JRK - Jrk helix-turn-helix protein Gene

Also Known as JH8; jerky

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 8629

About JRK

Cytogenetic location: 8q24.3 Genomic coordinates (GRCh38): 8:142,643,682-142,669,967 (from NCBI)

This gene has 11 transcripts (splice variants), 118 orthologues, 11 paralogues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 2.4), ovary (RPKM 2.3) and 24 other tissues.

Summary

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]

JRK Products (3)

mRNA Protein Name
NM_001077527.3 NP_001070995.2 jerky protein homolog isoform b
NM_001279352.2 NP_001266281.1 jerky protein homolog isoform b
NM_003724.4 NP_003715.3 jerky protein homolog isoform a

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
21399610 GOA
Biological Process GO Annotation Evidence References Source
involved in positive regulation of canonical Wnt signaling pathway IMP
IMP: Inferred from mutant phenotype
21399610 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

jerky protein homolog

  • Jrk homolog

JRK Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
JRK O75564 CTNNB1 Homo sapiens P35222
Pull Down
21399610
Cross
JRK O75564 Lef1 Mus musculus P27782
Pull Down
21399610
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Childhood Absence Epilepsy

  • Pyknolepsy

  • Petit Mal Epilepsy

  • Absence Seizures

  • Absence Seizure

  • Petit Mal Seizure

  • Absence Epilepsy, Childhood

  • Pykno-Epilepsy

  • Epilepsy, Absence

  • Absence Epilepsy

  • Pycnolepsy
Epilepsy, Myoclonic Juvenile

  • Juvenile Myoclonic Epilepsy

  • Janz Syndrome

  • Jme

  • Myoclonic Epilepsy, Juvenile, Susceptibility To, 1

  • EJM

  • Myoclonic Epilepsy, Juvenile

  • Petit Mal, Impulsive

  • Myoclonic Epilepsy, Juvenile 1

  • Myoclonic Epilepsy, Juvenile, 1

  • Adolescent Myoclonic Epilepsy

  • Juvenile Myoclonus Epilepsy

  • Juvenile Myoclonic Epilepsy 1

  • EJM1

  • Petit Mal Impulsive

  • Susceptibility To Juvenile Myoclonic Epilepsy 1

  • Myoclonic Epilepsy Juvenile

  • Epilepsy, Myoclonic, Juvenile

  • Myoclonic Epilepsy Of Janz

  • Jme - [Juvenile Myoclonic Epilepsy]
Epilepsy

  • Epilepsy Syndrome

  • Epileptic Syndrome

  • Epilepsies

  • Symptomatic Epilepsies

  • Post Traumatic Epilepsy

  • Traumatic Epilepsy

  • Traumatic Epileptic

  • Epilepsy Due To Hippocampal Sclerosis

  • Epilepsy With Ammon'S Horn Sclerosis

  • Epilepsy Due To Cortical Dysplasia

  • Epilepsy Due To Neuronal Migration Disorders
Argyll Robertson Pupil

  • Atypical Argyll-Robertson Pupil

  • Argyll Robertson Phenomenon Or Pupil, Nonsyphilitic

  • Argyll Robertson Pupil, Atypical
Abnormal Pupillary Function
Epilepsy, Idiopathic Generalized

  • Idiopathic Generalized Epilepsy

  • Generalised Epilepsy

  • Epilepsy, Generalized

  • EIG

  • Ige

  • Epilepsy, Idiopathic Generalized, Susceptibility To, 1

  • Epilepsy, Idiopathic Generalized 1

  • Epilepsy, Idiopathic Generalized, Susceptibility To

  • Epilepsy, Idiopathic, Generalized

  • Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 1
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS07051 JRK Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus JRK VGNC VGNC:81663
Mus musculus JRK MGD MGI:106214
Rattus norvegicus JRK RGD RGD:1306316
Macaca mulatta JRK VGNC VGNC:73957
Bos taurus JRK VGNC VGNC:106789
Others JRK NCBI