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

JRKL Gene

protein-coding   GIFtS: 44
GCID: GC11P096123

Jerky Homolog-Like (Mouse)

(Previous name: erky (mouse) homolog-like)
  Search for JRKL
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-Like (Mouse)1 2
HHMJG2 3 5
Human Homolog Of Mouse Jerky Gene Protein2 3
Erky (Mouse) Homolog-Like1
Jerky Protein Homolog-Like2

External Ids:    HGNC: 62001   Entrez Gene: 86902   Ensembl: ENSG000001833407   OMIM: 6032115   UniProtKB: Q9Y4A03   

Export aliases for JRKL gene to outside databases

Previous GC identifers: GC11P098454 GC11P097631 GC11P096308 GC11P095811 GC11P095763 GC11P092189


(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 JRKL Gene:
The function of this gene has not yet been defined, however, the encoded protein shares similarity with the human
(41% identical) and mouse (34% identical) jerky gene products. This protein may act as a nuclear regulatory
protein. Alternatively spliced transcript variants have been found for this gene. (provided by RefSeq, May 2012)

GeneCards Summary for JRKL Gene: 
JRKL (jerky homolog-like (mouse)) is a protein-coding gene. GO annotations related to this gene include DNA binding. An important paralog of this gene is TIGD2.




(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_000011.9  NC_018922.2  NT_167190.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the JRKL gene promoter:
         POU2F2 (Oct-2.1)   oct-B2   oct-B3   AML1a   POU2F2   RORalpha1   POU2F2C   POU2F1   POU2F1a   POU2F2B   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidJRKL promoter sequence
   Search SABiosciences Chromatin IP Primers for JRKL

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


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

Entrez Gene cytogenetic band: 11q21   Ensembl cytogenetic band:  11q21   HGNC cytogenetic band: 11q21

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

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P096123:  view genomic region     (about GC identifiers)

Start:
96,123,153 bp from pter      End:
96,240,738 bp from pter
Size:
117,586 bases      Orientation:
plus 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: JERKL_HUMAN, Q9Y4A0 (See protein sequence)
Recommended Name: Jerky protein homolog-like  
Size: 524 amino acids; 59912 Da
Subcellular location: Nucleus (By similarity)
Sequence caution: Sequence=AAB65833.1; Type=Erroneous initiation;
Secondary accessions: A8K3G4 B2RAJ3 Q32MC2

Explore the universe of human proteins at neXtProt for JRKL: NX_Q9Y4A0

Explore proteomics data for JRKL at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y4A0

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

    JRKL Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001248762.1  NP_003763.2  

    ENSEMBL proteins: 
     ENSP00000333350   ENSP00000389989  

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--

    JRKL 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
    4 InterPro protein domains:
     IPR006600 HTH_CenpB_DNA-bd_dom
     IPR004875 DDE_SF_endonuclease_CENPB-like
     IPR009057 Homeodomain-like
     IPR007889 HTH_Psq

    Graphical View of Domain Structure for InterPro Entry Q9Y4A0

    ProtoNet protein and cluster: Q9Y4A0

    1 Blocks protein domain: IPB004875 CENP-B protein

    UniProtKB/Swiss-Prot: JERKL_HUMAN, Q9Y4A0
    Similarity: Belongs to the tigger transposable element derived protein family
    Similarity: Contains 1 DDE domain
    Similarity: Contains 1 HTH CENPB-type DNA-binding domain
    Similarity: Contains 1 HTH psq-type DNA-binding domain


    JRKL 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:
         Genatlas biochemistry entry for JRKL:
    murine jerky homolog-like,involved in epileptic syndromes in mice,expressed in many tissues,with two alternatively
    forms in testis

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding IEA--
         
    JRKL for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for JRKL 
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    SwitchGear 3'UTR luciferase reporter plasmidJRKL 3' UTR sequence
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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 JRKL

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007417central nervous system development TAS9240447

    JRKL 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 JRKL (JERKL)

    Search CenterWatch for drugs/clinical trials and news about JRKL / JERKL

    (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,
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    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 JRKL gene (2 alternative transcripts): 
    NM_001261833.1  NM_003772.3  

    Unigene Clusters for JRKL:

    Jerky homolog-like (mouse)
    Hs.105940  [show with all ESTs], Hs.745352  [show with all ESTs]
    Unigene Representative Sequences: NM_001261833, NM_003772
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000546177(uc021qpa.1) ENST00000332349(uc009ywu.3) ENST00000458427(uc001pfy.2)

    miRNA
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    8/33 QIAGEN miScript miRNA Assays for microRNAs that regulate JRKL (see all 33):
    hsa-miR-607 hsa-miR-3938 hsa-miR-302d hsa-miR-520e hsa-miR-106a hsa-miR-513a-5p hsa-miR-183* hsa-miR-372
    SwitchGear 3'UTR luciferase reporter plasmidJRKL 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: AK314216.1 

    2 DOTS entries:

    DT.404002  DT.99932675 

    21 AceView cDNA sequences:

    BU633595 NM_003772 AI985103 CA503357 AA991350 BX472885 CA448235 BM468034 
    AF004715 BQ719793 BG926401 AI733607 AW662715 BX089945 BG403784 AI792197 
    BF242601 BG926222 BP334207 AW151655 BU588099 

    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

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


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

    SOURCE GeneReport for Unigene clusters: Hs.105940 Hs.745352

    UniProtKB/Swiss-Prot: JERKL_HUMAN, Q9Y4A0
    Tissue specificity: Abundantly expressed in the majority of tissues examined, including brain and skeletal muscle

        SABiosciences Custom PCR Arrays for JRKL
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for JRKL

    (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 animals.

