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Aliases for JPH2 Gene

Aliases for JPH2 Gene

  • Junctophilin 2 2 3 5
  • Junctophilin Type 2 3 4
  • JP-2 3 4
  • JP2 3 4
  • Junctophilin-2 3
  • CMH17 3

External Ids for JPH2 Gene

Previous GeneCards Identifiers for JPH2 Gene

  • GC20M042533
  • GC20M042431
  • GC20M043378
  • GC20M043425
  • GC20M042173
  • GC20M042740
  • GC20M039477

Summaries for JPH2 Gene

Entrez Gene Summary for JPH2 Gene

  • Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity 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 isoforms are described. [provided by RefSeq, Jul 2008]

GeneCards Summary for JPH2 Gene

JPH2 (Junctophilin 2) is a Protein Coding gene. Diseases associated with JPH2 include Cardiomyopathy, Hypertrophic, 17 and Jph2-Related Familial Hypertrophic Cardiomyopathy. GO annotations related to this gene include phosphatidylinositol-4,5-bisphosphate binding and phosphatidylinositol-3-phosphate binding. An important paralog of this gene is JPH1.

UniProtKB/Swiss-Prot for JPH2 Gene

  • Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation for functional cross-talk between the cell surface and intracellular calcium release channels. JPH2 is necessary for proper intracellular Ca(2+) signaling in cardiac myocytes via its involvement in ryanodine receptor-mediated calcium ion release. Contributes to the construction of skeletal muscle triad junctions.

Gene Wiki entry for JPH2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for JPH2 Gene

Genomics for JPH2 Gene

Regulatory Elements for JPH2 Gene

Enhancers for JPH2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20G044173 1.8 FANTOM5 Ensembl ENCODE dbSUPER 19.7 +5.8 5792 15.7 HDGF PKNOX1 MLX SIN3A YBX1 DMAP1 ZNF48 TCF12 ZNF121 ZNF302 JPH2 FITM2 OSER1 IFT52 SGK2 OSER1-AS1 GC20P044130
GH20G044735 1.5 Ensembl ENCODE dbSUPER 11.8 -548.9 -548855 1.3 ATF1 CREB3L1 ARID4B YY1 ETS1 SLC30A9 ELK1 ZNF143 ZMIZ1 FOS LINC01260 JPH2 PKIG KCNK15-AS1 KCNK15 WISP2
GH20G044165 1.1 Ensembl ENCODE dbSUPER 11.2 +20.8 20812 2.9 ZNF664 JUND SMARCA4 POLR2A PRDM10 EBF1 EGR2 JPH2 FITM2 OSER1 TTPAL GC20P044130
GH20G044134 1.4 Ensembl ENCODE dbSUPER 5.9 +46.4 46422 12.4 RAD21 RARA ZNF121 SCRT2 IKZF2 EGR2 SP5 CEBPB JUNB GATAD2B OSER1-AS1 JPH2 GC20P044130
GH20G044216 1.7 FANTOM5 Ensembl ENCODE dbSUPER 4.6 -31.3 -31261 3.7 ELF3 RB1 ZSCAN4 ARID4B ZNF48 RAD21 ZNF143 MIXL1 DEK THAP11 OSER1 FITM2 LINC01620 LINC01430 OSER1-AS1 JPH2 GDAP1L1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around JPH2 on UCSC Golden Path with GeneCards custom track

Promoters for JPH2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000137483 878 1401 CHD1 E2F4 EBF1 ZFHX2 POLR2A KLF9 EGR2 TCF7L2 EZH2

Genomic Location for JPH2 Gene

Chromosome:
20
Start:
44,111,695 bp from pter
End:
44,187,578 bp from pter
Size:
75,884 bases
Orientation:
Minus strand

Genomic View for JPH2 Gene

Genes around JPH2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
JPH2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for JPH2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for JPH2 Gene

Proteins for JPH2 Gene

  • Protein details for JPH2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BR39-JPH2_HUMAN
    Recommended name:
    Junctophilin-2
    Protein Accession:
    Q9BR39
    Secondary Accessions:
    • E1P5X1
    • O95913
    • Q5JY74
    • Q9UJN4

    Protein attributes for JPH2 Gene

    Size:
    696 amino acids
    Molecular mass:
    74222 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for JPH2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for JPH2 Gene

Post-translational modifications for JPH2 Gene

  • Phosphorylation on Ser-165, probably by PKC, affects RYR1-mediated calcium ion release, interaction with TRPC3, and skeletal muscle myotubule development.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for JPH2 Gene

No data available for DME Specific Peptides for JPH2 Gene

Domains & Families for JPH2 Gene

Protein Domains for JPH2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for JPH2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BR39

UniProtKB/Swiss-Prot:

