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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

JRK Gene

protein-coding   GIFtS: 51
GCID: GC08M143735

Jerky Homolog (Mouse)

(Previous name: jerky (mouse) homolog)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Jerky Homolog (Mouse)1 2
JH82 3 5
Jerky (Mouse) Homolog1
Jerky Protein Homolog2

External Ids:    HGNC: 61991   Entrez Gene: 86292   Ensembl: ENSG000002346167   OMIM: 6032105   UniProtKB: O755643   

Export aliases for JRK gene to outside databases

Previous GC identifers: GC08M142043 GC08M143974 GC08M143548 GC08M143807 GC08M143808 GC08M138992


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for JRK Gene:
This gene encodes a conserved protein that is similar to DNA-binding proteins, such as major centromere
autoantigen B (CENPB). Inactivation of the related gene in mice resulted in epileptic seizures. Childhood Absence
Epilepsy (CAE) has been mapped to the same chromosomal location (8q24.3) as this gene. Alternative splicing
results in multiple transcript variants. (provided by RefSeq, Jul 2013)

GeneCards Summary for JRK Gene: 
JRK (jerky homolog (mouse)) is a protein-coding gene. Diseases associated with JRK include childhood absence epilepsy, and idiopathic generalized epilepsy. GO annotations related to this gene include DNA binding and molecular_function.

UniProtKB/Swiss-Prot: JERKY_HUMAN, O75564
Function: May bind DNA (By similarity)




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.2  NT_008046.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the JRK gene promoter:
         GATA-3   AML1a   RREB-1   c-Ets-1   GATA-1   GATA-2   AREB6   FOXJ2 (long isoform)   ZID   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidJRK promoter sequence
   Search SABiosciences Chromatin IP Primers for JRK

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat JRK


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8q24.3   Ensembl cytogenetic band:  8q24.3   HGNC cytogenetic band: 8q24.3

JRK Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
JRK gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M143735:  view genomic region     (about GC identifiers)

Start:
143,738,874 bp from pter      End:
143,763,386 bp from pter
Size:
24,513 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: JERKY_HUMAN, O75564 (See protein sequence)
Recommended Name: Jerky protein homolog  
Size: 520 amino acids; 57402 Da
Subcellular location: Nucleus (Potential)
Secondary accessions: O75565

Explore the universe of human proteins at neXtProt for JRK: NX_O75564

Explore proteomics data for JRK at MOPED 

JRK Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

JRK Protein Expression

REFSEQ proteins (3 alternative transcripts): 
NP_001070995.2  NP_001266281.1  NP_003715.3  

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Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005575cellular_component ND--
GO:0005634nucleus IEA--

JRK for ontologies           About GeneDecksing



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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
3 InterPro protein domains:
 IPR006600 HTH_CenpB_DNA-bd_dom
 IPR004875 DDE_SF_endonuclease_CENPB-like
 IPR009057 Homeodomain-like

Graphical View of Domain Structure for InterPro Entry O75564

ProtoNet protein and cluster: O75564

1 Blocks protein domain: IPB004875 CENP-B protein

UniProtKB/Swiss-Prot: JERKY_HUMAN, O75564
Similarity: Belongs to the tigger transposable element derived protein family
Similarity: Contains 1 DDE domain
Similarity: Contains 1 HTH CENPB-type DNA-binding domain


JRK for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

     UniProtKB/Swiss-Prot Summary: JERKY_HUMAN, O75564
Function: May bind DNA (By similarity)

     Genatlas biochemistry entry for JRK:
murine epilepsy jerky homolog on chromosome 8,widely expressed with a major large transcript and two smaller minor
transcripts,not implicated in childhood absence epilepsy

     Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003674molecular_function ND--
GO:0003677DNA binding IEA--
GO:0005515protein binding IPI--
     
JRK for ontologies           About GeneDecksing


Phenotypes:
     1 GenomeRNAi human phenotype for JRK:
 Wnt reporter downregulated 

     1 MGI phenotypic allele for Jrk (no phenotypes)

JRK for phenotypes           About GeneDecksing

Animal Models:
   inGenious Targeting Laboratory - Custom generated mouse model solutions for JRK 
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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for JRK

4 Interacting proteins for JRK (O755642) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
CTNNB1P352222MINT-8183203 MINT-8183419 MINT-8183248
PYGO2Q9BRQ02MINT-8183234
TCF7L2Q9NQB02MINT-8176629
--P277822MINT-8183219 MINT-8183419 MINT-8183402
About this table

Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0008150biological_process ND--

JRK for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for JRK (JERKY)

Search CenterWatch for drugs/clinical trials and news about JRK / JERKY

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for JRK gene (3 alternative transcripts): 
NM_001077527.2  NM_001279352.1  NM_003724.3  

Unigene Clusters for JRK:

Jerky homolog (mouse)
Hs.535903  [show with all ESTs], Hs.683465  [show with all ESTs]
Unigene Representative Sequences: NM_003724, BC043351
10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000507178(uc003ywo.3 uc003ywp.3) ENST00000422119(uc022bcb.1)
ENST00000512113 ENST00000506774 ENST00000503272 ENST00000591357 ENST00000591180
ENST00000587883 ENST00000585503 ENST00000587499
miRNA
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hsa-miR-3673 hsa-miR-377
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Inhib. RNA
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  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat JRK

Additional mRNA sequence: 

AF072468.1 BC043351.1 

9 DOTS entries:

DT.120639785  DT.431224  DT.75102893  DT.102826414  DT.436244  DT.101978738  DT.100023994  DT.86850649 
DT.40247181 

24/123 AceView cDNA sequences (see all 123):

AW513355 Z45157 BM784502 BC071862 BC036794 BU738814 AK024975 AI696719 
BC030566 AF072468 R54136 BM713746 AI193642 BP376551 AK025687 BU159904 
AA263118 BQ070109 BM469061 BX474560 BG385377 AK024145 BG481777 BI855718 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

JRK expression in normal human tissues (normalized intensities)      JRK embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CTGCTTGTAC
JRK Expression
About this image


JRK expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database 
 5/1 selected tissues (see all 1) fully expand
 
 Eye (Sensory Organs)
         Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium

See JRK Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for JRK

SOURCE GeneReport for Unigene clusters: Hs.535903 Hs.683465

UniProtKB/Swiss-Prot: JERKY_HUMAN, O75564
Tissue specificity: Expressed ubiquitously

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QIAGEN QuantiFast Probe-based Assays in human, mouse, rat JRK
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for JRK

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of human and mouse.

