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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.

Additional gene information for JRK Gene

No data available for CIViC summary , 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
GH08H142667 1.6 Ensembl ENCODE dbSUPER 49 +12.0 12029 5.8 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZBTB7B ZNF766 ZNF143 DEK JRK LY6K PSCA ZNF623 SLURP1 ZC3H3 C8orf31 ENSG00000255050 PIR47130
GH08H143460 1.4 Ensembl ENCODE dbSUPER 43.5 -780.3 -780285 3.6 HDGF PKNOX1 ZNF493 SIN3A ZNF207 ATF7 RUNX3 ZNF202 JUNB REST ZNF623 CPSF1 VPS28 SLC52A2 JRK GPAA1 ADCK5 TIGD5 ZNF707 ZNF696
GH08H143595 1.1 ENCODE 47.4 -916.0 -915964 5.1 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B ZNF143 ZNF207 NAPRT ZNF623 CPSF1 JRK VPS28 LRRC14 LOC105375803 ZNF696 AK3P2 GPAA1
GH08H142661 0.8 Ensembl ENCODE 49.3 +19.0 18994 3.8 ZNF121 MAFF ZNF316 POLR2A NR3C1 EMSY MAFK JRK PIR59678 LOC101928087
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around JRK on UCSC Golden Path with GeneCards custom track

Genomic Locations for JRK Gene

Genomic Locations for JRK Gene
30,468 bases
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:
    Recommended name:
    Jerky protein homolog
    Protein Accession:
    Secondary Accessions:
    • O75565

    Protein attributes for JRK Gene

    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

No data available for DME Specific Peptides for JRK Gene

Domains & Families for JRK Gene

Protein Domains for JRK Gene

Suggested Antigen Peptide Sequences for JRK Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the tigger transposable element derived protein 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.

Phenotypes From GWAS Catalog for JRK Gene

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:0003729 mRNA 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

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (2)
  • Nucleoli (2)
  • Nucleus (2)
See all subcellular structures

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

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:

Clone Products

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

No ASD Table

Relevant External Links for JRK Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for JRK Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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:


SOURCE GeneReport for Unigene cluster for JRK Gene:


mRNA Expression by UniProt/SwissProt for JRK Gene:

Tissue specificity: Expressed ubiquitously.

Phenotype-based relationships between genes and organs from Gene ORGANizer for JRK Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • nervous
  • skeletal muscle
Head and neck:
  • brain
  • head
genes like me logo Genes that share expression patterns with JRK: view

No data available for Evidence on tissue expression from TISSUES for JRK Gene

Orthologs for JRK Gene

This gene was present in the common ancestor of mammals.

Orthologs for JRK Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia JRK 33
  • 98.73 (n)
(Canis familiaris)
Mammalia JRK 33
  • 79.67 (n)
(Rattus norvegicus)
Mammalia Jrk 33
  • 79.14 (n)
(Mus musculus)
Mammalia Jrk 33 16
  • 78.72 (n)
(Bos Taurus)
Mammalia JRK 33
  • 77.86 (n)
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

Gene Tree for JRK (if available)
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
rs1000028328 -- 142,661,012(+) ACTAG(A/C)AATCA intron-variant, utr-variant-3-prime
rs1000042157 -- 142,663,598(+) CTATC(C/T)GGGTG intron-variant, utr-variant-3-prime
rs1000081743 -- 142,661,207(+) TGCCT(A/G)GGGTG intron-variant, utr-variant-3-prime
rs1000432315 -- 142,669,360(+) GAGAG(C/T)GCCCG intron-variant, upstream-variant-2KB
rs1000484877 -- 142,669,533(+) AAATG(A/C/G)AGAAA intron-variant, upstream-variant-2KB

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

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

Relevant External Links for JRK Gene

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

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: HGMD, 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)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 (Biochemical and biophysical research communications 1998) 2 3 4 22 60
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  4. Intestinal stem cell overproliferation resulting from inactivation of the APC tumor suppressor requires the transcription cofactors Earthbound and Erect wing. (PMID: 28708826) Tian A … Ahmed Y (PLoS genetics 2017) 3 60
  5. JRK is a positive regulator of β-catenin transcriptional activity commonly overexpressed in colon, breast and ovarian cancer. (PMID: 26455321) Pangon L … Kohonen-Corish MR (Oncogene 2016) 3 60

Products for JRK Gene

Sources for JRK Gene

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