JPH2 - junctophilin 2 Gene

Also Known as JP2; JP-2; CMD2E; CMH17

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 57158

About JPH2

Cytogenetic location: 20q13.12 Genomic coordinates (GRCh38): 20:44,106,590-44,187,188 (from NCBI)

This gene has 2 transcripts (splice variants), 218 orthologues, 3 paralogues and is associated with 3 phenotypes. Biased expression in heart (RPKM 14.9), prostate (RPKM 9.1) and 11 other tissues.

Summary

Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. This gene is a member of the junctophilin gene family. Alternative splicing has been observed at this locus and two variants encoding distinct isoforms are described. [provided by RefSeq, Jul 2008]

JPH2 Products (2)

mRNA	Protein	Name
NM_020433.5	NP_065166.2	junctophilin-2 isoform 1
NM_175913.4	NP_787109.2	junctophilin-2 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables phosphatidic acid binding	IDA IDA: Inferred from direct assay	24001019	GOA
enables phosphatidylinositol-3,4,5-trisphosphate binding	IDA IDA: Inferred from direct assay	24001019	GOA
enables phosphatidylinositol-3,5-bisphosphate binding	IDA IDA: Inferred from direct assay	24001019	GOA
enables phosphatidylinositol-3-phosphate binding	IDA IDA: Inferred from direct assay	24001019	GOA
enables phosphatidylinositol-4,5-bisphosphate binding	IDA IDA: Inferred from direct assay	24001019	GOA
enables phosphatidylinositol-4-phosphate binding	IDA IDA: Inferred from direct assay	24001019	GOA
enables phosphatidylinositol-5-phosphate binding	IDA IDA: Inferred from direct assay	24001019	GOA
enables phosphatidylserine binding	IDA IDA: Inferred from direct assay	24001019	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	20095964	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in calcium ion homeostasis	IDA IDA: Inferred from direct assay	20095964	GOA
involved in positive regulation of ryanodine-sensitive calcium-release channel activity	IDA IDA: Inferred from direct assay	20095964	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in nucleus	IDA IDA: Inferred from direct assay	30409805	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

JPH2 Protein Structure

MORN

0
200
400
600
696 a.a.

