1. Gene
  2. JOSD2 - Josephin domain containing 2 Gene

JOSD2 - Josephin domain containing 2 Gene

中文名称:含约瑟芬域 2

种属: Homo sapiens

同用名: SBBI54

基因 ID: 126119 | 基因类型: protein coding

关于 JOSD2

Cytogenetic location: 19q13.33 Genomic coordinates (GRCh38): 19:50,505,998-50,511,191 (from NCBI)

This gene has 6 transcripts (splice variants), 183 orthologues and 1 paralogue. Ubiquitous expression in fat (RPKM 7.4), stomach (RPKM 6.8) and 25 other tissues.

功能概要

该基因编码一种含有约瑟芬结构域的蛋白质。含有约瑟芬结构域的蛋白质是去泛素化酶,可催化泛素肽的 C 末端甘氨酸与蛋白质底物之间的键水解。已经观察到该基因编码多种亚型的可变剪接转录物变体。[RefSeq 提供,2012 年 7 月]

This gene encodes a protein containing a Josephin domain. Josephin domain-containing proteins are deubiquitinating Enzymes which catalyze the hydrolysis of the bond between the C-terminal glycine of the ubiquitin peptide and protein substrates. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]

JOSD2 基因产物(5)

mRNA Protein Name
NM_001270639.2 NP_001257568.1 josephin-2 isoform 1
NM_001270640.2 NP_001257569.1 josephin-2 isoform 1
NM_001270641.2 NP_001257570.1 josephin-2 isoform 2
NM_001270686.2 NP_001257615.1 josephin-2 isoform 1
NM_138334.4 NP_612207.1 josephin-2 isoform 1
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 cysteine-type deubiquitinase activity IDA
IDA: 通过直接分析推断
21118805 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
28514442 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in protein deubiquitination IDA
IDA: 通过直接分析推断
21118805 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

JOSD2 蛋白结构

Josephin

Josephin: Josephin (18 - 172)

  • 0
  • 100
  • 188 a.a.
蛋白主名 其他名称

josephin-2

josephin domain-containing protein 2

JOSD2 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
Intra JOSD2 Q8TAC2 CMTM5 Homo sapiens Q96DZ9-2
Y2H Array
32296183
Intra JOSD2 Q8TAC2 CMTM5 Homo sapiens Q96DZ9-2
Y2H Prey Pooling
32296183
Intra JOSD2 Q8TAC2 CMTM5 Homo sapiens Q96DZ9-2
Validated Y2H
32296183
Intra JOSD2 Q8TAC2 TRAPPC2 Homo sapiens P0DI81-3
Y2H Prey Pooling
32296183
Intra JOSD2 Q8TAC2 TRAPPC2 Homo sapiens P0DI81-3
Y2H Array
32296183
Intra JOSD2 Q8TAC2 AHCYL1 Homo sapiens O43865
Anti Tag CoIP
33961781
Intra JOSD2 Q8TAC2 AHCYL1 Homo sapiens O43865
Anti Tag CoIP
28514442
Intra JOSD2 Q8TAC2 YIF1A Homo sapiens O95070
Y2H Prey Pooling
32296183
Intra JOSD2 Q8TAC2 YIF1A Homo sapiens O95070
Y2H Array
32296183
Intra JOSD2 Q8TAC2 FKBP7 Homo sapiens Q9Y680
Validated Y2H
32296183
Intra JOSD2 Q8TAC2 FKBP7 Homo sapiens Q9Y680
Y2H Array
32296183
Intra JOSD2 Q8TAC2 FKBP7 Homo sapiens Q9Y680
Y2H Prey Pooling
32296183
Intra JOSD2 Q8TAC2 MDK Homo sapiens P21741
Y2H Array
32296183
Intra JOSD2 Q8TAC2 MDK Homo sapiens P21741
Y2H Prey Pooling
32296183
Intra JOSD2 Q8TAC2 SYP Homo sapiens P08247
Y2H Prey Pooling
32296183
Intra JOSD2 Q8TAC2 SYP Homo sapiens P08247
Y2H Array
32296183
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
Machado-Joseph Disease

SCA3

MJD

Spinocerebellar Ataxia 3

Azorean Disease

Spinocerebellar Ataxia Type 3

Spinocerebellar Atrophy

Azorean Neurologic Disease

Spinopontine Atrophy

Nigrospinodentatal Degeneration

Spinocerebellar Atrophy Iii

Spinocerebellar Atrophy Type 3

Azorean Ataxia

Azorean Disease Of The Nervous System

Machado Disease

Nigro-Spino-Dentatal Degeneration With Nuclear Ophthalmoplegia

Disease, Machado-Joseph

Ataxia, Spinocerebellar

Autosomal Dominant Cerebellar Ataxia

Spinocerebellar Ataxia

Adca

Pierre Marie Cerebellar Ataxia

Ataxia, Spinocerebellar

Sca

Autosomal Dominant Spinocerebellar Ataxia

Spinocerebellar Ataxias

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
Macaca mulatta JOSD2 VGNC VGNC:73919
Canis familiaris JOSD2 VGNC VGNC:42193
Mus musculus JOSD2 MGD MGI:1913374
Felis catus JOSD2 VGNC VGNC:63010
Rattus norvegicus JOSD2 RGD RGD:1307305
Bos taurus JOSD2 VGNC VGNC:57352
Others JOSD2 NCBI