JRK - Jrk helix-turn-helix protein Gene

Homo sapiens

Also known as JH8; jerky

Gene ID: 8629 | Gene type: protein coding

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	21399610	GOA

Biological Process GO Annotation	Evidence	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07051	JRK Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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