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Aliases & Descriptions for JPH3
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| CAGL237 1, 2 | | FLJ44707 2 | | HDL2 1, 2, 5 | | JP-3 1, 2, 3 | | JP3 1, 2, 3, 5 | | TNRC22 2, 3 |
| | | Descriptions |
|---|
| Junctophilin type 3 2, 3 | | Trinucleotide repeat-containing gene 22 protein 3 | | junctophilin 3 2 | | trinucleotide repeat containing 22 1, 2 |
|
| | Search outside databases for aliases for JPH3 genePrevious GC identifers: GC16P078973 GC16P088667 GC16P087377 GC16P087417 |
Summaries for JPH3(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for JPH3: 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. [provided by RefSeq] UniProtKB/Swiss-Prot: JPH3_HUMAN, Q8WXH2Function: Contributes to the stabilization of the junctional membrane complexes, which are common to excitable cells and mediate cross-talk between cell surface and intracellular ion channels. Probably acts by anchoring the plasma membrane and endoplasmic reticulum. May play an active role in certain neurons involved in motor coordination (By similarity)Gene Wiki entry for JPH3 |
Genomic Location for JPH3
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the JPH3 gene 
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 GC16P086194:
(about GC identifiers)
Start:
|
86,194,000 bp from pter |
End:
|
86,289,263 bp from pter |
Size:
|
95,264 bases |
Orientation:
|
plus strand |
RefSeq DNA sequence:- NC_000016.8 NT_010498.15
| Proteins for JPH3
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
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. The transmembrane domain is anchored in endoplasmic reticulum membrane, while the N-terminal part associates with the plasma membrane (By similarity)
Secondary accessions: Q8N471 Q9HDC3 Q9HDC4Alternative splicing: 2 isoforms: Q8WXH2-1 Q8WXH2-2 (Additional isoforms seem to exist)Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_065706.2
ENSEMBL proteins: ENSP00000284262 ENSP00000301008 ENSP00000376916
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
5 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for JPH3: Assays for JPH3: | Protein
Domains/ Families for JPH3(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry Q8WXH2
ProtoNet 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
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_020655
Applied Biosystems Silencer® siRNAs for JPH3
Sigma-Aldrich siRNA for JPH3  Sigma-Aldrich shRNA for JPH3  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_020655                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_020655                                  untagged cDNA clone in CMV expression vector: NM_020655 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_020655
UniProtKB/Swiss-Prot: JPH3_HUMAN, Q8WXH2Function: Contributes to the stabilization of the junctional membrane complexes, which are common to excitable cells and mediate cross-talk between cell surface and intracellular ion channels. Probably acts by anchoring the plasma membrane and endoplasmic reticulum. May play an active role in certain neurons involved in motor coordination (By similarity)5 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Jph3):
2 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for JPH3
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
Gene Network CentralTM Interacting Genes and Proteins Network for JPH3 
5/8 Interacting proteins for JPH3 (ENSP000002842623 Q8WXH21, 2) via UniProtKB, MINT, and/or STRING (see all 8
)About this table
2 Gene Ontology (GO) biological process terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0060314 | regulation of ryanodine-sensitive calcium-release channel activity |
TAS | 19095005 | | GO:0060402 | calcium ion transport into cytosol |
TAS | 19095005 | About this table
|
Drugs & Compounds for JPH3(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
|
Browse Tocris compounds for JPH3 1 Novoseek chemical compound relationship for JPH3 gene
| Compound |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| it 15 |
90.16 |
2 |
11914418 (1), 18651325 (1) |
About this table
|
Transcripts for JPH3(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
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 Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_020655
Sigma-Aldrich siRNA for JPH3  Sigma-Aldrich shRNA for JPH3  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_020655 REFSEQ mRNAs for JPH3 gene: NM_020655.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_020655               OriGene GFP tagged cDNA clone in CMV expression vector: NM_020655                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_020655                                  untagged cDNA clone in CMV expression vector: NM_020655  Additional cDNA sequence: AB042636.1 AK055486.1 AK097679.1 AK126663.1 AK295518.1 AK297215.1 BC008690.1 BC036533.2 CR613927.1 6 DOTS entries: DT.113712 DT.97806098 DT.70104213 DT.99929998 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.592068 [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: ENST00000284262
ENST00000301008
ENST00000393224
|
Expression for JPH3
(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 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| JPH3 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for JPH3
1 / 2 / 3 8 probe-sets matching JPH3 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: TTCCAGTTAA
SOURCE GeneReport for Unigene cluster: Hs.592068
Expression variation in blood from EXPOLDB for JPH3 UniProtKB/Swiss-Prot: JPH3_HUMAN, Q8WXH2Tissue specificity: Specifically expressed in brain |
Orthologs for JPH3
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
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 | Paralogs for JPH3(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for JPH3 gene
- JPH22 JPH42 JPH12
|
SNPs/Variants for JPH3(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
| UniProtKB/Swiss-Prot: JPH3_HUMAN, Q8WXH2Polymorphism: The length of the poly-Ala region of isoform 2 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
HapMap Linkage Disequilibrium images for JPH3 (up to first 250kb)
|
Disorders & Mutations for JPH3
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
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. The typical clinical picture of HD combines familial adult onset chorea and subcortical dementia that usually begin during the fourth decade of life5 Novoseek disease relationships for JPH3 gene
About this table
GeneTests: JPH3 Huntington Disease-Like 2 Human Gene Mutation Database: JPH3 Genetic Association Database: JPH3 Human Genome Epidemiology Navigator: JPH3 (4 documents)
|
Medical News for JPH3(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for JPH3 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/29 PubMed articles for JPH3 gene (see all 29
):- Characterization of human junctophilin subtype genes. (PubMed id 10891348)1, 2, 3, 4 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, 3, 6 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, 3, 4 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, 3, 4 Stevanin G.... Brice A. (2002)
- JP-3 gene polymorphism in a healthy population of Serbia and Montenegro. (PubMed id 15876586)3, 6 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)3, 4 Gerhard D.S....Malek J. (2004)
- Junctophilins: a novel family of junctional membrane complex proteins. (PubMed id 10949023)2, 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, 3 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, 3 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, 3 Olin K.L....Chait A. (2001)
|
Search for JPH3
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing JPH3
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing JPH3
(According to HUGE)
About This Section
| -- |
Specialized Databases showing JPH3(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.genetests.org/query?gene=JPH3 |
|
| | | About This Section
| --
| Services for JPH3(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for JPH3:

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