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Aliases for JPH4 Gene

Aliases for JPH4 Gene

  • Junctophilin 4 2 3 5
  • Junctophilin-Like 1 Protein 3 4
  • Junctophilin Like 1 2 3
  • JPHL1 3 4
  • JP-4 3 4
  • KIAA1831 4
  • JP4 3

External Ids for JPH4 Gene

Previous HGNC Symbols for JPH4 Gene

  • JPHL1

Previous GeneCards Identifiers for JPH4 Gene

  • GC14M022027
  • GC14M023099
  • GC14M023109
  • GC14M024037
  • GC14M004153

Summaries for JPH4 Gene

Entrez Gene Summary for JPH4 Gene

  • This gene encodes a member of the junctophilin family of transmembrane proteins that are involved in the formation of the junctional membrane complexes between the plasma membrane and the endoplasmic/sarcoplasmic reticulum in excitable cells. The encoded protein contains a conserved N-terminal repeat region called the membrane occupation and recognition nexus sequence that is found in other members of the junctophilin family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]

GeneCards Summary for JPH4 Gene

JPH4 (Junctophilin 4) is a Protein Coding gene. An important paralog of this gene is JPH3.

UniProtKB/Swiss-Prot for JPH4 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. JPH4 is brain-specific and appears to have an active role in certain neurons involved in motor coordination and memory (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for JPH4 Gene

Genomics for JPH4 Gene

Regulatory Elements for JPH4 Gene

Genomic Location for JPH4 Gene

Chromosome:
14
Start:
23,568,035 bp from pter
End:
23,578,800 bp from pter
Size:
10,766 bases
Orientation:
Minus strand

Genomic View for JPH4 Gene

Genes around JPH4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
JPH4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for JPH4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for JPH4 Gene

Proteins for JPH4 Gene

  • Protein details for JPH4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96JJ6-JPH4_HUMAN
    Recommended name:
    Junctophilin-4
    Protein Accession:
    Q96JJ6
    Secondary Accessions:
    • D3DS53
    • Q8ND44
    • Q96DQ0

    Protein attributes for JPH4 Gene

    Size:
    628 amino acids
    Molecular mass:
    65861 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB47460.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAB70905.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for JPH4 Gene

Proteomics data for JPH4 Gene at MOPED

Post-translational modifications for JPH4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for JPH4 Gene

No data available for DME Specific Peptides for JPH4 Gene

Domains & Families for JPH4 Gene

Protein Domains for JPH4 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for JPH4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96JJ6

UniProtKB/Swiss-Prot:

JPH4_HUMAN :
  • The MORN (membrane occupation and recognition nexus) repeats contribute to the plasma membrane binding, possibly by interacting with phospholipids.
  • Belongs to the junctophilin family.
  • Contains 8 MORN repeats.
Domain:
  • The MORN (membrane occupation and recognition nexus) repeats contribute to the plasma membrane binding, possibly by interacting with phospholipids.
Family:
  • Belongs to the junctophilin family.
Similarity:
  • Contains 8 MORN repeats.
genes like me logo Genes that share domains with JPH4: view

No data available for Gene Families for JPH4 Gene

Function for JPH4 Gene

Molecular function for JPH4 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. JPH4 is brain-specific and appears to have an active role in certain neurons involved in motor coordination and memory (By similarity).
genes like me logo Genes that share phenotypes with JPH4: view

Animal Models for JPH4 Gene

MGI Knock Outs for JPH4:

Animal Model Products

miRNA for JPH4 Gene

miRTarBase miRNAs that target JPH4

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for JPH4 Gene

Localization for JPH4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for JPH4 Gene

Cell membrane; Peripheral membrane protein. Endoplasmic reticulum membrane; Single-pass type IV membrane protein. Note=Localized predominantly on the plasma membrane. The transmembrane domain is anchored in endoplasmic reticulum membrane, while the N-terminal part associates with the plasma membrane (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for JPH4 Gene COMPARTMENTS Subcellular localization image for JPH4 gene
Compartment Confidence
endoplasmic reticulum 5
cytosol 4
nucleus 4
plasma membrane 4
golgi apparatus 3
mitochondrion 1

Gene Ontology (GO) - Cellular Components for JPH4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005790 smooth endoplasmic reticulum IEA --
genes like me logo Genes that share ontologies with JPH4: view

Pathways & Interactions for JPH4 Gene

SuperPathways for JPH4 Gene

No Data Available

Interacting Proteins for JPH4 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000348648%0d%0a9606.ENSP00000305958%0d%0a9606.ENSP00000340019%0d%0a
Selected Interacting proteins: ENSP00000348648 for JPH4 Gene via STRING

Gene Ontology (GO) - Biological Process for JPH4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0050885 neuromuscular process controlling balance IEA --
genes like me logo Genes that share ontologies with JPH4: view

No data available for Pathways by source and SIGNOR curated interactions for JPH4 Gene

Drugs & Compounds for JPH4 Gene

(3) Drugs for JPH4 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for JPH4 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with JPH4: view

Transcripts for JPH4 Gene

Unigene Clusters for JPH4 Gene

Junctophilin 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for JPH4 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c · 10d · 10e ^ 11a · 11b · 11c ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15a ·
SP1: - - - - -
SP2: - -
SP3: - - - - - -
SP4: - -
SP5:
SP6:
SP7: - - - - -
SP8: - - - - -
SP9: -
SP10: - - - - -
SP11: -
SP12: - -
SP13: - - - - - -
SP14: - - - - -
SP15: - - - -
SP16: - -
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:
SP24:
SP25: - - - -
SP26:
SP27:
SP28: -
SP29:

