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JPH4 Gene

protein-coding   GIFtS: 44

GC14M023109
junctophilin 4
(Previous name: junctophilin like 1 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: JPHL1)
Services    
(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
External Ids
HGNC: 201561
Entrez Gene: 845022
UniProtKB: Q96JJ63
Ensembl: ENSG000000920517
Search outside databases for aliases for JPH4 gene

Previous GC identifers: GC14M022027 GC14M023099

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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]

(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: 14q11

JPH4 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  
(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)
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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 Q96DQ0

REFSEQ proteins (2 alternative transcripts): 
NP_001139500.1  NP_115828.2  


ENSEMBL proteins: 
ENSP00000348648 ENSP00000380307 ENSP00000267407 


Human Recombinant Proteins 
Browse Drug Discovery Central at Invitrogen for human recombinant proteins
Browse Purified and Recombinant Proteins at Millipore
Browse Human Recombinant Proteins at Sigma-Aldrich  
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
Recombinant Proteins from Abcam (JPH4)
Browse Abnova for 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):

GO IDQualified GO termEvidencePubMed IDs
GO:0014701 junctional sarcoplasmic reticulum membrane TAS19095005
GO:0016020 membrane IEA--
GO:0016021 integral to membrane IEA--
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Antibodies for JPH4: 
Invitrogen Antibodies for JPH4
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Sigma-Aldrich Antibodies for JPH4
Browse R&D Systems for Antibodies
Antibodies from Abcam (JPH4), each with their AbpromiseSM
Browse Abnova for Monoclonal and Polyclonal Antibodies
Search Novus for antibodies for JPH4

Assays for JPH4: 
Browse Invitrogen for biochemical assays
Browse Kits and Assays available from Millipore
Browse R&D Systems for biochemical assays
Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

2 InterPro domains/families:
 IPR017191 Junctophilin
 IPR003409 MORN


   GeneDecks  JPH4 for the domains selected above  
About GeneDecksing

Graphical View of Domain Structure for InterPro Entry Q96JJ6

ProtoNet protein and cluster: Q96JJ6

UniProtKB/Swiss-Prot: JPH4_HUMAN, Q96JJ6
Domain: 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 family
Similarity: Contains 8 MORN repeats

(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

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (JPH4)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
               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  

Clones:Invitrogen Clones for JPH4
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              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):

behavior/neurologicalgrowth/sizelethality-postnatalnervous systemreproductive system

(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 IDQualified GO termEvidencePubMed IDs
GO:0060314 regulation of ryanodine-sensitive calcium-release channel activity TAS19095005
GO:0060402 calcium ion transport into cytosol TAS19095005
About this table
(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 drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for JPH4
3 Novoseek chemical compound relationships for JPH4 gene
Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
mannose 26.83 1 16864654 (1)
lysine 18.54 2 17483134 (1), 8468349 (1)
tyrosine 0.00 1 11247301 (1)
About this table


(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

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (JPH4)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
               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  
(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


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
61374_at2, 3 U95-C 1 1.00 1.00 1.00 1.00 AI571194 0.80 0.70 0.75 1

226918_at2, 3 U133-B 1 1.00 1.00 -- -- BF513474 0.60 0.62 0.61 1

226918_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
GeneDecks  JPH4 for binary patterns associated with the probe-sets selected above  
About GeneDecksing
About this table    
Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene cluster: Hs.597841
(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
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
JPH41   -- junctophilin 4 94.44(n)
96.16(a)
490615  XM_547737.2  XP_547737.2 
cow
(Bos taurus)
JPH41   -- junctophilin 4 93.1(n)
95.7(a)
781073  XM_001249445.1  XP_001249446.1 
rat
(Rattus norvegicus)
Jph41   -- junctophilin 4 89.28(n)
95.84(a)
445271  NM_001003711.1  NP_001003711.1 
mouse
(Mus musculus)
Jph41, 5 145
junctophilin 41, 5 89.7(n)1
95.86(a)1
3199841  NM_177049.41  NP_796023.21 
 AB0962635  AB0997125  (see all 21)
About this table        Species with no ortholog for JPH4

ENSEMBL Gene Tree for JPH4
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Paralogs for JPH4 gene
JPH22  JPH12  JPH32  

(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section


10/39 NCBI SNPs in JPH4 are shown (see all 39 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 33)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 14 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs101500891,2
A,F,H23118080(+) GAAGGA/CGGGGA 1 -- ng31 trp34Minor allele frequency- C:0.16EU EA WA 416
rs7445881,2
H23118805(+) CACTGT/GCTTCC 1 -- ng31 trp37Minor allele frequency- G:0.16NA EA EU WA 670
rs128895161,2
C23117509(+) GCTGGA/CTGCAA 1 -- ut51 ese30--------
rs1901031,2
H23109983(+) GGCTGG/AGCAGG 1 A/A syn17Minor allele frequency- A:0.00EA NA EU WA 484
rs118443661,2
A,C,F,H23111464(+) GGGTCT/CAGCAC 1 -- int111Minor allele frequency- C:0.26NA EU EA WA 982
rs101495101,2
A,C,F,H23109399(+) gtttaC/Taaccc 1 -- int14Minor allele frequency- T:0.35EU EA WA 420
rs101433911,2
F,H23115894(+) TGAGGA/TCAGGC 1 -- int14Minor allele frequency- T:0.03EU EA WA 416
--
rs101366661,2
A23113440(+) ggtctC/Tgaact 1 -- int10--------
--
rs178548961,2
--23110041(+) CATCAG/TGACCC 1 H/P mis1 ese30--------
--
rs178557021,2
--23114947(+) GCCGCC/TGGTTG 1 Q/R mis1 ese30--------
About this table

HapMap Linkage Disequilibrium images for JPH4 (up to first 250kb)

(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

Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
alzheimers disease 49.55 7 7722498 (1), 17059559 (1), 16938437 (1), 16098915 (1) (see all 7)
senile plaques 36.17 1 16938437 (1)
adenocarcinoma 0.07 2 15987679 (1), 16707592 (1)
necrosis 0.00 2 10672498 (1), 8702885 (1)
cancer 0.00 1 12379327 (1)
inflammation 0.00 1 17275839 (1)
tumors 0.00 3 10672498 (1), 12379327 (1), 8702885 (1)
colorectal cancer 0.00 1 18166351 (1)
About this table

(Possibly Related Articles in Doctor's Guide)
About This Section

  --

(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 ):
(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)
(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section

Entrez Gene: 84502 HGNC: 20156 AceView: AP1G2 Ensembl:ENSG00000092051 euGenes: HUgn84502
ECgene: JPH4 H-InvDB: JPH4
(According to HUGE)
About This Section

HUGE: KIAA1831
(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

  --
(Available from WIS Yeda, Salk, Tufts)
About This Section

  --
(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:
 TaqMan ® Gene Expression Assays
 TaqMan ® Genotyping Assays
  Free SNP selection tool



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 Predesigned and custom siRNAs for JPH4 Antibodies for JPH4
 Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
 Lentivirus-delivered shRNAs for JPH4 Browse small molecules at Sigma-Aldrich
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 Search Novus for antibodies for JPH4

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