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Aliases for JPH3 Gene

Aliases for JPH3 Gene

  • Junctophilin 3 2 3 5
  • Trinucleotide Repeat Containing 22 2 3
  • Junctophilin Type 3 3 4
  • TNRC22 3 4
  • JP-3 3 4
  • JP3 3 4
  • Trinucleotide Repeat-Containing Gene 22 Protein 4
  • Junctophilin-3 3
  • CAGL237 3
  • HDL2 3

External Ids for JPH3 Gene

Previous HGNC Symbols for JPH3 Gene

  • TNRC22

Previous GeneCards Identifiers for JPH3 Gene

  • GC16P078973
  • GC16P088667
  • GC16P087377
  • GC16P087417
  • GC16P086194
  • GC16P073377

Summaries for JPH3 Gene

Entrez Gene Summary for JPH3 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. CAG/CTG repeat expansion from normally 6-28 repeats to 40-59 repeats in the 3' UTR of this gene have been associated with Huntington disease-like 2 (HDL2). This gene is a member of the junctophilin gene family. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2016]

GeneCards Summary for JPH3 Gene

JPH3 (Junctophilin 3) is a Protein Coding gene. Diseases associated with JPH3 include Huntington Disease-Like 2 and Huntington Disease. GO annotations related to this gene include calcium-release channel activity. An important paralog of this gene is JPH1.

UniProtKB/Swiss-Prot for JPH3 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. JPH3 is brain-specific and appears to have an active role in certain neurons involved in motor coordination and memory.

Gene Wiki entry for JPH3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for JPH3 Gene

Genomics for JPH3 Gene

Regulatory Elements for JPH3 Gene

Enhancers for JPH3 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
GH16G087574 1 ENCODE 12.1 -26.4 -26390 1.2 ARID4B SIN3A ZNF48 SLC30A9 ZNF766 ZNF143 ZNF263 NCOA1 MXD4 MIER2 JPH3 LOC100129215 KLHDC4 PIR35253
GH16G087550 0.8 ENCODE 11.6 -51.3 -51286 0.2 RB1 AGO1 RAD21 EGR1 SCRT2 ZNF143 PCBP1 EGR2 SMARCC1 SP5 JPH3 FBXO31 PIR35253
GH16G087507 0.8 Ensembl 11.5 -94.2 -94193 1.1 ZFP64 YY1 ZNF335 SCRT2 FOS MIXL1 KAT8 ZNF580 HNF4A ZBTB17 JPH3 LOC100129215 PIR35253 LOC101928737
GH16G087540 1.4 FANTOM5 Ensembl ENCODE 4 -60.5 -60531 1.9 ZFP64 ZBTB40 YY1 FOS EGR2 ZNF263 OVOL3 ZNF398 NR2F2 CEBPA ZCCHC14 JPH3 C16orf95 PIR35253
GH16G087576 0.4 ENCODE 12.1 -25.4 -25426 0.2 ZNF610 EGR1 JPH3 KLHDC4 MAP1LC3B PIR35253
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around JPH3 on UCSC Golden Path with GeneCards custom track

Genomic Location for JPH3 Gene

Chromosome:
16
Start:
87,601,835 bp from pter
End:
87,698,156 bp from pter
Size:
96,322 bases
Orientation:
Plus strand

Genomic View for JPH3 Gene

Genes around JPH3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
JPH3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for JPH3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for JPH3 Gene

Proteins for JPH3 Gene

  • Protein details for JPH3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WXH2-JPH3_HUMAN
    Recommended name:
    Junctophilin-3
    Protein Accession:
    Q8WXH2
    Secondary Accessions:
    • D3DUN2
    • Q8N471
    • Q9HDC3
    • Q9HDC4

    Protein attributes for JPH3 Gene

    Size:
    748 amino acids
    Molecular mass:
    81469 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for JPH3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for JPH3 Gene

Post-translational modifications for JPH3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for JPH3 Gene

No data available for DME Specific Peptides for JPH3 Gene

Domains & Families for JPH3 Gene

Gene Families for JPH3 Gene

Protein Domains for JPH3 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for JPH3 Gene

Graphical View of Domain Structure for InterPro Entry

Q8WXH2

UniProtKB/Swiss-Prot:

JPH3_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 JPH3: view

Function for JPH3 Gene

Molecular function for JPH3 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. JPH3 is brain-specific and appears to have an active role in certain neurons involved in motor coordination and memory.

