JPH2 Gene
protein-coding GIFtS: 51
GCID: GC20M042740
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junctophilin 2
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Aliases
for JPH2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Junctophilin 21 2 | | JP-21 2 3 | | JP22 3 5 | | Junctophilin Type 22 3 | | CMH172 | | Junctophilin-21 |
Export aliases for JPH2 gene to outside databasesPrevious GC identifers: GC20M042533 GC20M042431 GC20M043378 GC20M043425 GC20M042173 GC20M039477 |
Summaries
for JPH2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for JPH2:
Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of allexcitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encodedby this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning theendoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for theplasma membrane. This gene is a member of the junctophilin gene family. Alternative splicing has been observed at thislocus and two variants encoding distinct isoforms are described. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: JPH2_HUMAN, Q9BR39Function: Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasmamembrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation forfunctional cross-talk between the cell surface and intracellular calcium release channels. JPH2 is necessary forproper intracellular Ca(2+) signaling in cardiac myocytes via its involvement in ryanodine receptor-mediated calciumion release. Contributes to the construction of skeletal muscle triad junctions
Gene Wiki entry for JPH2
|
Genomic Views
for JPH2 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000020.10 NC_018931.1 NT_011362.10
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the JPH2 gene promoter:
SRF TBP CHOP-10 Spz1 Nkx6-1 SRF (504 AA) POU3F1 C/EBPalpha
Other transcription factors
Search SABiosciences Chromatin IP Primers for JPH2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat JPH2 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 20q13.12 Ensembl cytogenetic band: 20q13.12 HGNC cytogenetic band: 20q12-q13.11JPH2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 20 GeneLoc Exon Structure GeneLoc location for GC20M042740: view genomic region
(about GC identifiers)
Start:
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42,740,335 bp from pter |
End:
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42,816,218 bp from pter |
Size:
|
75,884 bases |
Orientation:
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minus strand |
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Proteins
for JPH2 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: JPH2_HUMAN, Q9BR39 (See
protein sequence)Recommended Name: Junctophilin-2 Size: 696 amino acids; 74222 Da
Subcellular location: Cell membrane; Peripheral membrane protein (By similarity). Endoplasmic reticulum membrane;Single-pass type IV membrane protein (By similarity). Sarcoplasmic reticulum membrane; Single-pass type IV membraneprotein (By similarity). Note=Localized predominantly on the plasma membrane. The transmembrane domain is anchored inendoplasmic/sarcoplasmic reticulum membrane, while the N-terminal part associates with the plasma membrane. In heartcells, it predominantly associates along Z lines within myocytes. In skeletal muscle, it is specifically localized atthe junction of A and I bands (By similarity)
Secondary accessions: E1P5X1 O95913 Q5JY74 Q9UJN4Alternative splicing: 2 isoforms: Q9BR39-1 Q9BR39-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for JPH2: NX_Q9BR39
Post-translational modifications:
Phosphorylation on Ser-165, probably by PKC, affects RYR1-mediated calcium ion release, interaction with TRPC3, andskeletal muscle myotubule development1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9BR39
JPH2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_065166.2 NP_787109.2
ENSEMBL proteins: ENSP00000362071 ENSP00000344590
Human Recombinant Protein Products for JPH2:
Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8): About this table
JPH2 for ontologies About GeneDecksing
JPH2 Antibody Products:
Assay Products for JPH2: |
Protein
Domains /
Families
for JPH2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
JPH2 for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9BR39ProtoNet protein and cluster: Q9BR39 1 Blocks protein family: IPB003409 MORN motif
UniProtKB/Swiss-Prot: JPH2_HUMAN, Q9BR39Domain: The MORN (membrane occupation and recognition nexus) repeats contribute to the plasma membrane binding,possibly by interacting with phospholipids (By similarity)Similarity: Belongs to the junctophilin familySimilarity: Contains 8 MORN repeats |
Function
for JPH2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: JPH2_HUMAN, Q9BR39Function: Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasmamembrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation forfunctional cross-talk between the cell surface and intracellular calcium release channels. JPH2 is necessary forproper intracellular Ca(2+) signaling in cardiac myocytes via its involvement in ryanodine receptor-mediated calciumion release. Contributes to the construction of skeletal muscle triad junctions Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005515 | protein binding |
IPI | -- | | GO:0015278 | calcium-release channel activity |
IDA | -- |
JPH2 for ontologies About GeneDecksing
Phenotypes:
3 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Jph2):
JPH2 for phenotypes About GeneDecksing
Animal Models:
Mouse knock-out Jph2tm1Hta for JPH2
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for JPH2 (see all 2)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for JPH2 |
|
Pathways & Interactions
for JPH2 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for JPH2
STRING Interaction
Network Preview (showing 5 interactants - click image to see 6)
5/7 Interacting proteins for JPH2 (Q9BR393 ENSP000003620714) via UniProtKB, MINT, STRING, and/or I2D (see all 7)About this table
Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0007204 | elevation of cytosolic calcium ion concentration |
-- | -- | | GO:0055024 | regulation of cardiac muscle tissue development |
IEA | -- | | GO:0055074 | calcium ion homeostasis |
IDA | -- | | GO:0060314 | regulation of ryanodine-sensitive calcium-release channel activity |