ExUns: 15b · 15c ^ 16a · 16b · 16c ^ 17 ^ 18 ^ 19a · 19b · 19c · 19d · 19e ^ 20 ^ 21a · 21b · 21c · 21d · 21e ^ 22 ^ 23 ^ 24 ^ 25a · 25b ^ 26a · 26b ^ 27 ^
SP1: - - - - - - - -
SP2: - - - - - - -
SP3: - -
SP4: - - - -
SP5: - - - -
SP6: - - - -
SP7: - - - - -
SP8: - -
SP9: - -
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17: - - -
SP18:
SP19:
SP20: -
SP21:
SP22:
SP23:
SP24:
SP25:
SP26:
SP27: -
SP28:
SP29:

ExUns: 28 ^ 29 ^ 30a · 30b ^ 31 ^ 32a · 32b
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:
SP24:
SP25:
SP26:
SP27:
SP28:
SP29:

Relevant External Links for JPH4 Gene

GeneLoc Exon Structure for
JPH4
ECgene alternative splicing isoforms for
JPH4

Expression for JPH4 Gene

mRNA expression in normal human tissues for JPH4 Gene

mRNA differential expression in normal tissues according to GTEx for JPH4 Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x5.2), Brain - Cortex (x4.9), Brain - Anterior cingulate cortex (BA24) (x4.5), Brain - Frontal Cortex (BA9) (x4.5), Brain - Cerebellum (x4.5), and Brain - Cerebellar Hemisphere (x4.3).

Protein differential expression in normal tissues from HIPED for JPH4 Gene

This gene is overexpressed in Adipocyte (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for JPH4 Gene



SOURCE GeneReport for Unigene cluster for JPH4 Gene Hs.597841

genes like me logo Genes that share expression patterns with JPH4: view

Protein tissue co-expression partners for JPH4 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for JPH4 Gene

Orthologs for JPH4 Gene

This gene was present in the common ancestor of animals.

Orthologs for JPH4 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia JPH4 35
  • 93.21 (n)
  • 96.02 (a)
JPH4 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia JPH4 35
  • 94.21 (n)
  • 96.34 (a)
mouse
(Mus musculus)
Mammalia Jph4 35
  • 89.76 (n)
  • 96.18 (a)
Jph4 16
Jph4 36
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Jph4 35
  • 89.33 (n)
  • 96.16 (a)
oppossum
(Monodelphis domestica)
Mammalia JPH4 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia JPH4 36
  • 100 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia JPH4 36
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490043 35
  • 55.99 (n)
  • 57.78 (a)
fruit fly
(Drosophila melanogaster)
Insecta jp 36
  • 21 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea jph-1 36
  • 30 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 41 (a)
OneToMany
Species with no ortholog for JPH4:
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • zebrafish (Danio rerio)

Evolution for JPH4 Gene

ENSEMBL:
Gene Tree for JPH4 (if available)
TreeFam:
Gene Tree for JPH4 (if available)

Paralogs for JPH4 Gene

Paralogs for JPH4 Gene

(4) SIMAP similar genes for JPH4 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with JPH4: view

Variants for JPH4 Gene

Sequence variations from dbSNP and Humsavar for JPH4 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs744588 -- 23,579,756(+) CACTG(G/T)CTTCC upstream-variant-2KB
rs7141146 -- 23,573,203(+) CTTTG(G/T)GAGCC intron-variant
rs7161379 -- 23,576,528(+) CCAAG(C/G)GCCCC intron-variant
rs8009474 -- 23,573,970(+) cacac(A/G)cacTC intron-variant
rs10150089 -- 23,579,031(+) GAAGG(A/C)GGGGA upstream-variant-2KB

Variation tolerance for JPH4 Gene

Gene Damage Index Score: 1.75; 33.24% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for JPH4 Gene

HapMap Linkage Disequilibrium report
JPH4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for JPH4 Gene

Disorders for JPH4 Gene

Relevant External Links for JPH4

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
JPH4

No disorders were found for JPH4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for JPH4 Gene

Publications for JPH4 Gene

  1. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11347906) Nagase T. … Ohara O. (DNA Res. 2001) 2 3 4 67
  2. Presenilin/gamma-secretase cleaves CD46 in response to Neisseria infection. (PMID: 20018629) Weyand N.J. … So M. (J. Immunol. 2010) 23
  3. Histone deacetylase inhibitor valproic acid inhibits cancer cell proliferation via down-regulation of the alzheimer amyloid precursor protein. (PMID: 20145244) Venkataramani V. … Bayer T.A. (J. Biol. Chem. 2010) 23
  4. Quantitative analyses of kidney injury molecule-1 messenger RNA in kidney transplant recipients with graft dysfunction. (PMID: 20304168) Nogare A.L. … Manfro R.C. (Transplant. Proc. 2010) 23
  5. New molecular components supporting ryanodine receptor-mediated Ca(2+) release: roles of junctophilin and TRIC channel in embryonic cardiomyocytes. (PMID: 19095005) Yamazaki D. … Takeshima H. (Pharmacol. Ther. 2009) 3

Products for JPH4 Gene

Sources for JPH4 Gene

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