Homo sapiens Gene: JRK | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Gene | IDBG-305040.4 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | JRK | ||||||||||||||||||
Gene Name | jerky homolog (mouse) | ||||||||||||||||||
Synonyms | jerky; JH8 | ||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Gene | ENSG00000234616 | ||||||||||||||||||
Encoded Proteins |
Jrk homolog (mouse)
Jrk homolog (mouse)
Jrk homolog (mouse)
Jrk homolog (mouse)
Jrk homolog (mouse)
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Protein Structure | |||||||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
Entrez Gene | |||||||||||||||||||
Summary |
This gene is the human homolog of the mouse jerky gene. The encoded protein has similarity to several nuclear regulatory proteins, including centromere protein B, suggesting that it might function as a DNA-binding protein. Insertional inactivation of this gene in transgenic mice resulted in epileptic seizures. Childhood Absence Epilepsy (CAE) has been mapped to the same chromosomal location (8q24.3) as this gene, making this gene a strong candidate for CAE. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 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] |
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Gene Information | |||||||||||||||||||
Type | Protein coding | ||||||||||||||||||
Genomic Location | Chromosome 8:142657460-142681968 | ||||||||||||||||||
Strand | Reverse strand | ||||||||||||||||||
Band | q24.3 | ||||||||||||||||||
Transcripts | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||
No orthologs found for this gene | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | |||||||||||||||||||
TrEMBL | D3DWI5 O75566 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 8629 | ||||||||||||||||||
UniGene | |||||||||||||||||||
RefSeq | NM_001279352 NM_001077527 NM_003724 XM_006716677 XM_006716678 XM_006716679 | ||||||||||||||||||
HUGO | HGNC:6199 | ||||||||||||||||||
OMIM | 603210 | ||||||||||||||||||
CCDS | CCDS75797 CCDS75796 | ||||||||||||||||||
HPRD | |||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AF072469 CH471162 | ||||||||||||||||||
GenPept | AAC32354 EAW82316 EAW82317 | ||||||||||||||||||
RNA Seq Atlas | 8629 | ||||||||||||||||||