Aliases &
Descriptions
for JPH2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase)
About This Section
|
| Aliases & Descriptions |
|---|
| junctophilin 21 2 | | JP-21 2 3 | | JP22 3 5 | | Junctophilin type 22 3 | | junctophilin-22 | | FLJ409692 |
Export aliases for JPH2 gene to outside databasesPrevious GC identifers: GC20M042533 GC20M042431 GC20M043378 GC20M043425 GC20M042173 GC20M042740 |
Summaries
for JPH2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
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)
UniProtKB/Swiss-Prot: JPH2_HUMAN, Q9BR39Function: Contributes to the stabilization of the junctional membrane complexes, which are common to excitable cellsand mediate cross-talk between cell surface and intracellular ion channels. Probably acts by anchoring the plasmamembrane and endoplasmic/sarcoplasmic reticulum. Contributes to the construction of skeletal muscle triad junctions,and plays an essential role in heart development (By similarity)
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 60),
Regulatory elements and Epigenetics data according to
Qiagen and/or
SABiosciences)
About This Section
|
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the JPH2 gene promoter:
MEF-2A RSRFC4 Meis-1 HOXA9B SRF GR-beta GR-alpha AREB6 POU3F2 POU3F2 (N-Oct-5b)
Other transcription factors
Search SABiosciences Chromatin IP Primers for JPH2
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays  |
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 gene densities for chromosome 20 GeneLoc Exon Structure GeneLoc location for GC20M039477: view genomic region
(about GC identifiers)
Start:
|
39,477,014 bp from pter |
End:
|
39,552,742 bp from pter |
Size:
|
75,729 bases |
Orientation:
|
minus strand |
1 alternative location:
| Chr20- 42,740,335-42,816,218 |
RefSeq DNA sequence:- NC_000020.10 NT_011362.10
|
Proteins
for JPH2 gene
(According to
1UniProtKB,
neXtProt,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological, and/or
ProSpec,
Biochemical Assays by
Millipore,
Sigma-Aldrich,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Dec 2010 and
Entrez Gene,
Antibodies by
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals, and/or
Epitomics)
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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). 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: O95913 Q5JY74 Q9UJN4Alternative splicing: 2 isoforms: Q9BR39-1 Q9BR39-2 Explore the universe of human proteins at neXtProt for JPH2: NX_Q9BR39
Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins (2 alternative transcripts):
NP_065166.2 NP_787109.2
ENSEMBL proteins: ENSP00000344590 ENSP00000362071
Human Recombinant Proteins
5/6 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 6): About this table
JPH2 for ontologies About GeneDecksing
Antibodies for JPH2:
Assays 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 |
Gene Function
for JPH2 gene
(According to UniProtKB,
IUBMB,and/or
Genatlas, Animal models from MGI Dec 24 2010,
shRNA from
OriGene,
Sigma-Aldrich,
RNAi from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Clones from Millipore,
Sigma-Aldrich,
OriGene,
GenScript,
Sino Biological,
Cell Lines from GenScript,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene.)
About This Section
|
UniProtKB/Swiss-Prot: JPH2_HUMAN, Q9BR39Function: Contributes to the stabilization of the junctional membrane complexes, which are common to excitable cellsand mediate cross-talk between cell surface and intracellular ion channels. Probably acts by anchoring the plasmamembrane and endoplasmic/sarcoplasmic reticulum. Contributes to the construction of skeletal muscle triad junctions,and plays an essential role in heart development (By similarity)
1 Gene Ontology (GO) molecular function term (GO ID links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005515 | protein binding |
IEA | -- |
About this table
JPH2 for ontologies About GeneDecksing
Animal Models: 3 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Jph2):
JPH2 for phenotypes About GeneDecksing
|
Pathways & Interactions
for JPH2 gene
(Pathways according to
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
PCR Arrays from
SABiosciences,
Proteins Network according to
SABiosciences,
Sigma-Aldrich,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene).