Gene Ontology (GO) - Molecular Function for JPH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0015278 calcium-release channel activity IEA --
genes like me logo Genes that share ontologies with JPH3: view
genes like me logo Genes that share phenotypes with JPH3: view

Human Phenotype Ontology for JPH3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for JPH3 Gene

MGI Knock Outs for JPH3:

Animal Model Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for JPH3 Gene

Localization for JPH3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for JPH3 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 JPH3 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 JPH3 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 JPH3: view

Pathways & Interactions for JPH3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for JPH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007612 learning IEA --
GO:0007613 memory IEA --
GO:0035640 exploration behavior IEA --
GO:0040011 locomotion IEA --
GO:0048168 regulation of neuronal synaptic plasticity IEA --
genes like me logo Genes that share ontologies with JPH3: view

No data available for Pathways by source and SIGNOR curated interactions for JPH3 Gene

Drugs & Compounds for JPH3 Gene

(1) Additional Compounds for JPH3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with JPH3: view

Transcripts for JPH3 Gene

Unigene Clusters for JPH3 Gene

Junctophilin 3:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for JPH3 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
SP1:
SP2: - -
SP3: -
SP4:
SP5:
SP6:

Relevant External Links for JPH3 Gene

GeneLoc Exon Structure for
JPH3
ECgene alternative splicing isoforms for
JPH3

Expression for JPH3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for JPH3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for JPH3 Gene

This gene is overexpressed in Brain - Cortex (x6.6), Brain - Frontal Cortex (BA9) (x5.8), Brain - Anterior cingulate cortex (BA24) (x5.7), Brain - Hippocampus (x5.6), Brain - Amygdala (x4.6), and Brain - Nucleus accumbens (basal ganglia) (x4.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for JPH3 Gene



Protein tissue co-expression partners for JPH3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of JPH3 Gene:

JPH3

SOURCE GeneReport for Unigene cluster for JPH3 Gene:

Hs.592068

mRNA Expression by UniProt/SwissProt for JPH3 Gene:

Q8WXH2-JPH3_HUMAN
Tissue specificity: Specifically expressed in brain.

Evidence on tissue expression from TISSUES for JPH3 Gene

  • Nervous system(4.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for JPH3 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • cerebellum
  • head
General:
  • spinal cord
genes like me logo Genes that share expression patterns with JPH3: view

Primer Products

No data available for Protein differential expression in normal tissues for JPH3 Gene

Orthologs for JPH3 Gene

This gene was present in the common ancestor of animals.

Orthologs for JPH3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia JPH3 34 35
  • 98.91 (n)
cow
(Bos Taurus)
Mammalia JPH3 34 35
  • 90.86 (n)
dog
(Canis familiaris)
Mammalia JPH3 34 35
  • 90.24 (n)
oppossum
(Monodelphis domestica)
Mammalia JPH3 35
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Jph3 34
  • 88.83 (n)
mouse
(Mus musculus)
Mammalia Jph3 34 16 35
  • 88.8 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia JPH3 35
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves JPH3 34 35
  • 83.38 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia jph3 34
  • 78.21 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC569861 34
  • 69.06 (n)
jph3 35
  • 66 (a)
OneToMany
JPH3 (2 of 2) 35
  • 48 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta jp 36 35
  • 48 (a)
worm
(Caenorhabditis elegans)
Secernentea jph-1 35
  • 34 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 56 (a)
OneToMany
Species where no ortholog for JPH3 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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 JPH3 Gene

ENSEMBL:
Gene Tree for JPH3 (if available)
TreeFam:
Gene Tree for JPH3 (if available)

Paralogs for JPH3 Gene

Paralogs for JPH3 Gene

(5) SIMAP similar genes for JPH3 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with JPH3: view

Variants for JPH3 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for JPH3 Gene

JPH3_HUMAN-Q8WXH2
Isoform 2 length of the poly-Ala region is variable (6 to 27 CTG/CAG triplets) in the normal population and may be expanded (41 to 58 CTG/CAG triplets) in patients suffering from Huntington disease-like type 2.

