1. Gene
  2. EME2 - essential meiotic structure-specific endonuclease subunit 2 Gene

EME2 - essential meiotic structure-specific endonuclease subunit 2 Gene

中文名称:必需的减数分裂结构特异性核酸内切酶亚基 2

种属: Homo sapiens

同用名: SLX2B; gs125

基因 ID: 197342 | 基因类型: protein coding

关于 EME2

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:1,772,810-1,781,702 (from NCBI)

This gene has 6 transcripts (splice variants), 138 orthologues and 1 paralogue. Ubiquitous expression in prostate (RPKM 3.4), duodenum (RPKM 3.1) and 24 other tissues.

功能概要

EME2 与 MUS81 (MIM 606591) 形成异二聚体,在 DNA 修复中充当 XPF (MIM 278760) 型瓣/叉核酸内切酶 (Ciccia 等人,2007 [PubMed 17289582]) 。[OMIM 提供,2008 年 3 月]

EME2 forms a heterodimer with MUS81 (MIM 606591) that functions as an XPF (MIM 278760)-type FLAP/fork Endonuclease in DNA repair (Ciccia et al., 2007 [PubMed 17289582]).[supplied by OMIM, Mar 2008]

EME2 基因产物(1)

mRNA Protein Name
NM_001257370.2 NP_001244299.1 probable crossover junction endonuclease EME2
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
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
17289582 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in double-strand break repair IDA
IDA: 通过直接分析推断
17289582 GOA
involved in replication fork processing IDA
IDA: 通过直接分析推断
17289582 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of endodeoxyribonuclease complex IPI
IPI: 通过物理相互作用推断
17289582 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

EME2 蛋白结构

ERCC4

ERCC4: ERCC4 domain (80 - 249)

  • 0
  • 100
  • 200
  • 300
  • 379 a.a.
蛋白主名 其他名称

probable crossover junction endonuclease EME2

SLX2 structure-specific endonuclease subunit homolog B

EME2 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
EME2 A4GXA9 MUS81 Homo sapiens Q96NY9
Pull Down
17289582
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
Combined Oxidative Phosphorylation Deficiency 32

COXPD32

Leigh Syndrome

Leigh Disease

Infantile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency

LS

Sne

Leigh'S Disease

Leigh Syndrome Due To Mitochondrial Complex I Deficiency

Necrotizing Encephalopathy, Infantile Subacute, Of Leigh

Subacute Necrotizing Encephalomyelopathy

Necrotizing Encephalopathy Infantile Subacute Of Leigh

Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency

Infantile Necrotizing Encephalomyelopathy

Juvenile Subacute Necrotizing Encephalomyelopathy

Leigh'S Necrotizing Encephalopathy

Subacute Necrotizing Encephalopathy

Juvenile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency

Leigh Syndrome Due To Mitochondrial Complex V Deficiency

Encephalopathy, Subacute Necrotizing, Infantile

Encephalopathy, Subacute Necrotizing, Juvenile

Maternally Inherited Leigh Syndrome

Subacute Necrotising Encephalomyelopathy

Subacute Necrotising Encephalopathy

Kbg Syndrome

KBGS

Macrodontia, Mental Retardation, Characteristic Facies, Short Stature, And Skeletal Anomalies

Short Stature, Characteristic Facies, Macrodontia, Intellectual Disability, And Skeletal Anomalies

Short Stature, Characteristic Facies, Macrodontia, Mental Retardation, And Skeletal Anomalies

Short Stature-Characteristic Facies-Mental Retardation-Macrodontia-Skeletal Anomalies Syndrome

Short Stature-Facial And Skeletal Anomalies-Intellectual Disability-Macrodontia Syndrome

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
Bos taurus EME2 VGNC VGNC:28471
Rattus norvegicus EME2 RGD RGD:1304924
Macaca mulatta EME2 VGNC VGNC:104695
Felis catus EME2 VGNC VGNC:61842
Mus musculus EME2 MGD MGI:1919889