Aliases &
Descriptions
for JPH3 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase)
About This Section
|
| Aliases & Descriptions |
|---|
| junctophilin 31 2 | | Junctophilin type 32 3 | | JP31 2 3 5 | | TNRC222 3 | | JP-31 2 3 | | FLJ447072 | | HDL21 2 5 | | junctophilin-32 | | trinucleotide repeat containing 221 2 | | Trinucleotide repeat-containing gene 22 protein3 | | CAGL2371 2 | | |
Export aliases for JPH3 gene to outside databasesPrevious GC identifers: GC16P078973 GC16P088667 GC16P087377 GC16P087417 GC16P086194 GC16P087636 |
Summaries
for JPH3 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for JPH3:
Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of allexcitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encodedby this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning theendoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for theplasma membrane. CAG/CTG repeat expansions at the Huntington's disease (HD)-like 2 locus have been identified in thisgene, which is a member of the junctophilin gene family. (provided by RefSeq)
UniProtKB/Swiss-Prot: JPH3_HUMAN, Q8WXH2Function: Contributes to the stabilization of the junctional membrane complexes, which are common to excitable cellsand mediate cross-talk between cell surface and intracellular ion channels. Probably acts by anchoring the plasmamembrane and endoplasmic reticulum. May play an active role in certain neurons involved in motor coordination (Bysimilarity)
Gene Wiki entry for JPH3 |
Genomic Views
for JPH3 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 60),
Regulatory elements and Epigenetics data according to
Qiagen and/or
SABiosciences)
About This Section
|
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the JPH3 gene promoter:
TBP TFIID AREB6 YY1 NF-kappaB NF-kappaB1 NF-kappaB2 PPAR-gamma1 PPAR-gamma2 NF-1
Other transcription factors
Search SABiosciences Chromatin IP Primers for JPH3
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for JPH3  |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 16q24.3 Ensembl cytogenetic band: 16q24.2 HGNC cytogenetic band: 16q24.3JPH3 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc gene densities for chromosome 16 GeneLoc Exon Structure GeneLoc location for GC16P073377: view genomic region
(about GC identifiers)
Start:
|
73,377,449 bp from pter |
End:
|
73,472,834 bp from pter |
Size:
|
95,386 bases |
Orientation:
|
plus strand |
1 alternative location:
| Chr16+ 87,636,499-87,731,762 |
RefSeq DNA sequence:- NC_000016.9 NT_010498.15
|
Proteins
for JPH3 gene
(According to
1UniProtKB,
neXtProt,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological, and/or
ProSpec,
Biochemical Assays by
Millipore,
Sigma-Aldrich,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Dec 2010 and
Entrez Gene,
Antibodies by
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals, and/or
Epitomics)
About This Section
|
UniProtKB/Swiss-Prot: JPH3_HUMAN, Q8WXH2 (See
protein sequence)Recommended Name: Junctophilin-3 Size: 748 amino acids; 81469 Da
Subcellular location: Cell membrane; Peripheral membrane protein (By similarity). Endoplasmic reticulum membrane;Single-pass type IV membrane protein (By similarity). Note=Localized predominantly on the plasma membrane. Thetransmembrane domain is anchored in endoplasmic reticulum membrane, while the N-terminal part associates with theplasma membrane (By similarity)
Secondary accessions: Q8N471 Q9HDC3 Q9HDC4Alternative splicing: 2 isoforms: Q8WXH2-1 Q8WXH2-2 (Additional isoforms seem to exist)Explore the universe of human proteins at neXtProt for JPH3: NX_Q8WXH2
Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_065706.2
ENSEMBL proteins: ENSP00000376916 ENSP00000284262 ENSP00000301008
Human Recombinant Proteins
5/6 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 6): About this table
JPH3 for ontologies About GeneDecksing
Antibodies for JPH3:
Assays for JPH3: |
Protein
Domains/
Families
for JPH3 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
JPH3 for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q8WXH2ProtoNet protein and cluster: Q8WXH2 1 Blocks protein family: IPB003409 MORN motif
UniProtKB/Swiss-Prot: JPH3_HUMAN, Q8WXH2Domain: The MORN (membrane occupation and recognition nexus) repeats contribute to the plasma membrane binding,possibly by interacting with phospholipids (By similarity)Similarity: Belongs to the junctophilin familySimilarity: Contains 8 MORN repeats |
Gene Function
for JPH3 gene
(According to UniProtKB,
IUBMB,and/or
Genatlas, Animal models from MGI Dec 24 2010,
shRNA from
OriGene,
Sigma-Aldrich,
RNAi from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Clones from Millipore,
Sigma-Aldrich,
OriGene,
GenScript,
Sino Biological,
Cell Lines from GenScript,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene.)
