1. Gene
  2. JRK - Jrk helix-turn-helix protein Gene

JRK - Jrk helix-turn-helix protein Gene

中文名称:Jrk 螺旋-转角-螺旋蛋白

种属: Homo sapiens

同用名: JH8; jerky

基因 ID: 8629 | 基因类型: protein coding

关于 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.

功能概要

该基因编码一种类似于 DNA 结合蛋白的保守蛋白,例如主要着丝粒自身抗原 B (CENPB) 。小鼠相关基因的失活导致癫痫发作。儿童失神癫痫 (CAE) 已被定位到与该基因相同的染色体位置 (8q24.3) 。可变剪接导致多个转录本变体。[RefSeq 提供,2013 年 7 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
21399610 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of canonical Wnt signaling pathway IMP
IMP: 通过突变表型推断
21399610 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断
蛋白主名 其他名称

jerky protein homolog

Jrk homolog

JRK 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
JRK O75564 CTNNB1 Homo sapiens P35222 21399610
种属间
JRK O75564 Lef1 Mus musculus P27782 21399610
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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