Protein Preferred Names	Protein Names
junctophilin-2	junctophilin type 2

JPH2 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P86928	Junctophilin-2 Antibody (YA6621)	WB, IHC-P	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Cardiomyopathy, Familial Hypertrophic, 17	Hypertrophic Cardiomyopathy 17 CMH17 Cardiomyopathy, Hypertrophic, 17 Cardiomyopathy Familial Hypertrophic 17 Cardiomyopathy, Familial Hypertrophic 17 Cardiomyopathy, Hypertrophic, Familial, Type 17
Cardiomyopathy, Dilated, 2e	CMD2E Dilated Cardiomyopathy 2e Cardiomyopathy, Dilated 2e
Cardiomyopathy, Familial Hypertrophic, 1	Asymmetric Septal Hypertrophy Familial Hypertrophic Cardiomyopathy Hypertrophic Cardiomyopathy 1 CMH1 Hypertrophic Cardiomyopathy 19 CMH Ventricular Hypertrophy, Hereditary Ash Hypertrophic Subaortic Stenosis, Idiopathic Cardiomyopathy, Familial Hypertrophic Cardiomyopathy, Hypertrophic, 1, Digenic Cardiomyopathy, Familial Hypertrophic 1 Hcm Hereditary Ventricular Hypertrophy Idiopathic Hypertrophic Subaortic Stenosis Hypertrophic Cardiomyopathy Cardiomyopathy, Hypertrophic, Familial Cardiomyopathy, Hypertrophic, 1 Familial Asymmetric Septal Hypertrophy Heritable Hypertrophic Cardiomyopathy Fhc Cardiomyopathy, Hypertrophic, Familial, Type 1
Periodontosis	Periodontitis, Juvenile Parodontosis Paradentosis
Dilated Cardiomyopathy	Familial Dilated Cardiomyopathy Primary Dilated Cardiomyopathy Idiopathic Dilated Cardiomyopathy Congestive Cardiomyopathy Idiopathic Dilation Cardiomyopathy Primary Familial Dilated Cardiomyopathy Cardiomyopathy, Dilated DCM Cardiomyopathy, Familial Dilated Dilated Cardiomyopathy, Familial Hypokinetic Dilated Cardiomyopathy, Familial Familial Idiopathic Cardiomyopathy Fdc Cardiomyopathy, Familial Idiopathic Idiopathic Cardiomegaly Dilated Congestive Cardiomyopathy Chronic Dilated Cardiomyopathy Ccm - [Congestive Cardiomyopathy] Cocm - [Congestive Cardiomyopathy] Dcm - [Dilated Cardiomyopathy] Dilated-Hypokinetic Cardiomyopathy Congestive Idiopathic Cardiomyopathy Primary Idiopathic Dilated Cardiomyopathy
Hypertrophic Cardiomyopathy	Hypertrophic Obstructive Cardiomyopathy Cardiomyopathy, Hypertrophic Cardiomyopathy Hypertrophic Obstructive Cardiomyopathy, Hypertrophic, Familial Idiopathic Myocardial Hypertrophy Idiopathic Hypertrophic Cardiomyopathy Obstructive Idiopathic Hypertrophic Cardiomyopathy Obstructive Cardiomyopathy Idiopathic Hypertrophic Subaortic Stenosis Muscular Subaortic Stenosis Hypertrophic Obstructive Subaortic Stenosis
Huntington Disease-Like 2	HDL2 Huntington'S Disease-Like 2 Huntington Disease-Like, Type 2
Catecholaminergic Polymorphic Ventricular Tachycardia	Cpvt Catecholamine-Induced Polymorphic Ventricular Tachycardia Familial Polymorphic Ventricular Tachycardia Malignant Paroxysmal Ventricular Tachycardia Multifocal Ventricular Premature Beats Stress-Induced Polymorphic Ventricular Tachycardia Bidirectional Tachycardia Induced By Catecholamine Double Tachycardia Induced By Catecholamines Polymorphic Catecholergic Ventricular Tachycardia Syncopal Paroxysmal Tachycardia Bidirectional Tachycardia Induced By Catecholamines Fpvt Bidirectional Ventricular Tachycardia Induced By Catecholamine Polymorphic Ventricular Tachycardia Induced By Catecholamines Ventricular Tachycardia, Catecholaminergic Polymorphic Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 Familial Ventricular Tachycardia Multifocal Pvcs Multifocal Premature Ventricular Beats
Left Ventricular Noncompaction	Noncompaction Cardiomyopathy Left Ventricular Hypertrabeculation Lvnc Spongy Myocardium Isolated Noncompaction Of The Ventricular Myocardium Left Ventricular Myocardial Noncompaction Cardiomyopathy Fetal Myocardium Honeycomb Myocardium Hypertrabeculation Syndrome Left Ventricular Non-Compaction Lvht Non-Compaction Of The Left Ventricular Myocardium Ventricular Noncompaction, Left Non-Compaction Cardiomyopathy
Familial Atrial Fibrillation	Atrial Fibrillation, Familial Atfb Atrial Fibrillation Autosomal Dominant Autosomal Dominant Atrial Fibrillation Auricular Fibrillation Atrial Fibrillation Atrial Fibrillation, Familial, 1
Brugada Syndrome	Sudden Unexpected Nocturnal Death Syndrome Sudden Unexplained Nocturnal Death Syndrome Bangungut Brugada Type Idiopathic Ventricular Fibrillation Pokkuri Death Syndrome Sunds Idiopathic Ventricular Fibrillation, Brugada Type Sudden Unexplained Death Dream Disease Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome Sudden Unexplained Death Syndrome Suds Sunds - [Sudden Unexplained Nocturnal Death Syndrome]

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07046	JPH2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	JPH2	VGNC	VGNC:30381
Mus musculus	JPH2	MGD	MGI:1891496
Canis familiaris	JPH2	VGNC	VGNC:54651
Macaca mulatta	JPH2	VGNC	VGNC:84918
Felis catus	JPH2	VGNC	VGNC:109568
Rattus norvegicus	JPH2	RGD	RGD:1305196
Others	JPH2	NCBI