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  2. POLE2 - DNA polymerase epsilon 2, accessory subunit Gene

POLE2 - DNA polymerase epsilon 2, accessory subunit Gene

中文名称:DNA 聚合酶 epsilon 2,辅助亚基

种属: Homo sapiens

同用名: DPE2

基因 ID: 5427 | 基因类型: protein coding

关于 POLE2

Cytogenetic location: 14q21.3 Genomic coordinates (GRCh38): 14:49,643,555-49,688,214 (from NCBI)

This gene has 13 transcripts (splice variants) and 201 orthologues. Broad expression in bone marrow (RPKM 3.7), appendix (RPKM 1.6) and 21 other tissues.

功能概要

参与 DNA 修复和复制的 DNA 聚合酶 epsilon 由一个大的催化亚基和一个小的辅助亚基组成。该基因编码的蛋白质代表小亚基 (B) 。该基因的缺陷与结直肠癌和联合免疫缺陷有关。[RefSeq 提供,2017 年 1 月]

DNA Polymerase epsilon, which is involved in DNA repair and replication, is composed of a large catalytic subunit and a small accessory subunit. The protein encoded by this gene represents the small subunit (B). Defects in this gene have been linked to colorectal Cancer and to combined immunodeficiency. [provided by RefSeq, Jan 2017]

POLE2 基因产物(5)

mRNA Protein Name
NM_001197330.2 NP_001184259.1 DNA polymerase epsilon subunit 2 isoform 2
NM_001197331.3 NP_001184260.1 DNA polymerase epsilon subunit 2 isoform 3
NM_001348384.2 NP_001335313.1 DNA polymerase epsilon subunit 2 isoform 4
NM_001348385.2 NP_001335314.1 DNA polymerase epsilon subunit 2 isoform 5
NM_002692.4 NP_002683.2 DNA polymerase epsilon subunit 2 isoform 1
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
10801849 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in DNA-templated DNA replication IDA
IDA: 通过直接分析推断
33051204 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of epsilon DNA polymerase complex IDA
IDA: 通过直接分析推断
10801849 GOA
part of epsilon DNA polymerase complex IPI
IPI: 通过物理相互作用推断
10801849 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

POLE2 蛋白结构

Dpoe2NT

Dpoe2NT: DNA polymerases epsilon N terminal (3 - 74)

DNA_pol_E_B

DNA_pol_E_B: DNA polymerase alpha/epsilon subunit B (287 - 489)