About This Section
|
SABiosciences Custom Pathway-Focused PCR Arrays for JPH2
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for JPH2
3 Gene Ontology (GO) biological process terms (GO ID links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0007204 | elevation of cytosolic calcium ion concentration |
-- | -- | | GO:0060314 | regulation of ryanodine-sensitive calcium-release channel activity |
TAS | 19095005 | | GO:0060402 | calcium ion transport into cytosol |
TAS | 19095005 |
About this table
JPH2 for ontologies About GeneDecksing
|
Drugs & Compounds
for JPH2 gene(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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|
JPH2 for compounds About GeneDecksing
 Browse Tocris compounds for JPH2
2  Novoseek chemical compound relationships for JPH2 gene
About this table
|
Transcripts
for JPH2 gene(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
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
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Tagged/untagged cDNA clones from
OriGene,
Sigma-Aldrich,
GenScript,
Primers from
OriGene and/or
SABiosciences)
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|
REFSEQ mRNAs for JPH2 gene (2 alternative transcripts): NM_020433.4 NM_175913.3 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): AI081352 AI242312 AK098303 AI276961 AI093476 AL132999 F23333 CF125235 NM_175913 CA389883 BC043206 NM_020433 AI656676 AK098288 AW014086 BC029957 F24055 AL449552 AI760418 CD672083 AL449556 AA346257 AL449554 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, and UCSC links where relevant: ENST00000342272(uc002xlj.2) ENST00000372980(uc002xli.1)
|
Expression
for JPH2 gene
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 228 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Primers from
OriGene and/or
SABiosciences
)
About This Section
| JPH2 expression in normal and diseased human tissues
1 / 2 / 3 8 probe-sets matching JPH2 gene
Affymetrix
probe-set |
Array |
GeneAnnot data |
GeneNote data |
GeneTide data |
| # genes |
Sensitivity |
Specificity |
Correlation |
Length |
Gb_Accession |
Consensus |
Uniqueness |
Score |
Rank |
| 76828_at2, 3
|
U95-E |
1 |
0.88 |
1.00 |
0.68 |
1.68 |
AW014086 |
0.80 |
1.00 |
0.91 |
1 |
| 60416_at2, 3
|
U95-C |
1 |
0.56 |
1.00 |
0.71 |
0.90 |
AI081352 |
0.80 |
1.00 |
0.91 |
1 |
| 75628_at2, 3
|
U95-E |
1 |
0.31 |
1.00 |
0.89 |
0.47 |
AI452900 |
1.00 |
1.00 |
1.00 |
1 |
| 229578_at2, 3
|
U133-B |
1 |
0.82 |
1.00 |
-- |
-- |
AA716165 |
0.60 |
1.00 |
0.82 |
1 |
| 220385_at2, 3
|
U133-A |
1 |
0.46 |
1.00 |
-- |
-- |
NM_020433 |
0.60 |
1.00 |
0.82 |
1 |
| 229578_at2
|
U133Plus2 |
1 |
0.82 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 1553174_at2
|
U133Plus2 |
1 |
0.64 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 220385_at2
|
U133Plus2 |
1 |
0.46 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
About this table
JPH2 for expression About GeneDecksing
Data from
Genenote
(Publications) and GNF BioGPS
About these images
About these images
CGAP SAGE TAG: AGGGGAATGG
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
|
Orthologs
for JPH2 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Dec 24 2010,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
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 (if available) |
Paralogs
for JPH2 gene(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
| Paralogs for JPH2 gene
- JPH42 JPH12 ALS22 JPH32
JPH2 for paralogs About GeneDecksing
|
Genomic Variants
for JPH2 gene(SNPs according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Chr 20 pos | Sequence | Recs | AA
Chg | Type | More | Recs | Allele
freq | Pop | Total
sample | More |
|---|
About this tableHapMap Linkage Disequilibrium images for JPH2 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for JPH2
2 Indels: 26830 12190 | | QIAGEN SeqTarget long-range PCR primers for resequencing JPH2 |
|
Disorders & Mutations
for JPH2 gene
(in which this Gene is Involved, According to
OMIM, UniProtKB,
PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
LSDB, HGMD, GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
JPH2 for disorders About GeneDecksing
OMIM: 605267
Human Gene Mutation Database (HGMD): JPH2
Human Genome Epidemiology (HuGE) Navigator: JPH2 (3 documents)
Export disorders and mutations for JPH2 gene to outside databases
|
Medical News
for JPH2 gene(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications
for JPH2 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6UniProtKB/TrEMBL, and/or
7Novoseek)
About This Section
|
10/16 PubMed articles for JPH2 gene, integrated from 7 sources (see all 16):
(articles sorted by number of sources associating them with JPH2)- Characterization of human junctophilin subtype genes. (PubMed id 10891348)1, 2, 3, 7 Nishi M....Takeshima H. (2000)
- 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)
- Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans. (PubMed id 17509612)1, 7 Landstrom A.P....Ackerman M.J. (2007)
- S165F mutation of junctophilin 2 affects Ca2+ signall ing in skeletal muscle. (PubMed id 20095964)1, 7 Woo J.S....Lee E.H. (2010)
- Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy. (PubMed id 17476457)1, 7 Matsushita Y....Matsuoka R. (2007)
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
- New molecular components supporting ryanodine receptor-mediated Ca(2+) release: roles of junctophilin and TRIC channel in embryonic cardiomyocytes. (PubMed id 19095005)1 Yamazaki D....Takeshima H. (2009)
- A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
|
External Searches for JPH2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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|
|
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 ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
|
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 by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or
Enzo Life Sciences)
About This Section
|
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 | | | ELISAs and CLIAs for JPH2 |
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