1. Gene
  2. APEX2 - apurinic/apyrimidinic endodeoxyribonuclease 2 Gene

APEX2 - apurinic/apyrimidinic endodeoxyribonuclease 2 Gene

中文名称:脱嘌呤/脱嘧啶脱氧核糖核酸内切酶 2

种属: Homo sapiens

同用名: APE2; XTH2; ZGRF2; APEXL2

基因 ID: 27301 | 基因类型: protein coding

关于 APEX2

Cytogenetic location: Xp11.21 Genomic coordinates (GRCh38): X:55,000,363-55,009,057 (from NCBI)

This gene has 2 transcripts (splice variants), 177 orthologues and 1 paralogue. Ubiquitous expression in placenta (RPKM 8.8), lymph node (RPKM 8.7) and 25 other tissues.

功能概要

通过自发水解、DNA 损伤剂或去除特定异常碱基的 DNA 糖基化酶,脱嘌呤/脱嘧啶 (AP) 位点经常出现在 DNA 分子中。 AP 位点是诱变前病变,可以阻止正常的 DNA 复制,因此细胞包含识别和修复此类位点的系统。 II 类 AP 核酸内切酶将磷酸二酯主链从 5' 端切割至 AP 位点。该基因编码的蛋白质具有弱的 II 类 AP 核酸内切酶活性。大多数编码的蛋白质位于细胞核中,但一些也存在于线粒体中。这种蛋白质可能在细胞核和线粒体碱基切除修复中发挥重要作用。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 11 月]

Apurinic/apyrimidinic (AP) sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases that remove specific abnormal Bases. AP sites are pre-mutagenic lesions that can prevent normal DNA replication so the cell contains systems to identify and repair such sites. Class II AP endonucleases cleave the phosphodiester backbone 5' to the AP site. This gene encodes a protein shown to have a weak class II AP Endonuclease activity. Most of the encoded protein is located in the nucleus but some is also present in mitochondria. This protein may play an important role in both nuclear and mitochondrial base excision repair. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012]

APEX2 基因产物(2)

mRNA Protein Name
NM_001271748.2 NP_001258677.1 DNA-(apurinic or apyrimidinic site) endonuclease 2 isoform 2
NM_014481.4 NP_055296.2 DNA-(apurinic or apyrimidinic site) endonuclease 2 isoform 1
基因本体论
  • 分子功能
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
28514442 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

APEX2 蛋白结构

Exo_endo_phos

Exo_endo_phos: Endonuclease/Exonuclease/phosphatase family (5 - 304)

zf-GRF

zf-GRF: GRF zinc finger (467 - 514)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 518 a.a.
蛋白主名 其他名称

DNA-(apurinic or apyrimidinic site) endonuclease 2

AP endonuclease 2

APEX2 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
APEX2 Q9UBZ4 MKRN3 Homo sapiens Q13064 32296183
种属内
APEX2 Q9UBZ4 MKRN3 Homo sapiens Q13064 32296183
种属内
APEX2 Q9UBZ4 APBA2 Homo sapiens Q99767 33961781
种属内
APEX2 Q9UBZ4 APBA2 Homo sapiens Q99767 28514442
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
Autoimmune Epilepsy
La Crosse Encephalitis

California Encephalitis

California Virus Encephalitis

Neuroinvasive California Encephalitis Virus Infection

Californian Encephalitis

Encephalitis, California

California Meningoencephalitis

California Encephalitis Virus Infection

California Encephalitis Virus Infection Neuroinvasive Disease

California Meningoencephalitis Virus Disease

California Serogroup Virus Neuroinvasive Disease

California Viral Encephalitis

Ce - [California Encephalitis]

Lac - [La Crosse Encephalitis]

Hereditary Angioedema

Hereditary Angioneurotic Edema

Hereditary Angioedema Type 1

Hane

Angioedema, Hereditary

Hae

Angioedemas, Hereditary

Deficiency Of C1 Esterase Inhibitor

C1 Esterase Inhibitor Deficiency

C1 Inhibitor Deficiency

Familial Angioneurotic Edema

Hereditary Bradykinine-Induced Angioedema

Hereditary Non Histamine-Induced Angioedema

Hae 1

Hae-I

Hereditary Angioneurotic Edema Type 1

Hereditary C1 Esterase Inhibitor Deficiency - Deficient Factor

Hereditary Angioedema Types I And Ii

Hereditary Angioneurotic Oedema

Familial Angioedema

Hae - [Hereditary Angioneurotic Oedema]

Bannister Disease, Hereditary

Quincke Disease Or Oedema

Hereditary Quincke Oedema

Cockayne Syndrome B

Cockayne Syndrome Type 2

Cockayne Syndrome, Type B

Cockayne Syndrome Type Ii

CSB

Cockayne Syndrome 2

Cockayne Syndrome Type B

Ckn2

Cockayne Syndrome, Type Ii

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
Canis familiaris APEX2 VGNC VGNC:37983
Mus musculus APEX2 MGD MGI:1924872
Bos taurus APEX2 VGNC VGNC:26012
Macaca mulatta APEX2 VGNC VGNC:69857
Felis catus APEX2 VGNC VGNC:59848
Rattus norvegicus APEX2 RGD RGD:1565983