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Aliases for JRK Gene

Aliases for JRK Gene

  • Jrk Helix-Turn-Helix Protein 2 3 5
  • JH8 3 4
  • Jerky (Mouse) Homolog 2
  • Jerky Homolog (Mouse) 2
  • Jerky Protein Homolog 3
  • Jrk Homolog (Mouse) 2
  • Jerky Homolog 3
  • Jrk Homolog 3
  • Jerky 3

External Ids for JRK Gene

Previous GeneCards Identifiers for JRK Gene

  • GC08M142043
  • GC08M143974
  • GC08M143548
  • GC08M143807
  • GC08M143808
  • GC08M143735
  • GC08M138992

Summaries for JRK Gene

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 (Jrk Helix-Turn-Helix Protein) is a Protein Coding gene. Diseases associated with JRK include Childhood Absence Epilepsy and Epilepsy, Generalized, With Febrile Seizures Plus, Type 5. GO annotations related to this gene include nucleic acid binding and mRNA binding. An important paralog of this gene is JRKL.

UniProtKB/Swiss-Prot for JRK Gene

  • May bind DNA.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for JRK Gene

Genomics for JRK Gene

Regulatory Elements for JRK Gene

Enhancers for JRK Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around JRK on UCSC Golden Path with GeneCards custom track

Promoters for JRK Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for JRK Gene

Chromosome:
8
Start:
142,651,501 bp from pter
End:
142,681,968 bp from pter
Size:
30,468 bases
Orientation:
Minus strand

Genomic View for JRK Gene

Genes around JRK on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
JRK Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for JRK Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for JRK Gene

Proteins for JRK Gene

  • Protein details for JRK Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75564-JERKY_HUMAN
    Recommended name:
    Jerky protein homolog
    Protein Accession:
    O75564
    Secondary Accessions:
    • O75565

    Protein attributes for JRK Gene

    Size:
    520 amino acids
    Molecular mass:
    57402 Da
    Quaternary structure:
    No Data Available

neXtProt entry for JRK Gene

Post-translational modifications for JRK Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for JRK Gene

No data available for DME Specific Peptides for JRK Gene

Domains & Families for JRK Gene

Gene Families for JRK Gene

Protein Domains for JRK Gene

Suggested Antigen Peptide Sequences for JRK Gene

Graphical View of Domain Structure for InterPro Entry

O75564

UniProtKB/Swiss-Prot:

JERKY_HUMAN :
  • Contains 1 DDE domain.
  • Belongs to the tigger transposable element derived protein family.
Domain:
  • Contains 1 DDE domain.
  • Contains 1 HTH CENPB-type DNA-binding domain.
Family:
  • Belongs to the tigger transposable element derived protein family.
genes like me logo Genes that share domains with JRK: view

Function for JRK Gene

Molecular function for JRK Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot Function:
May bind DNA.

Gene Ontology (GO) - Molecular Function for JRK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 21399610
genes like me logo Genes that share ontologies with JRK: view
genes like me logo Genes that share phenotypes with JRK: view

Human Phenotype Ontology for JRK Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for JRK Gene

Localization for JRK Gene

Subcellular locations from UniProtKB/Swiss-Prot for JRK Gene

Gene Ontology (GO) - Cellular Components for JRK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0030529 intracellular ribonucleoprotein complex IEA --
genes like me logo Genes that share ontologies with JRK: view

No data available for Subcellular locations from COMPARTMENTS for JRK Gene

Pathways & Interactions for JRK Gene

SuperPathways for JRK Gene

No Data Available

Gene Ontology (GO) - Biological Process for JRK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with JRK: view

No data available for Pathways by source and SIGNOR curated interactions for JRK Gene

Drugs & Compounds for JRK Gene

No Compound Related Data Available

Transcripts for JRK Gene

Unigene Clusters for JRK Gene

Jerky homolog (mouse):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for JRK Gene

No ASD Table

Relevant External Links for JRK Gene

GeneLoc Exon Structure for
JRK
ECgene alternative splicing isoforms for
JRK

Expression for JRK Gene

mRNA expression in normal human tissues for JRK Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for JRK Gene

This gene is overexpressed in Stomach (x4.2).

