Jph2 junctophilin 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Jph2provided by MGI
Official Full Name: junctophilin 2provided by MGI
Primary source: MGI:MGI:1891496
See related: Ensembl:ENSMUSG00000017817 AllianceGenome:MGI:1891496
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: Jp2; JP-2; 1110002E14Rik
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 several structures, including genitourinary system; heart; liver; skeletal muscle; and spleen. Human ortholog(s) of this gene implicated in dilated cardiomyopathy 2E and hypertrophic cardiomyopathy 17. Orthologous to human JPH2 (junctophilin 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in heart adult (RPKM 70.1), bladder adult (RPKM 48.2) and 10 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 H3; 2 84.22 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (163178162..163239969, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (163336242..163398049, complement)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Junctophilin-2 is a double-stranded RNA-binding protein that regulates cardiomyocyte-autonomous innate immune response.
Title: Junctophilin-2 is a double-stranded RNA-binding protein that regulates cardiomyocyte-autonomous innate immune response.
Targeting calpain-2-mediated junctophilin-2 cleavage delays heart failure progression following myocardial infarction.
Title: Targeting calpain-2-mediated junctophilin-2 cleavage delays heart failure progression following myocardial infarction.
Altered myocardial lipid regulation in junctophilin-2-associated familial cardiomyopathies.
Title: Altered myocardial lipid regulation in junctophilin-2-associated familial cardiomyopathies.
Reduction in Junctophilin 2 Expression in Cardiac Nodal Tissue Results in Intracellular Calcium-Driven Increase in Nodal Cell Automaticity.
Title: Reduction in Junctophilin 2 Expression in Cardiac Nodal Tissue Results in Intracellular Calcium-Driven Increase in Nodal Cell Automaticity.
NMR resonance assignments of the DNA binding domain of mouse Junctophilin-2.
Title: NMR resonance assignments of the DNA binding domain of mouse Junctophilin-2.
SERCA2a ameliorates cardiomyocyte T-tubule remodeling via the calpain/JPH2 pathway to improve cardiac function in myocardial ischemia/reperfusion mice.
Title: SERCA2a ameliorates cardiomyocyte T-tubule remodeling via the calpain/JPH2 pathway to improve cardiac function in myocardial ischemia/reperfusion mice.
Nuclear localization of a novel calpain-2 mediated junctophilin-2 C-terminal cleavage peptide promotes cardiomyocyte remodeling.
Title: Nuclear localization of a novel calpain-2 mediated junctophilin-2 C-terminal cleavage peptide promotes cardiomyocyte remodeling.
Junctophilin-2 expression rescues atrial dysfunction through polyadic junctional membrane complex biogenesis.
Title: Junctophilin-2 expression rescues atrial dysfunction through polyadic junctional membrane complex biogenesis.
junctophilin-2 maintains functional coupling between type 2 ryanodine receptors and Ca2+-activated K+ (BK) channels and is critically important for cerebral arterial function
Title: Nanoscale coupling of junctophilin-2 and ryanodine receptors regulates vascular smooth muscle cell contractility.
Junctophilin 2, as junctional membrane complex (JMC) protein, is an important regulator of the cardiac SK channels
Title: Functional interaction of Junctophilin 2 with small- conductance Ca(2+) -activated potassium channel subtype 2(SK2) in mouse cardiac myocytes.

Submit: New GeneRIF Correction See all GeneRIFs (28)

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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Markers

21.MMHAP57FLG3.seq (e-PCR)
- UniSTS:123527

RH130464 (e-PCR)
- UniSTS:213748

RH140922 (e-PCR)
- UniSTS:213748

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables core promoter sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidic acid binding	ISO Inferred from Sequence Orthology more info
enables phosphatidic acid binding	ISS Inferred from Sequence or Structural Similarity more info
enables phosphatidylinositol-3,4,5-trisphosphate binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol-3,4,5-trisphosphate binding	ISS Inferred from Sequence or Structural Similarity more info
enables phosphatidylinositol-3,5-bisphosphate binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol-3,5-bisphosphate binding	ISS Inferred from Sequence or Structural Similarity more info
enables phosphatidylinositol-3-phosphate binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol-3-phosphate binding	ISS Inferred from Sequence or Structural Similarity more info
enables phosphatidylinositol-4,5-bisphosphate binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol-4,5-bisphosphate binding	ISS Inferred from Sequence or Structural Similarity more info
enables phosphatidylinositol-4-phosphate binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol-4-phosphate binding	ISS Inferred from Sequence or Structural Similarity more info
enables phosphatidylinositol-5-phosphate binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol-5-phosphate binding	ISS Inferred from Sequence or Structural Similarity more info
enables phosphatidylserine binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylserine binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in calcium ion homeostasis	IEA Inferred from Electronic Annotation more info
involved_in calcium ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of cytosolic calcium ion concentration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of ryanodine-sensitive calcium-release channel activity	ISO Inferred from Sequence Orthology more info
involved_in regulation of cardiac muscle tissue development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Z disc	IDA Inferred from Direct Assay more info	PubMed
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
part_of junctional membrane complex	IBA Inferred from Biological aspect of Ancestor more info
part_of junctional membrane complex	IMP Inferred from Mutant Phenotype more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
is_active_in sarcoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in sarcoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in sarcoplasmic reticulum	TAS Traceable Author Statement more info	PubMed
located_in sarcoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: junctophilin-2

Names: junctophilin type 2

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.

mRNA and Protein(s)

NM_001205076.1 → NP_001192005.1 junctophilin-2

See identical proteins and their annotated locations for NP_001192005.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AL589876

Consensus CDS

CCDS17008.1

UniProtKB/Swiss-Prot

Q3U077, Q9ET78, Q9ET79

Related

ENSMUSP00000105052.3, ENSMUST00000109425.3

Conserved Domains (2) summary

PLN03185
Location:4 → 143

PLN03185; phosphatidylinositol phosphate kinase; Provisional

PHA03307
Location:442 → 643

PHA03307; transcriptional regulator ICP4; Provisional
NM_021566.2 → NP_067541.1 junctophilin-2

See identical proteins and their annotated locations for NP_067541.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AB024447, AL589876

Consensus CDS

CCDS17008.1

UniProtKB/Swiss-Prot

Q3U077, Q9ET78, Q9ET79

Related

ENSMUSP00000017961.5, ENSMUST00000017961.11

Conserved Domains (2) summary

PLN03185
Location:4 → 143

PLN03185; phosphatidylinositol phosphate kinase; Provisional

PHA03307
Location:442 → 643

PHA03307; transcriptional regulator ICP4; Provisional

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000068.8 Reference GRCm39 C57BL/6J

Range

163178162..163239969 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006499972.3 → XP_006500035.1 junctophilin-2 isoform X1

See identical proteins and their annotated locations for XP_006500035.1

UniProtKB/Swiss-Prot

Q3U077, Q9ET78, Q9ET79

Conserved Domains (2) summary

PLN03185
Location:4 → 143

PLN03185; phosphatidylinositol phosphate kinase; Provisional

PHA03307
Location:442 → 643

PHA03307; transcriptional regulator ICP4; Provisional