About This Section
|
UniProtKB/Swiss-Prot: JPH3_HUMAN, Q8WXH2Function: Contributes to the stabilization of the junctional membrane complexes, which are common to excitable cellsand mediate cross-talk between cell surface and intracellular ion channels. Probably acts by anchoring the plasmamembrane and endoplasmic reticulum. May play an active role in certain neurons involved in motor coordination (Bysimilarity)
1 Gene Ontology (GO) molecular function term (GO ID links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0003674 | molecular_function |
ND | -- |
About this table
JPH3 for ontologies About GeneDecksing
Animal Models: 5 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Jph3):
JPH3 for phenotypes About GeneDecksing
|
Pathways & Interactions
for JPH3 gene
(Pathways according to
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
PCR Arrays from
SABiosciences,
Proteins Network according to
SABiosciences,
Sigma-Aldrich,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene).
About This Section
|
SABiosciences Pathway-Focused PCR Array including JPH3: PAHS-3401A
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for JPH3
2 Interacting proteins for JPH3 (Q8WXH21, 2) via UniProtKB, MINT, and/or STRINGAbout this table
3 Gene Ontology (GO) biological process terms (GO ID links to tree view): About this table
JPH3 for ontologies About GeneDecksing
|
Drugs & Compounds
for JPH3 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
JPH3 for compounds About GeneDecksing
 Browse Tocris compounds for JPH3
1  Novoseek chemical compound relationship for JPH3 gene
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| it 15 |
90 |
2 |
11914418 (1), 18651325 (1) |
About this table
|
Transcripts
for JPH3 gene(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Tagged/untagged cDNA clones from
OriGene,
Sigma-Aldrich,
GenScript,
Primers from
OriGene and/or
SABiosciences)
About This Section
|
REFSEQ mRNAs for JPH3 gene: NM_020655.2 Additional cDNA sequence: AB042636.1 AK055486.1 AK126663.1 AK295518.1 AK297215.1 BC008690.1 BC036533.2 CR613927.1 5 DOTS entries: DT.113712 DT.97806098 DT.70104213 DT.95139156 DT.40226252 1 AceView cDNA sequence: U80757
 highest scoring ESTs for JPH3:AI869975 AA350130 AA351118 AB042636 AI206926 AI366528 AI869958 AI962207 AI962553 AK055486 Unigene Cluster for JPH3: Junctophilin 3 Hs.725123 [show with all ESTs]Unigene Representative Sequence: AK126663
GeneLoc Exon Structure
5/6 Alternative Splicing Database (ASD) splice patterns (SP) for JPH3 (see all 6)
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | - | | - | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | - | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | |
About this scheme
ECgene alternative splicing isoforms for JPH3
3 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000393224 ENST00000284262(uc010vou.1 uc002fkd.2) ENST00000301008
|
Expression
for JPH3 gene
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 228 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Primers from
OriGene and/or
SABiosciences
)
About This Section
| JPH3 expression in normal and diseased human tissues
1 / 2 / 3 8 probe-sets matching JPH3 gene
Affymetrix
probe-set |
Array |
GeneAnnot data |
GeneNote data |
GeneTide data |
| # genes |
Sensitivity |
Specificity |
Correlation |
Length |
Gb_Accession |
Consensus |
Uniqueness |
Score |
Rank |
| 62166_at2, 3
|
U95-C |
1 |
0.88 |
1.00 |
0.92 |
1.49 |
AI869975 |
1.00 |
1.00 |
1.00 |
1 |
| 33065_at*2, 3
|
U95-A |
1 |
-- |
-- |
0.25 |
0.55 |
U80757 |
0.60 |
1.00 |
0.82 |
1 |
| 220188_at2, 3
|
U133-A |
1 |
1.00 |
1.00 |
-- |
-- |
NM_020655 |
0.60 |
1.00 |
0.82 |
1 |
| 229294_at2, 3
|
U133-B |
1 |
0.91 |
1.00 |
-- |
-- |
AL537395 |
0.80 |
1.00 |
0.91 |
1 |
| 243679_at2, 3
|
U133-B |
1 |
0.27 |
1.00 |
-- |
-- |
AI680727 |
0.60 |
1.00 |
0.82 |
1 |
| 220188_at2
|
U133Plus2 |
1 |
1.00 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 229294_at2
|
U133Plus2 |
1 |
0.91 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 243679_at2
|
U133Plus2 |
1 |
0.27 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
About this table
JPH3 for expression About GeneDecksing
Data from
Genenote
(Publications) and GNF BioGPS
About these images
About these images
CGAP SAGE TAG: TTCCAGTTAA
SOURCE GeneReport for Unigene cluster: Hs.725123
