JPH2

JPH2
Identifiers
Aliases	JPH2, CMH17, JP-2, JP2, junctophilin 2, CMD2E
External IDs	OMIM: 605267; MGI: 1891496; HomoloGene: 10714; GeneCards: JPH2; OMA:JPH2 - orthologs
Gene location (Human)
Chr.	Chromosome 20 (human)
End	44,187,188 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	163,239,913 bp
RNA expression pattern
	Top expressed in
	myocardium of left ventricle; ; Skeletal muscle tissue of rectus abdominis; ; tibialis anterior muscle; ; cardiac muscle tissue of right atrium; ; muscle of thigh; ; Skeletal muscle tissue of biceps brachii; ; apex of heart; ; quadriceps femoris muscle; ; vastus lateralis muscle; ; popliteal artery;
	Top expressed in
	muscle of thigh; ; triceps brachii muscle; ; sternocleidomastoid muscle; ; temporal muscle; ; skeletal muscle tissue; ; ankle; ; digastric muscle; ; interventricular septum; ; myocardium of ventricle; ; extraocular muscle;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	phosphatidic acid binding; phosphatidylinositol-4-phosphate binding; phosphatidylinositol-5-phosphate binding; phosphatidylserine binding; phosphatidylinositol-3,4,5-trisphosphate binding; protein binding; phosphatidylinositol-3,5-bisphosphate binding; phosphatidylinositol-4,5-bisphosphate binding; phosphatidylinositol-3-phosphate binding; calcium-release channel activity; DNA binding;
Cellular component	integral component of membrane; sarcoplasmic reticulum; sarcoplasmic reticulum membrane; junctional membrane complex; membrane; endoplasmic reticulum; plasma membrane; junctional sarcoplasmic reticulum membrane; Z discdkac; endoplasmic reticulum membrane; nucleus;
Biological process	regulation of cardiac muscle tissue development; calcium ion transport into cytosol; positive regulation of cytosolic calcium ion concentration; positive regulation of ryanodine-sensitive calcium-release channel activity; calcium ion homeostasis; regulation of ryanodine-sensitive calcium-release channel activity; release of sequestered calcium ion into cytosol; multicellular organism development;
	Sources:Amigo / QuickGO
Orthologs
	57158
	59091
	ENSG00000149596
	ENSMUSG00000017817
	Q9BR39
	Q9ET78
	NM_020433; NM_175913
	NM_001205076; NM_021566; NM_197984
	NP_065166; NP_787109
	NP_001192005; NP_067541
	Wikidata
View/Edit Human	View/Edit Mouse

Junctophilin 2, also known as JPH2, is a protein which in humans is encoded by the JPH2 gene. Alternative splicing has been observed at this locus and two variants encoding distinct isoforms are described.