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

Also Known as IP3R; CMT1J; IP3R3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3710

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	References	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	References	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	References	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

ITPR3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ITPR3	Q14573	TRPC3	Homo sapiens	Q13507	Anti Tag CoIP	10611319
Intra	ITPR3	Q14573	TRPC3	Homo sapiens	Q13507	Pull Down	10611319

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06993	ITPR3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21604	Itpr3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28122	Itpr3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	ITPR3	NCBI