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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
  • Junctophilin-4 3
  • 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).

Additional gene information for JPH4 Gene

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

Genomics for JPH4 Gene

GeneHancer (GH) Regulatory Elements for JPH4 Gene

Promoters and enhancers for JPH4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14I023577 Promoter/Enhancer 1.2 EPDnew ENCODE 555.5 +0.0 14 2.2 MXI1 ETV1 ZFHX2 POLR2A EZH2 MAZ ZNF189 NFIA ZNF398 GABPA JPH4 ZFHX2 ZFHX2-AS1 DHRS4-AS1 AP1G2
GH14I023578 Enhancer 0.4 ENCODE 550.8 +1.6 1623 0.2 MXI1 NBN EZH2 JPH4 AP1G2
GH14I023579 Enhancer 0.4 ENCODE 550.8 +1.3 1333 0.2 MXI1 EZH2 JPH4 AP1G2
GH14I022976 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.7 +598.9 598894 7.6 MLX ZFP64 FEZF1 DMAP1 YBX1 IRF4 YY1 SLC30A9 E2F8 ZNF143 AJUBA ACIN1 NGDN PRMT5 C14orf93 HAUS4 RBM23 LOC102724814 PABPN1 MMP14
GH14I024364 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 12.7 -789.2 -789206 6.1 HDGF PKNOX1 MLX ARID4B NEUROD1 SIN3A DMAP1 YBX1 ZNF2 ZBTB7B NFATC4 ADCY4 SDR39U1 RIPK3 NYNRIN JPH4 CBLN3 KHNYN TGM1 LTB4R
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around JPH4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the JPH4 gene promoter:

Genomic Locations for JPH4 Gene

Genomic Locations for JPH4 Gene
chr14:23,568,035-23,578,800
(GRCh38/hg38)
Size:
10,766 bases
Orientation:
Minus strand
chr14:24,037,244-24,048,009
(GRCh37/hg19)

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

Post-translational modifications for JPH4 Gene

No Post-translational modifications

Other Protein References for JPH4 Gene

No data available for DME Specific Peptides for JPH4 Gene

Domains & Families for JPH4 Gene

Gene Families for JPH4 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

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.
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.
genes like me logo Genes that share domains with JPH4: view

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).

Phenotypes From GWAS Catalog for JPH4 Gene

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

Inhibitory RNA Products

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
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 JPH4 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 4
nucleus 4
cytosol 4
golgi apparatus 3
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for JPH4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005790 smooth endoplasmic reticulum IEA --
GO:0005886 plasma membrane IEA --
GO:0014701 junctional sarcoplasmic reticulum membrane TAS 19095005
genes like me logo Genes that share ontologies with JPH4: view

Pathways & Interactions for JPH4 Gene

No Data Available

Interacting Proteins for JPH4 Gene

Gene Ontology (GO) - Biological Process for JPH4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001817 regulation of cytokine production IEA --
GO:0007612 learning IEA --
GO:0048167 regulation of synaptic plasticity IEA --
GO:0050885 neuromuscular process controlling balance IEA --
GO:0060314 regulation of ryanodine-sensitive calcium-release channel activity TAS 19095005
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

(4) Drugs for JPH4 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with JPH4: view

Transcripts for JPH4 Gene

Unigene Clusters for JPH4 Gene

Junctophilin 4:
Representative Sequences:

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for JPH4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of JPH4 Gene:

JPH4

SOURCE GeneReport for Unigene cluster for JPH4 Gene:

Hs.597841

Evidence on tissue expression from TISSUES for JPH4 Gene

  • Nervous system(4.9)
genes like me logo Genes that share expression patterns with JPH4: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia JPH4 34
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia JPH4 33
  • 94.21 (n)
cow
(Bos Taurus)
Mammalia JPH4 33 34
  • 93.21 (n)
mouse
(Mus musculus)
Mammalia Jph4 33 16 34
  • 89.76 (n)
rat
(Rattus norvegicus)
Mammalia Jph4 33
  • 89.33 (n)
oppossum
(Monodelphis domestica)
Mammalia JPH4 34
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia JPH4 34
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490043 33
  • 55.99 (n)
fruit fly
(Drosophila melanogaster)
Insecta jp 34
  • 21 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea jph-1 34
  • 30 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 41 (a)
OneToMany
Species where no ortholog for JPH4 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)
  • 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 Variation AA Info Type
rs1000130078 -- 23,569,116(-) C/A/T 3_prime_UTR_variant
rs1000175614 -- 23,569,344(-) G/A 3_prime_UTR_variant
rs1000189645 -- 23,572,470(-) G/A intron_variant
rs1000255769 -- 23,569,757(-) A/T intron_variant
rs1000310383 -- 23,568,726(-) C/A 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for JPH4 Gene

Variant ID Type Subtype PubMed ID
nsv952817 CNV deletion 24416366
nsv564044 CNV loss 21841781
nsv475866 CNV novel sequence insertion 20440878

Variation tolerance for JPH4 Gene

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

Additional Variant Information for JPH4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
JPH4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for JPH4 Gene

Disorders for JPH4 Gene

Additional Disease Information for 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 research : an international journal for rapid publication of reports on genes and genomes 2001) 2 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. Quantitative analyses of kidney injury molecule-1 messenger RNA in kidney transplant recipients with graft dysfunction. (PMID: 20304168) Nogare AL … Manfro RC (Transplantation proceedings 2010) 22 58

Products for JPH4 Gene

Sources for JPH4 Gene

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