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Aliases & Descriptions for JPH2
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases FLJ40969 2 JP-2 1 , 2 , 3 JP2 2 , 3 , 5 OTTHUMP00000031651 2 OTTHUMP00000031652 2
Descriptions Junctophilin type 2 3 junctophilin 2 2
Search outside databases for aliases for JPH2 genePrevious GC identifers: GC20M042533 GC20M042431 GC20M043378 GC20M043425
Summaries for JPH2 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for JPH2 : Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are acommon feature of all excitable cell types and mediate cross talk between cell surface andintracellular ion channels. The protein encoded by this gene is a component of junctionalcomplexes and is composed of a C-terminal hydrophobic segment spanning theendoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specificaffinity for the plasma membrane. This gene is a member of the junctophilin gene family.Alternative splicing has been observed at this locus and two variants encoding distinct isoformsare described. [provided by RefSeq] UniProtKB/Swiss-Prot: JPH2_HUMAN, Q9BR39 Function : Contributes to the stabilization of the junctional membrane complexes, which are commonto excitable cells and mediate cross-talk between cell surface and intracellular ion channels.Probably acts by anchoring the plasma membrane and endoplasmic/sarcoplasmic reticulum. Contributesto the construction of skeletal muscle triad junctions, and plays an essential role in heartdevelopment (By similarity)
Gene Wiki entry for JPH2
Genomic Location for JPH2
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
SABiosciences )About This Section
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the JPH2 gene Entrez Gene cytogenetic band: 20q13.12 Ensembl cytogenetic band: 20q13.12 HGNC cytogenetic band: 20q12-q13.11 JPH2 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 20 GeneLoc Exon Structure
GeneLoc location for GC20M042173:
(about GC identifiers )
Start:
42,173,751 bp from pter
End:
42,249,632 bp from pter
Size:
75,882 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000020.9 NT_011362.9 Proteins for JPH2
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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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). Endoplasmicreticulum membrane; Single-pass type IV membrane protein (By similarity). Sarcoplasmic reticulummembrane; Single-pass type IV membrane protein (By similarity). Note=Localized predominantly onthe plasma membrane. The transmembrane domain is anchored in endoplasmic/sarcoplasmic reticulummembrane, while the N-terminal part associates with the plasma membrane. In heart cells, itpredominantly associates along Z lines within myocytes. In skeletal muscle, it is specificallylocalized at the junction of A and I bands (By similarity)
Secondary accessions : O95913 Q5JY74 Q9UJN4Alternative splicing : 2 isoforms : Q9BR39-1 Q9BR39-2
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (2 alternative transcripts):
NP_065166.2 NP_787109.2 ENSEMBL proteins: ENSP00000344590 ENSP00000362071 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 5/6 Gene Ontology (GO) cellular component terms (links to tree view) (see all 6
):
About this table Antibodies for JPH2: Assays for JPH2:
Protein
Domains/ Families for JPH2(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry Q9BR39 ProtoNet protein and cluster: Q9BR39
1 Blocks protein family : IPB003409 MORN motif UniProtKB/Swiss-Prot: JPH2_HUMAN, Q9BR39 Domain : The MORN (membrane occupation and recognition nexus) repeats contribute to the plasmamembrane binding, possibly by interacting with phospholipids (By similarity) Similarity : Belongs to the junctophilin familySimilarity : Contains 8 MORN repeats
Gene Function for JPH2
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
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Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_020433 Applied Biosystems Silencer ® siRNAs for JPH2 Sigma-Aldrich siRNA for JPH2 Sigma-Aldrich shRNA for JPH2 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_020433                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_020433                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_020433  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_020433 UniProtKB/Swiss-Prot: JPH2_HUMAN, Q9BR39 Function : Contributes to the stabilization of the junctional membrane complexes, which are commonto excitable cells and mediate cross-talk between cell surface and intracellular ion channels.Probably acts by anchoring the plasma membrane and endoplasmic/sarcoplasmic reticulum. Contributesto the construction of skeletal muscle triad junctions, and plays an essential role in heartdevelopment (By similarity)
3 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Jph2) :1 Gene Ontology (GO) molecular function term (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0005515 protein binding
