ITPR3 - inositol 1,4,5-trisphosphate receptor type 3 Gene

Homo sapiens

Also known as IP3R; CMT1J; IP3R3

Gene ID: 3710 | Gene type: protein coding

About ITPR3

Cytogenetic location: 6p21.31 Genomic coordinates (GRCh38): 6:33,621,322-33,696,562 (from NCBI)

This gene has 2 transcripts (splice variants), 227 orthologues, 5 paralogues and is associated with 1 phenotype. Broad expression in thyroid (RPKM 29.7), skin (RPKM 28.2) and 22 other tissues.

Summary

This gene encodes a receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium. The receptor contains a Calcium Channel at the C-terminus and the ligand-binding site at the N-terminus. Knockout studies in mice suggest that type 2 and type 3 inositol 1,4,5-trisphosphate receptors play a key role in exocrine secretion underlying energy metabolism and growth. [provided by RefSeq, Aug 2010]

ITPR3 Products(1)

mRNA	Protein	Name
NM_002224.4	NP_002215.2	inositol 1,4,5-trisphosphate receptor type 3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables inositol 1,4,5 trisphosphate binding	IDA IDA: Inferred from direct assay	8288584	GOA
enables inositol 1,4,5-trisphosphate-gated calcium channel activity	IDA IDA: Inferred from direct assay	10828023	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10611319	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in calcium ion homeostasis	IMP IMP: Inferred from mutant phenotype	32949214	GOA
involved in platelet activation	IDA IDA: Inferred from direct assay	10828023	GOA
involved in protein homotetramerization	IDA IDA: Inferred from direct assay	37898605	GOA
involved in response to calcium ion	IDA IDA: Inferred from direct assay	19052258	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	21062895	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	10828023	GOA
part of receptor complex	IDA IDA: Inferred from direct assay	23382219	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

ITPR3 Protein Structure

Ins145_P3_rec

MIR

RYDR_ITPR

RIH_assoc

Ion_trans

0
500
1000
1500
2000
2500
2671 a.a.

Protein Preferred Names

Protein Names

inositol 1,4,5-trisphosphate receptor type 3

IP3 receptor

Related Diseases

Diseases

Alias

Type 1 Diabetes Mellitus

Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus Type 1
IDDM	Type 1 Diabetes
Insulin-Dependent Diabetes Mellitus	T1D
Juvenile-Onset Diabetes	Jod
Diabetes Mellitus, Type 1	Diabetes Mellitus, Insulin-Dependent-1
Type I Diabetes Mellitus	Autoimmune Diabetes
Juvenile Diabetes	Juvenile-Onset Diabetes Mellitus
Diabetes, Insulin Dependent	Insulin-Dependent Diabetes Mellitus-1
Diabetes Mellitus Insulin-Dependent	Diabetes Autoimmune
Diabetes Mellitus, Insulin-Dependent, Susceptibility To	Diabetes Mellitus, Type 1, Susceptibility To
Diabetes Type 1	Type I Diabetes
Diabetes, Autoimmune	T1dm - [Type 1 Diabetes Mellitus]
Iddm - [Insulin Dependent Diabetes Mellitus]	Type 1 Iddm
Juvenile Diabetes Mellitus Without Compications	Idiopathic Insulin-Dependent Diabetes Mellitus Without Complications
Juvenile-Onset Diabetes Mellitus Without Compications	Ketosis-Prone Diabetes Mellitus Without Compications
Juvenile-Onset-Type Diabetes Mellitus Without Compications

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

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

Amyotrophic Lateral Sclerosis 16, Juvenile

Amyotrophic Lateral Sclerosis Type 16	ALS16
Amyotrophic Lateral Sclerosis 16	Sclerosis, Lateral, Amyotrophic, Type 16, Juvenile

