Jph2 - junctophilin 2 Gene

Also Known as Jp2; JP-2; 1110002E14Rik

Species: Mus musculus

Gene Type: protein coding

Gene ID: 59091

Summary

Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and core promoter sequence-specific DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II and regulation of cardiac muscle tissue development. Acts upstream of or within positive regulation of cytosolic calcium ion concentration. Located in several cellular components, including Z disc; nucleus; and sarcoplasmic reticulum. Part of junctional membrane complex. Is expressed in heart; lung; skeletal muscle; and stomach. Human ortholog(s) of this gene implicated in dilated cardiomyopathy and hypertrophic cardiomyopathy 17. Orthologous to human JPH2 (junctophilin 2). [provided by Alliance of Genome Resources, Apr 2022]

Jph2 Products (2)

mRNA	Protein	Name
NM_001205076.1	NP_001192005.1	junctophilin-2
NM_021566.2	NP_067541.1	junctophilin-2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	30409805	MGI
enables core promoter sequence-specific DNA binding	IDA IDA: Inferred from direct assay	30409805	MGI
enables protein binding	IPI IPI: Inferred from physical interaction	15541368	MGI

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	30409805	MGI
involved in negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	30409805	MGI
acts upstream of or within positive regulation of cytosolic calcium ion concentration	IMP IMP: Inferred from mutant phenotype	10949023	MGI
involved in regulation of cardiac muscle tissue development	IMP IMP: Inferred from mutant phenotype	10949023	MGI

Cellular Component GO Annotation	Evidence	References	Source
located in Z disc	IDA IDA: Inferred from direct assay	10949023	MGI
part of junctional membrane complex	IMP IMP: Inferred from mutant phenotype	10949023	MGI
located in membrane	IDA IDA: Inferred from direct assay	15541368	MGI
located in nucleus	IDA IDA: Inferred from direct assay	30409805	MGI
located in sarcoplasmic reticulum	IDA IDA: Inferred from direct assay	10949023	MGI

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

Protein Preferred Names	Protein Names
junctophilin-2	junctophilin type 2

Jph2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Cross	Jph2	Q9ET78	TRPC3	Oryctolagus cuniculus	G1U2U3	Anti Bait CoIP	19277847

Cross: Cross-species interaction Intra: Intraspecies interaction

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
Homo sapiens	Jph2	NCBI	NCBI:57158