JPH2_HUMAN :
  • The MORN (membrane occupation and recognition nexus) repeats contribute to the plasma membrane binding, by interacting with phospholipids. Has affinity for phosphatidylserine, and phosphorylated phosphatidylinositols including PtdIns3P, PtdIns4P, PtdIns5P, PtdIns(3,5)P2 and PtdIns(3,4,5)P3.
  • Belongs to the junctophilin family.
Domain:
  • The MORN (membrane occupation and recognition nexus) repeats contribute to the plasma membrane binding, by interacting with phospholipids. Has affinity for phosphatidylserine, and phosphorylated phosphatidylinositols including PtdIns3P, PtdIns4P, PtdIns5P, PtdIns(3,5)P2 and PtdIns(3,4,5)P3.
Family:
  • Belongs to the junctophilin family.
genes like me logo Genes that share domains with JPH2: view

No data available for Gene Families for JPH2 Gene

Function for JPH2 Gene

Molecular function for JPH2 Gene

UniProtKB/Swiss-Prot Function:
Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation for functional cross-talk between the cell surface and intracellular calcium release channels. JPH2 is necessary for proper intracellular Ca(2+) signaling in cardiac myocytes via its involvement in ryanodine receptor-mediated calcium ion release. Contributes to the construction of skeletal muscle triad junctions.

Gene Ontology (GO) - Molecular Function for JPH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001786 phosphatidylserine binding IDA 24001019
GO:0005515 protein binding IPI 20095964
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding IDA 24001019
GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding IDA 24001019
GO:0010314 phosphatidylinositol-5-phosphate binding IDA 24001019
genes like me logo Genes that share ontologies with JPH2: view
genes like me logo Genes that share phenotypes with JPH2: view

Human Phenotype Ontology for JPH2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for JPH2 Gene

MGI Knock Outs for JPH2:

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for JPH2 Gene

Localization for JPH2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for JPH2 Gene

Cell membrane; Peripheral membrane protein. Endoplasmic reticulum membrane; Single-pass type IV membrane protein. Sarcoplasmic reticulum membrane; Single-pass type IV membrane protein. Note=Localized predominantly on the plasma membrane. The transmembrane domain is anchored in endoplasmic/sarcoplasmic reticulum membrane, while the N-terminal part associates with the plasma membrane. In heart cells, it predominantly associates along Z lines within myocytes. In skeletal muscle, it is specifically localized at the junction of A and I bands (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for JPH2 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 4
cytosol 3
extracellular 1
mitochondrion 1
peroxisome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for JPH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005886 plasma membrane IEA --
GO:0014701 junctional sarcoplasmic reticulum membrane TAS 19095005
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with JPH2: view

Pathways & Interactions for JPH2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for JPH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007204 positive regulation of cytosolic calcium ion concentration IEA --
GO:0051209 release of sequestered calcium ion into cytosol IEA --
GO:0055024 regulation of cardiac muscle tissue development IEA --
GO:0055074 calcium ion homeostasis IDA 20095964
GO:0060314 regulation of ryanodine-sensitive calcium-release channel activity TAS 19095005
genes like me logo Genes that share ontologies with JPH2: view

No data available for Pathways by source and SIGNOR curated interactions for JPH2 Gene

Drugs & Compounds for JPH2 Gene

(2) Drugs for JPH2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with JPH2: view

Transcripts for JPH2 Gene

mRNA/cDNA for JPH2 Gene

Unigene Clusters for JPH2 Gene

Junctophilin 2:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for JPH2 Gene

No ASD Table

Relevant External Links for JPH2 Gene

GeneLoc Exon Structure for
JPH2
ECgene alternative splicing isoforms for
JPH2

Expression for JPH2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for JPH2 Gene

mRNA differential expression in normal tissues according to GTEx for JPH2 Gene

This gene is overexpressed in Heart - Left Ventricle (x5.6), Esophagus - Gastroesophageal Junction (x5.2), Esophagus - Muscularis (x5.2), Muscle - Skeletal (x4.4), and Colon - Sigmoid (x4.1).

Protein differential expression in normal tissues from HIPED for JPH2 Gene

This gene is overexpressed in Colon muscle (16.3), Urinary Bladder (9.1), Rectum (6.5), and Colon (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for JPH2 Gene



Protein tissue co-expression partners for JPH2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of JPH2 Gene:

JPH2

SOURCE GeneReport for Unigene cluster for JPH2 Gene:

Hs.441737

mRNA Expression by UniProt/SwissProt for JPH2 Gene:

Q9BR39-JPH2_HUMAN
Tissue specificity: Specifically expressed in skeletal muscle and heart.

Evidence on tissue expression from TISSUES for JPH2 Gene

  • Liver(4)
  • Muscle(3.2)
  • Heart(2.9)

Phenotype-based relationships between genes and organs from Gene ORGANizer for JPH2 Gene

Germ Layers:
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • respiratory
Organs:
Head and neck:
  • ear
Thorax:
  • heart
  • heart valve
genes like me logo Genes that share expression patterns with JPH2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for JPH2 Gene

Orthologs for JPH2 Gene

This gene was present in the common ancestor of animals.