IEA --
About this table
Pathways & Interactions for JPH2
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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2 Interacting proteins for JPH2 (ENSP00000362071 3 ) via UniProtKB, MINT, and/or STRING About this table 2 Gene Ontology (GO) biological process terms (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0060314 regulation of ryanodine-sensitive calcium-release channel activity
TAS 19095005 GO:0060402 calcium ion transport into cytosol
TAS 19095005
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Drugs & Compounds for JPH2 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for JPH2 2 Novoseek chemical compound relationships for JPH2 gene
About this table
Transcripts for JPH2(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_020433 Sigma-Aldrich siRNA for JPH2 Sigma-Aldrich shRNA for JPH2 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_020433 NM_175913
REFSEQ mRNAs for JPH2 gene (2 alternative transcripts): NM_020433.4 NM_175913.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_020433 NM_175913
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_020433                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_020433                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_020433  
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
):AI276961 NM_020433 CA389883 AI656676 AL132999 AK098303 BC043206 CF125235 NM_175913 AI093476 F23333 AI242312 AI081352 AK098288 AL449556 AI760418 AW014086 F24055 AA346257 CD672083 AL449554 BC029957 AL449552 F33070
highest scoring ESTs for JPH2 :AI452900 AA450194 AA993161 AI081352 AI242312 AI276961 AI916069 AI916078 AL132999 AL449526
Unigene Cluster for JPH2: Junctophilin 2 Hs.441737 [show with all ESTs ] Unigene Representative Sequence: NM_020433 GeneLoc Exon Structure 2 Ensembl transcripts including schematic representations : ENST00000342272
ENST00000372980
Expression for JPH2
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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JPH2 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for JPH2 1 / 2 / 3
8 probe-sets matching JPH2 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: AGGGGAATGGSOURCE GeneReport for Unigene cluster: Hs.441737 UniProtKB/Swiss-Prot: JPH2_HUMAN, Q9BR39 Tissue specificity : Specifically expressed in skeletal muscle and heart
Orthologs for JPH2
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for JPH2 gene from 5/6 species (see all 6
)
About this table Species with no ortholog for JPH2 ENSEMBL Gene Tree for JPH2 Paralogs for JPH2 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for JPH2 gene JPH4 2 JPH1 2 JPH3 2
SNPs/Variants for JPH2 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for JPH2 (up to first 250kb)
Disorders & Mutations for JPH2
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 605267 Human Gene Mutation Database : JPH2 Human Genome Epidemiology Navigator: JPH2 (2 documents)
Medical News for JPH2 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for JPH2 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/14 PubMed articles for JPH2 gene (see all 14
): Characterization of human junctophilin subtype genes. (PubMed id 10891348) 1, 2, 3, 4 Nishi M....Takeshima H. (2000) Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983) 3, 4 Olsen J.V....Mann M. (2006) The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052) 3, 4 Deloukas P....Rogers J. (2001) Junctophilins: a novel family of junctional membrane complex proteins. (PubMed id 10949023) 2, 3 Takeshima H....Kangawa K. (2000) Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans. (PubMed id 17509612) 1, 3 Landstrom A.P....Ackerman M.J. (2007) Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy. (PubMed id 17476457) 1, 3 Matsushita Y....Matsuoka R. (2007) New molecular components supporting ryanodine receptor-mediated Ca(2+) release: roles of junctophilin and TRIC channel in embryonic cardiomyocytes. (PubMed id 19095005) 3 Yamazaki D....Takeshima H. (2009) A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648) 4 Dephoure N.... Gygi S.P. (2008) Mapping DNA-protein interactions in large genomes by sequence tag analysis of genomic enrichment. (PubMed id 15782160) 3 Kim J....Iyer V.R. (2005) Junctophilin type 2 is associated with caveolin-3 and is down-regulated in the hypertrophic and dilated cardiomyopathies. (PubMed id 15541368) 3 Minamisawa S....Matsuoka R. (2004)
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Genome Databases showing JPH2
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing JPH2
(According to HUGE )
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Specialized Databases showing JPH2 (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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-- Services for JPH2 (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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