Immunodeficiency 10

Immune Dysfunction With T-Cell Inactivation Due To Calcium Entry Defect 2	Combined Immunodeficiency Due To Stim1 Deficiency
IMD10	Stim1 Deficiency
Cid Due To Stim1 Deficiency	Immune Dysfunction, With T-Cell Inactivation Due To Calcium Entry Defect 2
Immunodeficiency, Type 10

T Cell And Nk Cell Immunodeficiency

Wolfram Syndrome 2

WFS2

Cerebral Palsy, Ataxic, Autosomal Recessive

Ataxic Cerebral Palsy	Acp
Hypotonic Cerebral Palsy	Cerebral Palsy Ataxic
Cerebral Palsy, Atonic	Congenital Cerebral Palsy With Ataxia
Ataxic Cerebral Paralysis	Ataxia With Cerebral Palsy
Cerebral Infantile Diataxia

Charcot-Marie-Tooth Disease

Cmt	Hmsn
Hereditary Motor And Sensory Neuropathy	Pma
Cmt - Charcot-Marie-Tooth Disease	Charcot Marie Tooth Disease
Charcot-Marie-Tooth Hereditary Neuropathy	Charcot-Marie-Tooth Syndrome
Peroneal Muscular Atrophy	Hereditary Motor And Sensory Neuropathies

Malignant Hyperthermia

Anesthesia Related Hyperthermia	Malignant Hyperpyrexia Due To Anesthesia
Hyperpyrexia, Malignant	Hyperthermia, Malignant
Malignant Hyperpyrexia	Mhs
Malignant Fever

Autosomal Dominant Polycystic Kidney Disease

Polycystic Kidney Disease, Adult Type	Adpkd
Polycystic Kidney Diseases	Polycystic Kidney, Autosomal Dominant
Congenital Biliary Ectasias	Polycystic Kidney And Hepatic Disease 1
Polycystic Kidney Disease, Autosomal Dominant	Kidney, Polycystic, Disease, Autosomal Dominant
Adult Polycystic Kidney Disease	Polycystic Kidney, Adult Type
Apckd - [Autosomal Polycystic Kidney Disease]

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia	Hereditary Spastic Paraparesis
Strumpell-Lorrain Disease	Familial Spastic Paraparesis
Hsp	Spg
Strümpell-Lorrain Disease	Spastic Paraplegia, Hereditary
French Settlement Disease	Strumpell-Lorrain Syndrome
Fsp	Spastic Paraplegia, Familial
Spastic Paraplegia Hereditary	Spastic Paraplegia 3, Autosomal Dominant
Spastic Paraparesis	Hereditary Spastic Paralysis
Familial Spastic Paralysis	Hereditary Spastic Ataxia

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis	ALS
Lou Gehrig Disease	Amyotrophic Lateral Sclerosis Type 1
Charcot Disease	ALS1
Amyotrophic Lateral Sclerosis, Susceptibility To	Fals
Lou Gehrig'S Disease	Mnd
Motor Neuron Disease	Familial Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 1, Familial	Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
Motor Neuron Disease, Bulbar	Motor Neurone Disease
Amyotrophic Lateral Sclerosis With Dementia	Dementia With Amyotrophic Lateral Sclerosis
Motor Neuron Disease, Amyotrophic Lateral Sclerosis	Sclerosis, Lateral, Amyotrophic
Sclerosis, Lateral, Amyotrophic, Type 1	Amyotrophic Sclerosis
Als - [Amyotrophic Lateral Sclerosis]	Wasting Palsy
Amyotrophic Paralysis	Amyotrophy Lateral Sclerosis
Wasting Paralysis	Spinal Progressive Amyotrophy
Progressive Atrophic Paralysis

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-RS06993	ITPR3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	ITPR3	VGNC	VGNC:30348
Rattus norvegicus	ITPR3	RGD	RGD:2934
Felis catus	ITPR3	VGNC	VGNC:67871
Mus musculus	ITPR3	MGD	MGI:96624
Canis familiaris	ITPR3	VGNC	VGNC:42159

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