Protein differential expression in normal tissues from HIPED for JRK Gene

This gene is overexpressed in Heart (67.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for JRK Gene



Protein tissue co-expression partners for JRK Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of JRK Gene:

JRK

SOURCE GeneReport for Unigene cluster for JRK Gene:

Hs.535903

mRNA Expression by UniProt/SwissProt for JRK Gene:

O75564-JERKY_HUMAN
Tissue specificity: Expressed ubiquitously.
genes like me logo Genes that share expression patterns with JRK: view

Primer Products

Orthologs for JRK Gene

This gene was present in the common ancestor of mammals.

Orthologs for JRK Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia JRK 34
  • 77.86 (n)
  • 74.95 (a)
dog
(Canis familiaris)
Mammalia JRK 34
  • 79.67 (n)
  • 78.19 (a)
mouse
(Mus musculus)
Mammalia Jrk 34
  • 78.72 (n)
  • 77.52 (a)
Jrk 16
chimpanzee
(Pan troglodytes)
Mammalia JRK 34
  • 98.73 (n)
  • 98.29 (a)
rat
(Rattus norvegicus)
Mammalia Jrk 34
  • 79.14 (n)
  • 78.42 (a)
Species where no ortholog for JRK was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for JRK Gene

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

Paralogs for JRK Gene

Paralogs for JRK Gene

(4) SIMAP similar genes for JRK Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with JRK: view

Variants for JRK Gene

Sequence variations from dbSNP and Humsavar for JRK Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs1056012 -- 142,658,755(-) TCCAT(C/G/T)TCCAT intron-variant, utr-variant-3-prime
rs1137521 -- 142,657,748(-) TGGGA(A/G)ATGTT intron-variant, utr-variant-3-prime
rs1137522 -- 142,657,606(-) CTCCT(C/G/T)CTCTT intron-variant, utr-variant-3-prime
rs1801343 -- 142,658,562(-) GCGAG(A/G)TCACT intron-variant, utr-variant-3-prime
rs2920290 -- 142,668,060(+) TGTGG(C/T)GTGCG intron-variant, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for JRK Gene

Variant ID Type Subtype PubMed ID
esv2661137 CNV deletion 23128226
esv3573026 CNV loss 25503493
esv3573027 CNV loss 25503493
esv3619090 CNV loss 21293372
nsv1115146 CNV deletion 24896259
nsv1119190 CNV deletion 24896259
nsv428207 CNV gain+loss 18775914
nsv612709 CNV loss 21841781
nsv831485 CNV loss 17160897
nsv950003 CNV deletion 24416366

Relevant External Links for JRK Gene

Human Gene Mutation Database (HGMD)
JRK
SNPedia medical, phenotypic, and genealogical associations of SNPs for
JRK

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for JRK Gene

Disorders for JRK Gene

MalaCards: The human disease database

(2) MalaCards diseases for JRK Gene - From: Orphanet and GeneCards

Disorder Aliases PubMed IDs
childhood absence epilepsy
  • absence seizure
epilepsy, generalized, with febrile seizures plus, type 5
  • epilepsy, idiopathic generalized, 10
- elite association - COSMIC cancer census association via MalaCards
Search JRK in MalaCards View complete list of genes associated with diseases

Relevant External Links for JRK

Genetic Association Database (GAD)
JRK
Human Genome Epidemiology (HuGE) Navigator
JRK
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
JRK
genes like me logo Genes that share disorders with JRK: view

No data available for UniProtKB/Swiss-Prot and Genatlas for JRK Gene

Publications for JRK Gene

  1. JH8, a gene highly homologous to the mouse jerky gene, maps to the region for childhood absence epilepsy on 8q24. (PMID: 9675132) Morita R. … Yamakawa K. (Biochem. Biophys. Res. Commun. 1998) 2 3 4 22 65
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 65
  3. Bcl2-associated athanogene 3 interactome analysis reveals a new role in modulating proteasome activity. (PMID: 23824909) Chen Y. … Ge F. (Mol. Cell Proteomics 2013) 3 65
  4. Toward a comprehensive characterization of a human cancer cell phosphoproteome. (PMID: 23186163) Zhou H. … Mohammed S. (J. Proteome Res. 2013) 4 65
  5. Jerky/Earthbound facilitates cell-specific Wnt/Wingless signalling by modulating I^-catenin-TCF activity. (PMID: 21399610) Benchabane H. … Ahmed Y. (EMBO J. 2011) 3 65

Products for JRK Gene

Sources for JRK Gene

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