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Aliases & Descriptions for JPH4
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| FLJ34253 2 | | JP4 2 | | JPHL1 2, 3 | | KIAA1831 1, 2, 3 | | OTTHUMP00000027957 2 |
| | | Descriptions |
|---|
| Junctophilin-like 1 protein 3 | | junctophilin 4 2 | | junctophilin like 1 1, 2 |
|
| | Search outside databases for aliases for JPH4 genePrevious GC identifers: GC14M022027 GC14M023099 |
Summaries for JPH4(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for JPH4: 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]
|
Genomic Location for JPH4
(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 JPH4 gene 
Entrez Gene cytogenetic band: 14q11 Ensembl cytogenetic band: 14q11.2 HGNC cytogenetic band: 14q11JPH4 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 14 GeneLoc Exon Structure GeneLoc location for GC14M023109:
(about GC identifiers)
Start:
|
23,107,087 bp from pter |
End:
|
23,117,849 bp from pter |
Size:
|
10,763 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000014.7 NT_026437.11
| Proteins for JPH4
(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: JPH4_HUMAN, Q96JJ6 (See
protein sequence)Recommended Name: Junctophilin-4 Size: 628 amino acids; 65861 Da
Subcellular location: Membrane; Single-pass type IV membrane protein (By similarity)
Secondary accessions: Q8ND44 Q96DQ0REFSEQ proteins (2 alternative transcripts):
NP_001139500.1 NP_115828.2
ENSEMBL proteins: ENSP00000348648 ENSP00000380307 ENSP00000267407
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
3 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for JPH4: Assays for JPH4: | Protein
Domains/ Families for JPH4(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 Q96JJ6
ProtoNet protein and cluster: Q96JJ6 UniProtKB/Swiss-Prot: JPH4_HUMAN, Q96JJ6Domain: 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 JPH4
(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 vectors (see all 2): NM_032452
Applied Biosystems Silencer® siRNAs for JPH4
Sigma-Aldrich siRNA for JPH4  Sigma-Aldrich shRNA for JPH4  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_032452                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_032452                                  untagged cDNA clone in CMV expression vector: NM_032452 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_032452
5 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Jph4):
| Pathways & Interactions for JPH4
(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 JPH4 
--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 JPH4(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 JPH4 3 Novoseek chemical compound relationships for JPH4 gene
About this table
|
Transcripts for JPH4(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 vectors (see all 2): NM_032452
Sigma-Aldrich siRNA for JPH4  Sigma-Aldrich shRNA for JPH4  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_032452 REFSEQ mRNAs for JPH4 gene (2 alternative transcripts): NM_001146028.1 NM_032452.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_032452               OriGene GFP tagged cDNA clone in CMV expression vector: NM_032452                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_032452                                  untagged cDNA clone in CMV expression vector: NM_032452  Additional cDNA sequence: AB058734.1 AK055345.1 AK091572.1 AK290511.1 AK304514.1 AL834411.1 AY344068.1 BC055429.1 BC109228.2 CR611477.1 CR615538.1 5 DOTS entries: DT.456303 DT.97839045 DT.95120470 DT.411162 DT.120750750 24/328 AceView cDNA sequences (see all 328
):BM543748 BQ709146 AI829725 BM991918 BE350949 BF195169 BX247963 BG993984 BX333345 NM_003917 CR610219 BQ937186 BI909267 AI359598 BU633321 BG752700 BM675924 BX102414 R89737 AK055345 BI524171 BQ185991 AI288799 BI334956
highest scoring ESTs for JPH4:BI546633 AB058734 BC055429 AI460352 AI887918 AW207686 AW878850 BE160526 BE219384 BE326402 Unigene Cluster for JPH4: Junctophilin 4 Hs.597841 [show with all ESTs]Unigene Representative Sequence: NM_032452
GeneLoc Exon Structure
5/29 Alternative Splicing Database (ASD) splice patterns (SP) for JPH4 (see all 29
)
| 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: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
| 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: | |   | |   | |   | |   | |   | |   | |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   |
| ExUns: | 28 | ^ | 29 | ^ | 30a | · | 30b | ^ | 31 | ^ | 32a | · | 32b | |
| SP1: | |   | |   | - |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | |   | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for JPH4
3 Ensembl transcripts including schematic representations: ENST00000356300
ENST00000397118
ENST00000267407
|
Expression for JPH4
(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
| JPH4 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for JPH4
1 / 2 / 3 3 probe-sets matching JPH4 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: --
SOURCE GeneReport for Unigene cluster: Hs.597841
|
Orthologs for JPH4
(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 JPH4 gene from 4 species
About this table Species with no ortholog for JPH4
ENSEMBL Gene Tree for JPH4 | Paralogs for JPH4(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for JPH4 gene
- JPH22 JPH12 JPH32
|
SNPs/Variants for JPH4(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for JPH4 (up to first 250kb)
|
Disorders & Mutations for JPH4
(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
| 8 Novoseek disease relationships for JPH4 gene
About this table
|
Medical News for JPH4(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for JPH4 (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
| 10/133 PubMed articles for JPH4 gene (see all 133
):- 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. (PubMed id 11347906)2, 3, 4 Nagase T....Ohara O. (2001)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)3, 4 Ota T....Sugano S. (2004)
- 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)
- New molecular components supporting ryanodine receptor-mediated Ca(2+) release: roles of junctophilin and TRIC channel in embryonic cardiomyocytes. (PubMed id 19095005)3 Yamazaki D....Takeshima H. (2009)
- The full-ORF clone resource of the German cDNA Consortium. (PubMed id 17974005)4 Bechtel S....Schupp I. (2007)
- Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)3 Kimura K.... Sugano S. (2006)
- Coexpression of junctophilin type 3 and type 4 in brain. (PubMed id 14559359)3 Nishi M....Takeshima H. (2003)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)3 Strausberg R.L....Marra M.A. (2002)
- Steady-state increase of cAMP-response element binding protein, Rac, and PAK signaling in presenilin-deficient neurons. (PubMed id 17996025)1 Barnes N.Y....Parent A.T. (2008)
- Plasma-membrane-anchored growth factor pro-amphiregulin binds A-type lamin and regulates global transcription. (PubMed id 18946024)1 Isokane M....Higashiyama S. (2008)
|
Search for JPH4
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing JPH4
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing JPH4
(According to HUGE)
About This Section
| |
Specialized Databases showing JPH4(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
|
| About This Section
| --
| Services for JPH4(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 JPH4:

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| | Recombinant Proteins (JPH4) | | Antibodies (JPH4) |
| | | Search Tocris compounds for JPH4 |
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Incremental update: 13 Oct 2009
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