Orthologs for JPH2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia JPH2 34
  • 99.13 (n)
cow
(Bos Taurus)
Mammalia JPH2 34 35
  • 89.08 (n)
rat
(Rattus norvegicus)
Mammalia Jph2 34
  • 85.42 (n)
mouse
(Mus musculus)
Mammalia Jph2 34 16 35
  • 84.65 (n)
oppossum
(Monodelphis domestica)
Mammalia JPH2 35
  • 74 (a)
OneToOne
dog
(Canis familiaris)
Mammalia JPH2 35
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves JPH2 34 35
  • 78.69 (n)
lizard
(Anolis carolinensis)
Reptilia JPH2 35
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia jph2 34
  • 65.34 (n)
zebrafish
(Danio rerio)
Actinopterygii jph2 34 35
  • 62.7 (n)
fruit fly
(Drosophila melanogaster)
Insecta jp 35
  • 24 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea jph-1 35
  • 32 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 55 (a)
OneToMany
Species where no ortholog for JPH2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for JPH2 Gene

ENSEMBL:
Gene Tree for JPH2 (if available)
TreeFam:
Gene Tree for JPH2 (if available)

Paralogs for JPH2 Gene

Paralogs for JPH2 Gene

(6) SIMAP similar genes for JPH2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with JPH2: view

Variants for JPH2 Gene

Sequence variations from dbSNP and Humsavar for JPH2 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs387906897 Pathogenic, Cardiomyopathy, familial hypertrophic 17 (CMH17) [MIM:613873] 44,160,366(-) ATGGC(C/T)ACGGA reference, missense
rs387906898 Pathogenic, Cardiomyopathy, familial hypertrophic 17 (CMH17) [MIM:613873] 44,160,293(-) GTCGT(C/T)CCTGC reference, missense
VAR_065471 Cardiomyopathy, familial hypertrophic 17 (CMH17) [MIM:613873]
rs557878787 Likely pathogenic 44,118,580(+) CAGGG(A/C/T)GGCCT reference, missense
rs587782951 Likely pathogenic 44,160,305(-) GCGCA(A/C)GTCGC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for JPH2 Gene

Variant ID Type Subtype PubMed ID
esv1288244 CNV deletion 17803354
esv1407305 CNV insertion 17803354
esv2660521 CNV deletion 23128226
esv2722442 CNV deletion 23290073
esv3575374 CNV gain 25503493
esv3645903 CNV gain 21293372
esv3645904 CNV loss 21293372
nsv1057847 CNV loss 25217958
nsv1072539 CNV deletion 25765185
nsv1122032 CNV deletion 24896259
nsv1123489 CNV deletion 24896259
nsv1133506 CNV deletion 24896259
nsv178769 CNV deletion 16902084
nsv179208 CNV deletion 16902084
nsv954043 CNV deletion 24416366
nsv954261 CNV deletion 24416366

Variation tolerance for JPH2 Gene

Residual Variation Intolerance Score: 30.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.58; 91.25% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for JPH2 Gene

Human Gene Mutation Database (HGMD)
JPH2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
JPH2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for JPH2 Gene

Disorders for JPH2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for JPH2 Gene - From: OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cardiomyopathy, hypertrophic, 17
  • hypertrophic cardiomyopathy 17
jph2-related familial hypertrophic cardiomyopathy
  • cmh17
lung abscess
cardiomyopathy, familial hypertrophic
  • cardiomyopathy, hypertrophic, 1
cardiomyopathy
  • cardiomyopathies
- elite association - COSMIC cancer census association via MalaCards
Search JPH2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

JPH2_HUMAN
  • Cardiomyopathy, familial hypertrophic 17 (CMH17) [MIM:613873]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. {ECO:0000269 PubMed:17509612, ECO:0000269 PubMed:24001019}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for JPH2

Genetic Association Database (GAD)
JPH2
Human Genome Epidemiology (HuGE) Navigator
JPH2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
JPH2
genes like me logo Genes that share disorders with JPH2: view

No data available for Genatlas for JPH2 Gene

Publications for JPH2 Gene

  1. Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy. (PMID: 17476457) Matsushita Y. … Matsuoka R. (J. Hum. Genet. 2007) 3 4 22 46 64
  2. Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans. (PMID: 17509612) Landstrom A.P. … Ackerman M.J. (J. Mol. Cell. Cardiol. 2007) 3 4 22 46 64
  3. Characterization of human junctophilin subtype genes. (PMID: 10891348) Nishi M. … Takeshima H. (Biochem. Biophys. Res. Commun. 2000) 2 3 4 22 64
  4. S165F mutation of junctophilin 2 affects Ca2+ signalling in skeletal muscle. (PMID: 20095964) Woo J.S. … Lee E.H. (Biochem. J. 2010) 3 4 22 64
  5. Human junctophilin-2 undergoes a structural rearrangement upon binding PtdIns(3,4,5)P3 and the S101R mutation identified in hypertrophic cardiomyopathy obviates this response. (PMID: 24001019) Bennett H.J. … Kitmitto A. (Biochem. J. 2013) 3 4 64

Products for JPH2 Gene

Sources for JPH2 Gene

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