Orthologs for JRK gene from 1/6 species (see all 6)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Jrk1 , 5 jerky1, 5 79.56(n)1
78.42(a)1
  15 (34.26 cM)5
164691  NM_008415.61  NP_032441.41 
 747024125 


ENSEMBL Gene Tree for JRK (if available)
TreeFam Gene Tree for JRK (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for JRK gene
4 SIMAP similar genes for JRK using alignment to 4 protein entries:     JERKY_HUMAN (see all proteins):
JH8    DKFZp686C24207    JRKL    TIGD2

JRK for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/436 SNPs in JRK are shown (see all 436)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 8 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1048940811,2
Cuntested1144020188(-) TGCCAC/TGTCGC 4 T M mis10--------
rs106565501,2
C--143739805(+) TTTTTTT/-AGCAA 2 -- ut311Minor allele frequency- -:0.00CSA 2
rs2011702381,2
C--143739805(+) ATTTCC/TTTTTT 2 -- ut310--------
rs38398651,2
C--143743882(-) ACATC-/CATGTA 2 -- ut31 int11Minor allele frequency- C:0.00NA 2
rs743893891,2
C--143746094(+) ACACAA/CAACCT 2 V L mis10--------
rs357630441,2
C--143748626(+) ACTGC-/CACACA 2 -- int10--------
rs713132371,2
C--143748861(-) TGTGT-/GTG   
   
/GTGT
GTGTG
4 -- int1 cds11NA 2
rs1502333361,2
--144012520(+) CAACTA/CCTCTA 2 -- ds50010--------
rs1870062451,2
--144012547(+) ATCCGC/TGCAGC 2 -- ds50010--------
rs45873071,2
C,F,A,H--144012608(+) ACAGAA/GACTGG 2 -- ds500123Minor allele frequency- G:0.47NS EA NA WA CSA 2345

HapMap Linkage Disequilibrium report for JRK (143738874 - 143763386 bp)

Structural Variations
     Database of Genomic Variants (DGV) 8 variations for JRK:    About this table     
Variant IDTypeSubtypePubMed ID
esv2661137CNV Deletion23128226
dgv7910n71CNV Loss21882294
dgv7915n71CNV Loss21882294
dgv7916n71CNV Loss21882294
nsv891637CNV Loss21882294
nsv831485CNV Loss17160897
dgv7914n71CNV Loss21882294
nsv428207CNV Gain+Loss18775914


Human Gene Mutation Database (HGMD): JRK
SABiosciences Cancer Mutation PCR Assays
Search QIAGEN SeqTarget long-range PCR primers for resequencing JRK
DNA2.0 Custom Variant and Variant Library Synthesis for JRK

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 603210    OMIM disorders: --

2 diseases for JRK:    About MalaCards
childhood absence epilepsy    idiopathic generalized epilepsy

1 disease from the University of Copenhagen DISEASES database for JRK:
Idiopathic generalized epilepsy

JRK for disorders           About GeneDecksing

Genetic Association Database (GAD): JRK
Human Genome Epidemiology (HuGE) Navigator: JRK (1 document)

Export disorders for JRK gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
About This Section

PubMed articles for JRK gene integrated from 9 sources:
(articles sorted by number of sources associating them with JRK)
    Utopia: connect your pdf to the dynamic
world of online information

  1. JH8, a gene highly homologous to the mouse jerky gene, maps to the region for childhood absence epilepsy on 8q24. (PubMed id 9675132)1, 2, 3, 9 Morita R.... Yamakawa K. (1998)
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
  3. Bcl2-associated Athanogene 3 Interactome Analysis Reve als a New Role in Modulating Proteasome Activity. (PubMed id 23824909)1 Chen Y....Ge F. (2013)
  4. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
  6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
  7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
  8. Polymorphism analysis of JRK/JH8, the human homologue of mouse jerky, and description of a rare mutation in a case of CAE evolving to JME. (PubMed id 11463517)1 Moore T....Bailleul B. (2001)
  9. Exclusion of the JRK/JH8 gene as a candidate for human childhood absence epilepsy mapped on 8q24. (PubMed id 10510981)1 Morita R....Yamakawa K. (1999)
  10. Complex regulation and nuclear localization of JRK protein. (PubMed id 15506925)9 Waldron R. and Moore T. (2004)

(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, Kegg, and/or H-InvDB)
About This Section
Entrez Gene: 8629 HGNC: 6199 AceView: JRK Ensembl:ENSG00000234616 euGenes: HUgn8629
ECgene: JRK H-InvDB: JRK

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
NameDescription
PharmGKB entry for JRK Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for JRK gene:
Search GeneIP for patents involving JRK

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
About This Section

 
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 QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat JRK
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 Novus Tissue Slides
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 Proteins for JRK
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Customized:
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Customized transgenic rodents for:
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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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Category
(GIFtS: 73)
transforming growth factor, beta 1
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The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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