Sequence variations from dbSNP and Humsavar for JPH3 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs1000001462 -- 87,691,319(+) GAAGG(A/G)CTGTG intron-variant
rs1000033381 -- 87,616,463(+) GCCAG(A/G)ATGGT intron-variant
rs1000047395 -- 87,612,278(+) ACCCC(C/T)ATGCC intron-variant
rs1000049169 -- 87,657,089(+) TAGGA(A/T)CCTGA intron-variant
rs1000049223 -- 87,678,897(+) ATGGA(C/T)GGGAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for JPH3 Gene

Variant ID Type Subtype PubMed ID
dgv503n67 CNV gain 20364138
dgv504n67 CNV gain 20364138
dgv871e212 CNV loss 25503493
esv1008276 CNV insertion 20482838
esv2229873 CNV deletion 18987734
esv24856 CNV loss 19812545
esv2658391 CNV deletion 23128226
esv2669244 CNV deletion 23128226
esv2677149 CNV deletion 23128226
esv2714925 CNV deletion 23290073
esv2714926 CNV deletion 23290073
esv2714927 CNV deletion 23290073
esv2714928 CNV deletion 23290073
esv2714930 CNV deletion 23290073
esv2714931 CNV deletion 23290073
esv29774 CNV loss 19812545
esv3553849 CNV deletion 23714750
esv3639521 CNV gain 21293372
esv3639522 CNV loss 21293372
esv3639523 CNV loss 21293372
esv990733 CNV deletion 20482838
nsv103166 CNV deletion 16902084
nsv103793 CNV deletion 16902084
nsv1062946 CNV gain 25217958
nsv1070780 CNV deletion 25765185
nsv1136224 CNV deletion 24896259
nsv1138482 CNV deletion 24896259
nsv1138483 CNV deletion 24896259
nsv1144778 CNV deletion 24896259
nsv428330 CNV gain 18775914
nsv471110 CNV loss 18288195
nsv510695 CNV deletion 20534489
nsv527983 CNV loss 19592680
nsv573534 CNV loss 21841781
nsv827816 CNV gain 20364138
nsv952065 CNV deletion 24416366

Variation tolerance for JPH3 Gene

Residual Variation Intolerance Score: 67.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.29; 53.09% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for JPH3 Gene

Human Gene Mutation Database (HGMD)
JPH3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
JPH3

Disorders for JPH3 Gene

MalaCards: The human disease database

(10) MalaCards diseases for JPH3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
huntington disease-like 2
  • hdl2
huntington disease
  • congenital anomalies of kidney and urinary tract 2
spinocerebellar ataxia 17
  • spinocerebellar ataxia type 17
choreoacanthocytosis
  • neuroacanthocytosis
dentatorubro-pallidoluysian atrophy
  • dentatorubral-pallidoluysian atrophy
- elite association - COSMIC cancer census association via MalaCards
Search JPH3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

JPH3_HUMAN
  • Huntington disease-like 2 (HDL2) [MIM:606438]: Huntington disease (HD) is a neurodegenerative disorder resulting primarily from the loss of medium spiny projection neurons in the striatum, especially in the caudate nucleus, and, to a lesser extent, atrophy of mesencephalic and cortical structures. The typical clinical picture of HD combines familial adult onset chorea and subcortical dementia that usually begin during the fourth decade of life. {ECO:0000269 PubMed:11914418, ECO:0000269 PubMed:14557581}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for JPH3

Genetic Association Database (GAD)
JPH3
Human Genome Epidemiology (HuGE) Navigator
JPH3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
JPH3
genes like me logo Genes that share disorders with JPH3: view

No data available for Genatlas for JPH3 Gene

Publications for JPH3 Gene

  1. Characterization of human junctophilin subtype genes. (PMID: 10891348) Nishi M. … Takeshima H. (Biochem. Biophys. Res. Commun. 2000) 2 3 4 22 64
  2. Searching for mutation in the JPH3, ATN1 and TBP genes in Polish patients suspected of Huntington's disease and without mutation in the IT15 gene. (PMID: 18651325) SuA8ek-Piatkowska A. … Zaremba J. (Neurol. Neurochir. Pol. 2008) 3 22 46 64
  3. Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype. (PMID: 16858508) Costa M.d.o. .C. … Maciel P. (J. Hum. Genet. 2006) 3 22 46 64
  4. Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes. (PMID: 12805114) Stevanin G. … Durr A. (Brain 2003) 3 22 46 64
  5. CAG/CTG repeat expansions at the Huntington's disease-like 2 locus are rare in Huntington's disease patients. (PMID: 11914418) Stevanin G. … Brice A. (Neurology 2002) 3 4 22 64

Products for JPH3 Gene

Sources for JPH3 Gene

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