    Orthologs for JRKL gene from 3/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Jrkl1 , 5 jerky homolog-like (mouse)1, 5 89.8(n)1
    94.07(a)1
      95
    775321  NM_001033181.11  NP_001028353.11 
     132427905 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 3)
    Uncharacterized protein
    (see all 3)
    44(a)
    40(a)
    (see all 3)
    possible ortholog
    possible ortholog
    (see all 3)
    3(135604617-135605273)
    GL343575.1(371492-373055)
    mosquito
    (Anopheles gambiae)
    Insecta AgaP_AGAP0038941 AGAP003894-PA 47.34(n)
    38.05(a)
      1269486  XM_308124.4  XP_308124.4 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for JRKL gene
    TIGD22  TIGD12  TIGD72  TIGD52  CENPB2  TIGD62  TIGD32  TIGD42  
    4 SIMAP similar genes for JRKL using alignment to 1 protein entry:     JERKL_HUMAN:
    TIGD2    JRK    DKFZp686C24207    TIGD7

    JRKL 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

    10/46 SNPs in JRKL are shown (see all 46)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1481416521,2
    C--96125155(+) ATAGCG/AAAATC 4 /K /E mis11Minor allele frequency- A:0.00NA 4538
    rs1418763021,2
    C--96125195(+) ATCCAG/TTGAAA 4 S I mis11Minor allele frequency- T:0.00NA 4542
    rs770906121,2
    C--96125196(+) TCCAGT/AGAAAA 4 /R /S mis12Minor allele frequency- A:0.00WA NA 4660
    rs1396075451,2
    C--96125236(+) AGAAAC/GATATT 4 H D mis10--------
    rs1391754261,2
    C,F--96125238(+) AAACAT/CATTAA 4 /H syn12Minor allele frequency- C:0.00NA EU 5845
    rs2003475951,2
    C--96125437(-) TTGCAA/GAGAGT 2 -- ut310--------
    rs1497489231,2
    --96125463(+) TTTGTA/GTTCTG 2 -- ut310--------
    rs47537501,2
    C,F,A,H--96125922(+) TGCCTT/CCATTC 2 -- ut3110Minor allele frequency- C:0.02NS EA NA 1052
    rs115494591,2
    C,F--96126165(+) ATTTGG/TTAATA 2 -- ut311Minor allele frequency- T:0.08WA 118
    rs2002993831,2
    --96126286(+) TTAAT-/AAGTTTT 2 -- ut310--------

    HapMap Linkage Disequilibrium report for JRKL (96123153 - 96240738 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for JRKL: --
    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing JRKL
    DNA2.0 Custom Variant and Variant Library Synthesis for JRKL

    (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

    JRKL for disorders           About MalaCards
    OMIM gene information: 603211    OMIM disorders: --


    JRKL for disorders           About GeneDecksing

    Genetic Association Database (GAD): JRKL

    Export disorders for JRKL 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 JRKL gene, integrated from 9 sources (see all 18):
    (articles sorted by number of sources associating them with JRKL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning, mapping, and tissue distribution of a human homologue of the mouse jerky gene product. (PubMed id 9240447)1, 2, 3 Zeng Z.... Li Y. (1997)
    2. PKNOX2 is associated with formal thought disorder in s chizophrenia: a meta-analysis of two genome-wide association studies. (PubMed id 22648509)1 Wang K.S....Zeng M. (2012)
    3. Host-microbe interactions have shaped the genetic arch itecture of inflammatory bowel disease. (PubMed id 23128233)1 Jostins L....Cho J.H. (2012)
    4. Whole genome association scan for genetic polymorphis ms influencing information processing speed. (PubMed id 21130836)4 Luciano M....Deary I.J. (2011)
    5. A genome-wide meta-analysis identifies novel loci ass ociated with schizophrenia and bipolar disorder. (PubMed id 20889312)4 Wang K.S....Aragam N. (2010)
    6. A genome-wide association study identifies a novel ma jor locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose. (PubMed id 19875614)4 Paterson A.D....Bull S.B. (2010)
    7. Genome-wide association study identifies variants ass ociated with histologic features of nonalcoholic Fatty liver disease. (PubMed id 20708005)4 Chalasani N....Rotter J.I. (2010)
    8. Genome-wide association study identifies 19p13.3 (UNC 13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral scleros is. (PubMed id 19734901)4 van Es M.A....van den Berg L.H. (2009)
    9. A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. (PubMed id 17903299)4 Kathiresan S....Cupples L.A. (2007)
    10. A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study. (PubMed id 17903292)4 Hwang S.J....Fox C.S. (2007)

    (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: 8690 HGNC: 6200 AceView: JRKL Ensembl:ENSG00000183340 euGenes: HUgn8690
    ECgene: JRKL H-InvDB: JRKL

    (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 JRKL 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 JRKL gene:
    Search GeneIP for patents involving JRKL

    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)
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    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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