JPH3

JPH3
Identifiers
Aliases	JPH3, CAGL237, HDL2, JP-3, JP3, TNRC22, junctophilin 3
External IDs	MGI: 1891497 HomoloGene: 10762 GeneCards: JPH3
Gene location (Human) Chr. Chromosome 16 (human) Band 16q24.2 Start 87,601,835 bp End 87,698,156 bp
Gene location (Mouse) Chr. Chromosome 8 (mouse) Band 8|8 E1 Start 121,729,623 bp End 121,794,276 bp
RNA expression pattern More reference expression data
Gene ontology Molecular function • calcium-release channel activity Cellular component • plasma membrane • endoplasmic reticulum • endoplasmic reticulum membrane • membrane • junctional sarcoplasmic reticulum membrane • junctional membrane complex • integral component of membrane Biological process • regulation of neuronal synaptic plasticity • release of sequestered calcium ion into cytosol • calcium ion transport into cytosol • memory • learning • exploration behavior • locomotion • neuromuscular process controlling balance • regulation of ryanodine-sensitive calcium-release channel activity Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	57338	57340
Ensembl	ENSG00000154118	ENSMUSG00000025318
UniProt	Q8WXH2	Q9ET77
RefSeq (mRNA)	NM_001271604 NM_001271605 NM_020655	NM_020605
RefSeq (protein)	NP_001258533 NP_001258534 NP_065706	NP_065630
Location (UCSC)	Chr 16: 87.6 – 87.7 Mb	Chr 16: 121.73 – 121.79 Mb
PubMed search

57338

57340

ENSG00000154118

ENSMUSG00000025318

Q8WXH2

Q9ET77

NM_001271604
NM_001271605
NM_020655

NM_020605

NP_001258533
NP_001258534
NP_065706

NP_065630

Junctophilin-3 is a protein that in humans is encoded by the JPH3 gene.

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. CAG/CTG repeat expansions at the Huntington's disease (HD)-like 2 locus have been identified in this gene, which is a member of the junctophilin gene family.

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