Jph2 junctophilin 2 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Jph2provided by RGD
Official Full Name: junctophilin 2provided by RGD
Primary source: RGD:1305196
See related: EnsemblRapid:ENSRNOG00000008170 AllianceGenome:RGD:1305196
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary: Predicted to enable DNA-binding transcription repressor activity, RNA polymerase II-specific; core promoter sequence-specific DNA binding activity; and phospholipid binding activity. Predicted to be involved in several processes, including negative regulation of transcription by RNA polymerase II; positive regulation of ryanodine-sensitive calcium-release channel activity; and regulation of cardiac muscle tissue development. Predicted to act upstream of or within positive regulation of cytosolic calcium ion concentration. Predicted to be located in Z disc; membrane; and nucleus. Predicted to be part of junctional membrane complex. Predicted to be active in endoplasmic reticulum membrane; plasma membrane; and sarcoplasmic reticulum. Biomarker of hypertrophic cardiomyopathy. 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, Dec 2024]
Expression: Biased expression in Heart (RPKM 867.4), Muscle (RPKM 862.3) and 2 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 3q42

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	3	NC_086021.1 (172414246..172478678, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	3	NC_051338.1 (151994768..152058941, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	3	NC_005102.4 (159709998..159776536, complement)

Chromosome 3 - NC_086021.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Junctophilin-2 tethers T-tubules and recruits functional L-type calcium channels to lipid rafts in adult cardiomyocytes.
Title: Junctophilin-2 tethers T-tubules and recruits functional L-type calcium channels to lipid rafts in adult cardiomyocytes.
The MORN domain of Junctophilin2 regulates functional interactions with small-conductance Ca(2+) -activated potassium channel subtype2 (SK2).
Title: The MORN domain of Junctophilin2 regulates functional interactions with small-conductance Ca(2+) -activated potassium channel subtype2 (SK2).
Degradation of junctophilin-2 by MMP-2 is an early consequence of myocardial IR injury which may initiate a cascade of sequelae leading to impaired contractile function.
Title: Junctophilin-2 is a target of matrix metalloproteinase-2 in myocardial ischemia-reperfusion injury.
Colchicine reduces microtubule density, increases JPH2 expression, and improves both t-tubule architecture and RV function in rat model of pulmonary artery hypertension.
Title: Colchicine Depolymerizes Microtubules, Increases Junctophilin-2, and Improves Right Ventricular Function in Experimental Pulmonary Arterial Hypertension.
JP2 is required for the morphogenesis of T-tubules during heart development
Title: Morphogenesis of T-tubules in heart cells: the role of junctophilin-2.
This study demonstrates that both Jph1 and Jph2 in skeletal muscle undergo Ca2+-dependent proteolysis by endogenous proteases when the intracellular Ca2+ is raised within the physiological range for a sustained period
Title: Ca2+-dependent proteolysis of junctophilin-1 and junctophilin-2 in skeletal and cardiac muscle.
JPH2 is dispersed throughout RyR clusters and that the packing of JPH2 into junctions and the assembly of RyR clusters are tightly linked
Title: Nanoscale organization of junctophilin-2 and ryanodine receptors within peripheral couplings of rat ventricular cardiomyocytes.

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH130464 (e-PCR)
- UniSTS:213748

RH140922 (e-PCR)
- UniSTS:213748

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	ISS Inferred from Sequence or Structural Similarity more info
enables core promoter sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables core promoter sequence-specific DNA binding	ISS Inferred from Sequence or Structural Similarity more info
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

Process	Evidence Code	Pubs
involved_in calcium ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within positive regulation of cytosolic calcium ion concentration	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in Z disc	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in sarcoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in sarcoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in sarcoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: junctophilin-2

Names: JP-2; 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_001037974.2 → NP_001033063.1 junctophilin-2

See identical proteins and their annotated locations for NP_001033063.1

Status: VALIDATED

Source sequence(s)

JAXUCZ010000003

UniProtKB/Swiss-Prot

Q2PS20

UniProtKB/TrEMBL

A6JX22

Conserved Domains (3) summary

smart00698
Location:307 → 327

MORN; Possible plasma membrane-binding motif in junctophilins, PIP-5-kinases and protein kinases

pfam01044
Location:413 → 497

Vinculin; Vinculin family

pfam02493
Location:106 → 128

MORN; MORN repeat

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

NC_086021.1 Reference GRCr8

Range

172414246..172478678 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006235526.5 → XP_006235588.1 junctophilin-2 isoform X1

Related

ENSRNOP00000010938.2, ENSRNOT00000010939.7

Conserved Domains (3) summary

smart00698
Location:307 → 327

MORN; Possible plasma membrane-binding motif in junctophilins, PIP-5-kinases and protein kinases

pfam01044
Location:413 → 497

Vinculin; Vinculin family

pfam02493
Location:106 → 128

MORN; MORN repeat