart(4.6)
- Nervous system(3.6)
- Blood(3)
- Eye(2.9)
- Pancreas(2.7)
- Kidney(2.7)
- Muscle(2.6)
- Adrenal gland(2.4)
- Spleen(2.2)
- Skin(2.2)
- Lung(2.1)
- Stomach(2.1)
- Intestine(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for ITPR2 Gene
Germ Layers:
- ectoderm
Systems:
- integumentary
- nervous
Regions:
General:
- skin
- sweat gland
Primer Products
-
OriGene qPCR primer pairs for ITPR2
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues for ITPR2 Gene
Orthologs for ITPR2 Gene
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 |
|
- Species where no ortholog for ITPR2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for ITPR2 Gene
- ENSEMBL:
- Gene Tree for ITPR2 (if available)
- TreeFam:
- Gene Tree for ITPR2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ITPR2: view image
Paralogs for ITPR2 Gene
Variants for ITPR2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ITPR2 Gene
| 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 |
Residual Variation Intolerance Score:
0.663% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
5.26;
70.21% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ITPR2 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ITPR2 Gene
Disorders for ITPR2 Gene
(5) MalaCards diseases for ITPR2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| anhidrosis, isolated, with normal sweat glands |
|
|
| anhidrosis |
|
|
| gillespie syndrome |
|
|
| miliaria profunda |
|
|
| hemochromatosis, type 1 |
|
|
Search ITPR2 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
ITPR2_HUMAN- Anhidrosis, isolated, with normal sweat glands (ANHD) [MIM:106190]: An autosomal recessive disorder characterized by generalized, isolated anhidrosis, severe heat intolerance, and morphologically normal eccrine sweat glands. Body growth, teeth, hair, nails, and skin are normal. {ECO:0000269 PubMed:25329695}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for ITPR2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for ITPR2 Gene
Publications for ITPR2 Gene
- ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study. (PMID: 17827064) van Es MA … van den Berg LH (The Lancet. Neurology 2007) 3 23 41
- Cloning and characterization of human type 2 and type 3 inositol 1,4,5-trisphosphate receptors. (PMID: 8081734) Yamamoto-Hino M … Hasegawa M (Receptors & channels 1994) 2 3 4
- Abolished InsP3R2 function inhibits sweat secretion in both humans and mice. (PMID: 25329695) Klar J … Dahl N (The Journal of clinical investigation 2014) 3 4
- No evidence of association of FLJ10986 and ITPR2 with ALS in a large German cohort. (PMID: 19464757) Fernández-Santiago R … Gasser T (Neurobiology of aging 2011) 3 41
- Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41
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Products for ITPR2 Gene
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- antibodies-online: Show 10 available ITPR2 Antibodies ranked by validation data
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