TAS | 19095005 | | GO:0060316 | positive regulation of ryanodine-sensitive calcium-release channel activity |
IDA | -- |
JPH2 for ontologies About GeneDecksing
|
Drugs & Compounds
for JPH2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
JPH2 for compounds About GeneDecksing
 Browse Tocris compounds for JPH2
2 Novoseek chemical compound relationships for JPH2 gene About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| ryanodine |
66.1 |
2 |
17509612 (1) |
| calcium |
21.8 |
11 |
17509612 (5), 20095964 (1) |
Search CenterWatch for drugs/clinical trials and news about JPH2
|
Transcripts
for JPH2 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for JPH2 gene (2 alternative transcripts): NM_020433.4 NM_175913.3 Unigene Cluster for JPH2: Junctophilin 2 Hs.441737 [show with all ESTs]Unigene Representative Sequence: NM_0204332 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000372980(uc002xli.1) ENST00000342272(uc002xlj.3)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for JPH2 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for JPH2 (see all 2)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): JPH2 (NM_175913) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for JPH2 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat JPH2 |
Additional cDNA sequence: AK098288.1 AK098303.1 AK304863.1 AL132999.1 BC029957.1 BC043206.2 4 DOTS entries: DT.100739903 DT.70100734 DT.438270 DT.95254408 24/53 AceView cDNA sequences (see all 53): CF125235 AK098288 F23333 AI276961 NM_175913 NM_020433 AI656676 CA389883 BC043206 AL132999 AI081352 AI242312 AI093476 AK098303 AI760418 BC029957 F24055 AL449556 AL449552 AL449554 AA346257 AW014086 CD672083 F32966
GeneLoc Exon Structure
|
Expression
for JPH2 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| JPH2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGGGGAATGG
About this image
See JPH2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for JPH2
SOURCE GeneReport for Unigene cluster: Hs.441737
UniProtKB/Swiss-Prot: JPH2_HUMAN, Q9BR39Tissue specificity: Specifically expressed in skeletal muscle and heart
SABiosciences Custom PCR Arrays for JPH2
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for JPH2
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat JPH2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat JPH2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat JPH2 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for JPH2 |
Orthologs
for JPH2 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for JPH2 gene from 7/24 species (see all 24) About this table
ENSEMBL Gene Tree for JPH2 (if available)
TreeFam Gene Tree for JPH2 (if available) |
Paralogs
for JPH2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for JPH2 gene
- RSPH10B2 JPH42 MORN42 JPH12 ALS2CL2 JPH32 RSPH10B22 MORN12
- RSPH12 ALS22 MORN32
6 SIMAP similar genes for JPH2 using alignment to 2 protein entries: JPH2_HUMAN (see all proteins):DKFZp779I2251 JPH1 JPH3 JPH4 LOC118812 MORN4
JPH2 for paralogs About GeneDecksing
|
Genomic Variants
for JPH2 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 20 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for JPH2 (42740335 - 42816218 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for JPH2
2 Indels: 26830 12190
Human Gene Mutation Database (HGMD): JPH2
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing JPH2 |
|
Disorders
/ Diseases
for JPH2 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
JPH2 for disorders About GeneDecksing
OMIM gene information: 605267
OMIM disorders: --
UniProtKB/Swiss-Prot: JPH2_HUMAN, Q9BR39
Defects in JPH2 are the cause of familial hypertrophic cardiomyopathy type 17 (CMH17) [MIM:613873]. CMH17 is ahereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves theinterventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can bereadily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignantforms with high risk of cardiac failure and sudden cardiac death
6  diseases for JPH2: About MalaCardshypertrophic cardiomyopathy dilated cardiomyopathy cardiomyopathy pneumonia
malaria neuronitis
1 disease from the University of Copenhagen DISEASES database for JPH2:Hypertrophic cardiomyopathy Human Genome Epidemiology (HuGE) Navigator: JPH2 (3 documents)
Export disorders for JPH2 gene to outside databases
|
Publications
for JPH2 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for JPH2 gene, integrated from 9 sources (see all 20):
(articles sorted by number of sources associating them with JPH2) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Characterization of human junctophilin subtype genes. (PubMed id 10891348)1, 2, 3, 9 Nishi M....Takeshima H. (2000)
- Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans. (PubMed id 17509612)1, 2, 9 Landstrom A.P....Ackerman M.J. (2007)
- S165F mutation of junctophilin 2 affects Ca2+ signall ing in skeletal muscle. (PubMed id 20095964)1, 2, 9 Woo J.S....Lee E.H. (2010)
- Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy. (PubMed id 17476457)1, 2, 9 Matsushita Y....Matsuoka R. (2007)
- Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
- The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
- Junctophilins: a novel family of junctional membrane complex proteins. (PubMed id 10949023)1, 3 Takeshima H....Kangawa K. (2000)
- Hypertrophy in skeletal myotubes induced by junctophil in-2 mutant, Y141H, involves an increase in store-operated Ca2+ entry via Orai1. (PubMed id 22389502)1 Woo J.S....Lee E.H. (2012)
- Junctophilin 1 and 2 proteins interact with the L-type Ca2+ channel dihydropyridine receptors (DHPRs) in skeletal muscle. (PubMed id 22020936)1 Golini L....Sorrentino V. (2011)
- Disrupted junctional membrane complexes and hyperacti ve ryanodine receptors after acute junctophilin knockdown in mice. (PubMed id 21339484)1 van Oort R.J....Wehrens X.H. (2011)
|
External Searches for JPH2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing JPH2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing JPH2 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing JPH2 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for JPH2 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for JPH2 gene:
Search GeneIP for patents involving JPH2
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for JPH2 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
|
 | |
 | |
 |
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