Jph3 junctophilin 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Jph3provided by MGI
Official Full Name: junctophilin 3provided by MGI
Primary source: MGI:MGI:1891497
See related: Ensembl:ENSMUSG00000025318 AllianceGenome:MGI:1891497
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Jp3; JP-3
Summary: Involved in several processes, including exploration behavior; regulation of neuronal synaptic plasticity; and regulation of ryanodine-sensitive calcium-release channel activity. Acts upstream of or within learning; locomotion; and neuromuscular process controlling balance. Located in endoplasmic reticulum membrane and plasma membrane. Part of junctional membrane complex. Is expressed in brain; ganglia; retina; spinal cord; and testis. Human ortholog(s) of this gene implicated in Huntington's disease-like 2. Orthologous to human JPH3 (junctophilin 3). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in cortex adult (RPKM 46.6), cerebellum adult (RPKM 35.8) and 5 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 E1; 8 70.73 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (122457298..122517822)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (121730559..121791083)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Junctophilin Proteins Tether a Cav1-RyR2-KCa3.1 Tripartite Complex to Regulate Neuronal Excitability.
Title: Junctophilin Proteins Tether a Cav1-RyR2-KCa3.1 Tripartite Complex to Regulate Neuronal Excitability.
The expression of JPH isoforms was examined in human and mouse pancreatic tissues, and JPH3 expression was found in both the beta cells.
Title: Junctophilin 3 expresses in pancreatic beta cells and is required for glucose-stimulated insulin secretion.
Gene expression was slightly altered in the JP-3 and JP-4 Knockout cerebellum.
Title: Abnormal features in mutant cerebellar Purkinje cells lacking junctophilins.
Motor discoordination in mutant mice lacking junctophilin type 3
Title: Motor discoordination in mutant mice lacking junctophilin type 3.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Process	Evidence Code	Pubs
involved_in exploration behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within learning	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within locomotion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in memory	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuromuscular process controlling balance	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within regulation of neuronal synaptic plasticity	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of neuronal synaptic plasticity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of ryanodine-sensitive calcium-release channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of synaptic plasticity	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
part_of junctional membrane complex	IBA Inferred from Biological aspect of Ancestor more info
part_of junctional membrane complex	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	TAS Traceable Author Statement more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: junctophilin-3

Names: junctophilin type 3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.