Expression variation in blood from EXPOLDB for JPH3 UniProtKB/Swiss-Prot: JPH3_HUMAN, Q8WXH2Tissue specificity: Specifically expressed in brain
SABiosciences Expression via Pathway-Focused PCR Array including JPH3: PAHS-3401A
|
Orthologs
for JPH3 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Dec 24 2010,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for JPH3 gene from 5/8 species (see all 8)
About this table Species with no ortholog for JPH3
ENSEMBL Gene Tree for JPH3 (if available) |
Paralogs
for JPH3 gene(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
| Paralogs for JPH3 gene
- JPH22 JPH42 JPH12 ALS22
JPH3 for paralogs About GeneDecksing
|
Genomic Variants
for JPH3 gene(SNPs according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section
|
UniProtKB/Swiss-Prot: JPH3_HUMAN, Q8WXH2Polymorphism: Isoform 2 length of the poly-Ala region is variable (6 to 27 CTG/CAG triplets) in the normal populationand may be expanded (41 to 58 CTG/CAG triplets) in patients suffering from Huntington disease-like type 2
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for JPH3
1 CNV: 72667
2 Indels: 72668 45483
| | QIAGEN SeqTarget long-range PCR primers for resequencing JPH3 |
|
Disorders & Mutations
for JPH3 gene
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
LSDB, HGMD, GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
JPH3 for disorders About GeneDecksing
OMIM: 605268 disorders: 606438 UniProtKB/Swiss-Prot: JPH3_HUMAN, Q8WXH2
Defects in JPH3 are the cause of Huntington disease-like type 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. Thetypical clinical picture of HD combines familial adult onset chorea and subcortical dementia that usually begin duringthe fourth decade of life
5 Novoseek disease relationships for JPH3 gene
About this table
GeneTests: JPH3
Huntington Disease-Like 2
Human Gene Mutation Database (HGMD): JPH3
Genetic Association Database (GAD): JPH3
Human Genome Epidemiology (HuGE) Navigator: JPH3 (8 documents)
Export disorders and mutations for JPH3 gene to outside databases
|
Medical News
for JPH3 gene(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications
for JPH3 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6UniProtKB/TrEMBL, and/or
7Novoseek)
About This Section
|
10/33 PubMed articles for JPH3 gene, integrated from 7 sources (see all 33):
(articles sorted by number of sources associating them with JPH3)- Characterization of human junctophilin subtype genes. (PubMed id 10891348)1, 2, 3, 7 Nishi M....Takeshima H. (2000)
- Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes. (PubMed id 12805114)1, 4, 7 Stevanin G....Durr A. (2003)
- A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2. (PubMed id 11694876)1, 2, 7 Holmes S.E.... Margolis R.L. (2001)
- CAG/CTG repeat expansions at the Huntington's disease-like 2 locus are rare in Huntington's disease patients. (PubMed id 11914418)1, 2, 7 Stevanin G.... Brice A. (2002)
- JP-3 gene polymorphism in a healthy population of Serbia and Montenegro. (PubMed id 15876586)1, 4 Keckarevic M....Romac S. (2005)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Junctophilins: a novel family of junctional membrane complex proteins. (PubMed id 10949023)1, 3 Takeshima H....Kangawa K. (2000)
- 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. (PubMed id 18651325)1, 7 Sul/ek-Piatkowska A....Zaremba J. (2008)
- 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. (PubMed id 16858508)1, 7 Costa M.d.o. .C....Maciel P. (2006)
- Biglycan, a vascular proteoglycan, binds differently to HDL2 and HDL3: role of apoE. (PubMed id 11145944)1, 7 Olin K.L....Chait A. (2001)
|
External Searches for JPH3 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing JPH3 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing JPH3 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing JPH3 gene(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/JPH3 |
|
| | |
About This Section
| Patent Information for JPH3 gene:
Search GeneIP for patents involving JPH3
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for JPH3 gene(Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or
Enzo Life Sciences)
About This Section
|
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 |  |  |  | |
| |  | Search Tocris compounds for JPH3 |
| |  |  |  |  | | | | |
 | | | ELISAs and CLIAs for JPH3 |
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