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Aliases for JPH3 Gene

Aliases for JPH3 Gene

  • Junctophilin 3 2 3
  • JP3 3 4 6
  • Trinucleotide Repeat Containing 22 2 3
  • Junctophilin Type 3 3 4
  • TNRC22 3 4
  • HDL2 3 6
  • JP-3 3 4
  • Trinucleotide Repeat-Containing Gene 22 Protein 4
  • Junctophilin-3 3
  • CAGL237 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 expansions at the Huntington's disease (HD)-like 2 locus have been identified in this gene, which is a member of the junctophilin gene family. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2012]

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 JPH2.

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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for JPH3 Gene

Genomics for JPH3 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for JPH3 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for JPH3 Gene at MOPED

Post-translational modifications for JPH3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for JPH3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for JPH3 Gene

Domains 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 :
  • Q8WXH2
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 JPH3: view

No data available for Gene Families for JPH3 Gene

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

Animal Models for JPH3 Gene

MGI Knock Outs for JPH3:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for JPH3

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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
Jensen Localization Image for JPH3 Gene COMPARTMENTS Subcellular localization image for JPH3 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 5
cytosol 3
extracellular 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for JPH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum --
GO:0005789 endoplasmic reticulum membrane --
GO:0005886 plasma membrane IEA --
GO:0014701 junctional sarcoplasmic reticulum membrane TAS 19095005
GO:0016021 integral component of membrane NAS 10891348
genes like me logo Genes that share ontologies with JPH3: view

Pathways for JPH3 Gene

SuperPathways for JPH3 Gene

No Data Available

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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 for JPH3 Gene

Compounds for JPH3 Gene

(1) Novoseek inferred chemical compound relationships for JPH3 Gene

Compound -log(P) Hits PubMed IDs
it 15 90 2
genes like me logo Genes that share compounds with JPH3: view

Transcripts for JPH3 Gene

mRNA/cDNA for JPH3 Gene

(4) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for JPH3 Gene

Junctophilin 3:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for JPH3

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for JPH3

Flow Cytometry 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 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 (6.6), Brain - Frontal Cortex (BA9) (5.8), Brain - Anterior cingulate cortex (BA24) (5.7), Brain - Hippocampus (5.6), Brain - Amygdala (4.6), and Brain - Nucleus accumbens (basal ganglia) (4.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for JPH3 Gene

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.
genes like me logo Genes that share expressions with JPH3: view

In Situ Assay Products

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 35
  • 98.91 (n)
  • 99.35 (a)
JPH3 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia JPH3 35
  • 90.86 (n)
  • 91.58 (a)
JPH3 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia JPH3 35
  • 90.24 (n)
  • 91.44 (a)
JPH3 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Jph3 35
  • 88.8 (n)
  • 92.55 (a)
Jph3 16
Jph3 36
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia JPH3 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia JPH3 36
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Jph3 35
  • 88.83 (n)
  • 92.87 (a)
chicken
(Gallus gallus)
Aves JPH3 35
  • 83.38 (n)
  • 88.5 (a)
JPH3 36
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia jph3 35
  • 78.21 (n)
  • 90.7 (a)
zebrafish
(Danio rerio)
Actinopterygii jph3 36
  • 66 (a)
OneToMany
JPH3 (2 of 2) 36
  • 48 (a)
OneToMany
LOC569861 35
  • 69.06 (n)
  • 72.18 (a)
fruit fly
(Drosophila melanogaster)
Insecta jp 36
  • 25 (a)
OneToMany
jp 37
  • 48 (a)
worm
(Caenorhabditis elegans)
Secernentea jph-1 36
  • 34 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 56 (a)
OneToMany
Species with no ortholog for JPH3:
  • 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

Selected 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

Q8WXH2-JPH3_HUMAN
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 MAF
rs733717 -- 87,648,394(-) CGCCC(A/G)GGGCC intron-variant
rs745000 -- 87,621,561(+) GAAAC(A/G)CACCC intron-variant
rs748552 -- 87,649,403(-) GAGGC(A/G)TTCAG intron-variant
rs748553 -- 87,649,385(-) AGCGC(C/T)GTGCA intron-variant
rs748554 -- 87,649,169(-) CTCAC(A/C)TGACC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv907153 CNV Loss 21882294
nsv428330 CNV Gain 18775914
nsv907165 CNV Loss 21882294
nsv907166 CNV Loss 21882294
nsv510695 CNV Loss 20534489
dgv503n67 CNV Gain 20364138
esv24856 CNV Loss 19812545
nsv907167 CNV Loss 21882294
dgv2952n71 CNV Loss 21882294
dgv2953n71 CNV Loss 21882294
esv2669244 CNV Deletion 23128226
esv2714925 CNV Deletion 23290073
esv2714926 CNV Deletion 23290073
dgv2954n71 CNV Loss 21882294
nsv827816 CNV Gain 20364138
nsv907174 CNV Loss 21882294
nsv907175 CNV Loss 21882294
dgv2955n71 CNV Loss 21882294
nsv907177 CNV Loss 21882294
nsv907182 CNV Loss 21882294
nsv527983 CNV Loss 19592680
nsv471110 CNV Loss 18288195
esv2714927 CNV Deletion 23290073
nsv103793 CNV Loss 16902084
nsv103166 CNV Loss 16902084
dgv2956n71 CNV Loss 21882294
dgv2957n71 CNV Loss 21882294
esv2658391 CNV Deletion 23128226
esv990733 CNV Deletion 20482838
esv29774 CNV Loss 19812545
esv2714928 CNV Deletion 23290073
esv2229873 CNV Deletion 18987734
esv2677149 CNV Deletion 23128226
esv1008276 CNV Insertion 20482838
esv2714930 CNV Deletion 23290073
esv2714931 CNV Deletion 23290073
dgv504n67 CNV Gain 20364138

Relevant External Links for JPH3 Gene

HapMap Linkage Disequilibrium report
JPH3
Human Gene Mutation Database (HGMD)
JPH3

Disorders for JPH3 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for JPH3 Gene including...

Search for JPH3 Gene in MalaCards »

(1) OMIM Diseases for JPH3 Gene (605268)

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.

(5) Novoseek inferred disease relationships for JPH3 Gene

Disease -log(P) Hits PubMed IDs
huntington disease-like 2 99 3
sca17 94.7 2
drpla 85.3 3
huntington disease 84.2 4
neurodegenerative diseases 56.1 2

Relevant External Links for JPH3

GeneTests
JPH3
GeneReviews
JPH3
Genetic Association Database (GAD)
JPH3
Human Genome Epidemiology (HuGE) Navigator
JPH3
genes like me logo Genes that share disorders with JPH3: view

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 23
  2. A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2. (PMID: 11694876) Holmes S.E. … Margolis R.L. (Nat. Genet. 2001) 3 4 23
  3. 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 23
  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 23 48
  5. 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 23 48

Products for JPH3 Gene

Sources for JPH3 Gene

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