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

DNA polymerase epsilon subunit 2

DNA polymerase II subunit 2

POLE2 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 POLE2 P56282 MAPRE1 Homo sapiens Q15691
Validated Y2H
32296183
Intra POLE2 P56282 MAPRE1 Homo sapiens Q15691
Y2H Array
25416956
Intra POLE2 P56282 MAPRE1 Homo sapiens Q15691
Y2H Prey Pooling
32296183
Intra POLE2 P56282 MAPRE1 Homo sapiens Q15691
Y2H Array
32296183
Intra POLE2 P56282 TBX15 Homo sapiens Q96SF7
Y2H Array
25416956
Intra POLE2 P56282 TBX15 Homo sapiens Q96SF7
Y2H Prey Pooling
25416956
Intra POLE2 P56282 HEL-S-30 Homo sapiens V9HWB8
Y2H Prey Pooling
25416956
Intra POLE2 P56282 REL Homo sapiens Q04864
Y2H Prey Pooling
25416956
Intra POLE2 P56282 POLE Homo sapiens Q07864
Y2H Array
32296183
Intra POLE2 P56282 POLE Homo sapiens Q07864
Anti Tag CoIP
33961781
Intra POLE2 P56282 POLE Homo sapiens Q07864
Validated Y2H
32296183
Intra POLE2 P56282 POLE Homo sapiens Q07864
Anti Bait CoIP
10801849
Intra POLE2 P56282 POLE Homo sapiens Q07864
Y2H Prey Pooling
32296183
Intra POLE2 P56282 EXOSC4 Homo sapiens Q9NPD3
Validated Y2H
32296183
Intra POLE2 P56282 EXOSC4 Homo sapiens Q9NPD3
Y2H Array
32296183
Intra POLE2 P56282 EXOSC4 Homo sapiens Q9NPD3
Y2H Prey Pooling
32296183
Intra POLE2 P56282 CYP4F12 Homo sapiens Q9HCS2
Anti Tag CoIP
28514442
Intra POLE2 P56282 CYP4F12 Homo sapiens Q9HCS2
Anti Tag CoIP
33961781
Intra POLE2 P56282 ZNF620 Homo sapiens Q6ZNG0
Validated Y2H
32296183
Intra POLE2 P56282 ZNF620 Homo sapiens Q6ZNG0
Y2H Array
32296183
Intra POLE2 P56282 ZNF620 Homo sapiens Q6ZNG0
Y2H Prey Pooling
32296183
Intra POLE2 P56282 TRIM27 Homo sapiens P14373
Y2H Array
31515488
Intra POLE2 P56282 TRIM27 Homo sapiens P14373
Validated Y2H
25416956
Intra POLE2 P56282 TRIM27 Homo sapiens P14373
Y2H Prey Pooling
32296183
Intra POLE2 P56282 TRIM27 Homo sapiens P14373
Y2H Array
32296183
Intra POLE2 P56282 ZBED1 Homo sapiens O96006
Y2H Prey Pooling
32296183
Intra POLE2 P56282 ZBED1 Homo sapiens O96006
Y2H Array
32296183
Intra POLE2 P56282 SORBS3 Homo sapiens O60504
Y2H Prey Pooling
32296183
Intra POLE2 P56282 UBQLN2 Homo sapiens Q9UHD9
Y2H Prey Pooling
32296183
Intra POLE2 P56282 UBQLN2 Homo sapiens Q9UHD9
Validated Y2H
32296183
Intra POLE2 P56282 UBQLN2 Homo sapiens Q9UHD9
Y2H Array
32296183
Intra POLE2 P56282 AGFG1 Homo sapiens P52594
Validated Y2H
25416956
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
Hypothyroidism, Congenital, Nongoitrous, 6

CHNG6

Congenital Nongoitrous Hypothyroidism 6

Hypothyroidism, Congenital, Non-Goitrous, 6

Hypothyroidism, Congenital, Nongoitrous, Type 6

Holoprosencephaly 2

HPE2

Holoprosencephaly-2

Holoprosencephaly, Type 2

Combined Immunodeficiency

Combined T Cell And B Cell Immunodeficiency

Congenital Combined Immunodeficiency

Syndrome With Combined Immunodeficiency

Combined T And B Cell Immunodeficiency

Combined Immunity Deficiency

Combined Immunodeficiency Syndrome

Combined T-Cell And B-Cell Immunodeficiency

Lymphopenic Agammaglobulinaemia

Breast Mucinous Carcinoma

Mucinous Carcinoma Of Breast

Invasive Mucinous Breast Carcinoma

Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

Bardet-Biedl Syndrome 1

BBS1

Bardet-Biedl Syndrome 1, Modifier Of

Bardet-Biedl Syndrome

BBS

Bardet-Biedl Syndrome, Type 1

Laurence-Moon-Bardet-Biedl Syndrome

Meier-Gorlin Syndrome 1

Meier-Gorlin Syndrome

Ear, Patella, Short Stature Syndrome

Microtia, Absent Patellae, Micrognathia Syndrome

MGORS1

Eps

Ear-Patella-Short Stature Syndrome

Ear Patella Short Stature Syndrome

Microtia Absent Patellae Micrognathia Syndrome

Meier-Gorlin Syndrome, 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 POLE2 VGNC VGNC:68939
Bos taurus POLE2 VGNC VGNC:33119
Macaca mulatta POLE2 VGNC VGNC:76204
Mus musculus POLE2 MGD MGI:1197514
Rattus norvegicus POLE2 RGD RGD:1311962