ITPR2 - inositol 1,4,5-trisphosphate receptor type 2 Gene

Homo sapiens

Also known as ANHD; IP3R2; CFAP48; INSP3R2

Gene ID: 3709 | Gene type: protein coding

About ITPR2

Cytogenetic location: 12p11.23 Genomic coordinates (GRCh38): 12:26,335,352-26,833,194 (from NCBI)

This gene has 10 transcripts (splice variants), 215 orthologues, 5 paralogues and is associated with 2 phenotypes. Ubiquitous expression in liver (RPKM 15.0), kidney (RPKM 7.5) and 25 other tissues.

Summary

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 Products(3)

mRNA	Protein	Name
NM_001414174.1	NP_001401103.1	inositol 1,4,5-trisphosphate receptor type 2 isoform 2
NM_001414175.1	NP_001401104.1	inositol 1,4,5-trisphosphate receptor type 2 isoform 3
NM_002223.4	NP_002214.2	inositol 1,4,5-trisphosphate receptor type 2 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables inositol 1,4,5-trisphosphate-gated calcium channel activity	IMP IMP: Inferred from mutant phenotype	25329695	GOA
enables scaffold protein binding	IPI IPI: Inferred from physical interaction	11782428	GOA
enables transmembrane transporter binding	IPI IPI: Inferred from physical interaction	18068335	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in response to hypoxia	IDA IDA: Inferred from direct assay	19120137	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in plasma membrane	IDA IDA: Inferred from direct assay	10828023	GOA
part of receptor complex	IDA IDA: Inferred from direct assay	23382219	GOA
located in sarcoplasmic reticulum membrane	IMP IMP: Inferred from mutant phenotype	10828023	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ITPR2 Protein Structure

Ins145_P3_rec

MIR

RYDR_ITPR

RIH_assoc

Ion_trans

0
500
1000
1500
2000
2500
2701 a.a.

Protein Preferred Names

Protein Names

inositol 1,4,5-trisphosphate receptor type 2

IP3 receptor

Related Diseases

Diseases

Alias

Anhidrosis, Isolated, With Normal Sweat Glands

Isolated Anhidrosis With Normal Sweat Glands	Dann-Epstein-Sohar Syndrome
ANHD	Isolated Generalized Anhidrosis With Normal Sweat Glands
Anhidrosis, Familial Generalized, With Normal Sweat Glands

Anhidrosis

Hypohidrosis	Absence Of Sweating
Adiaphoresis	Impaired Sweating
Oligohidrosis

Gillespie Syndrome

GLSP	Aniridia, Cerebellar Ataxia And Mental Deficiency
Aniridia Cerebellar Ataxia Mental Deficiency	Aniridia, Cerebellar Ataxia, And Mental Retardation
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome	Aniridia-Cerebellar Ataxia-Intellectual Disability
Aniridia-Cerebellar Ataxia-Mental Deficiency	Partial Aniridia-Cerebellar Ataxia-Oligophrenia
Aniridia, Cerebellar Ataxia, And Intellectual Disability

Hemochromatosis, Type 1

Hemochromatosis	Hemochromatosis Type 1
Hereditary Hemochromatosis	Hh
HFE1	Hfe Hemochromatosis, Modifier Of
Symptomatic Form Of Classic Hemochromatosis	Symptomatic Form Of Hemochromatosis Type 1
Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis	Haemochromatosis
Iron Storage Disorder	Bronze Diabetes
Hereditary Haemochromatosis	Hlah
Hfe	Hemochromatosis, Hereditary
Diabetes Bronze	Classic Hemochromatosis
Hfe-Associated Hereditary Hemochromatosis	Hemochromatosis Classic
Bronzed Cirrhosis	Familial Hemochromatosis
Genetic Hemochromatosis	Hc
Pigmentary Cirrhosis	Primary Hemochromatosis
Troisier-Hanot-Chauffard Syndrome	Von Recklenhausen-Applebaum Disease
Hemochromatosis 1	Primary Hereditary Hemochromatosis
Bronze Cirrhosis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06992	ITPR2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	ITPR2	VGNC	VGNC:73805
Felis catus	ITPR2	VGNC	VGNC:67870
Mus musculus	ITPR2	MGD	MGI:99418
Bos taurus	ITPR2	VGNC	VGNC:30347
Canis familiaris	ITPR2	VGNC	VGNC:42158
Rattus norvegicus	ITPR2	RGD	RGD:69649

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