1. Gene
  2. INTS2 - integrator complex subunit 2 Gene

INTS2 - integrator complex subunit 2 Gene

中文名称:整合复合体亚基 2

种属: Homo sapiens

同用名: INT2; KIAA1287

基因 ID: 57508 | 基因类型: protein coding

关于 INTS2

Cytogenetic location: 17q23.2 Genomic coordinates (GRCh38): 17:61,865,367-61,927,982 (from NCBI)

This gene has 10 transcripts (splice variants) and 196 orthologues. Ubiquitous expression in testis (RPKM 3.6), lymph node (RPKM 3.3) and 25 other tissues.

功能概要

INTS2 是 Integrator 复合体的一个亚基,它与 RNA 聚合酶 II 大亚基 (POLR2A; MIM 180660) 的 C 端结构域结合,并介导小核 RNA U1 (RNU1; MIM 180680) 和 U2 ( RNU2;MIM 180690) (Baillat 等人,2005 [PubMed 16239144]) 。[OMIM 提供,2008 年 3 月]

INTS2 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]

INTS2 基因产物(3)

mRNA Protein Name
NM_001330417.2 NP_001317346.2 integrator complex subunit 2 isoform 2
NM_001351695.2 NP_001338624.2 integrator complex subunit 2 isoform 2
NM_020748.4 NP_065799.2 integrator complex 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
16239144 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in snRNA processing IDA
IDA: 通过直接分析推断
16239144 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
23904267 GOA
part of integrator complex IDA
IDA: 通过直接分析推断
16239144 GOA
located in nucleus IDA
IDA: 通过直接分析推断
23904267 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

INTS2 蛋白结构

INTS2

INTS2: Integrator complex subunit 2 (32 - 1137)

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  • 1204 a.a.
蛋白主名 其他名称

integrator complex subunit 2

INTS2 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
INTS2 Q9H0H0 DEF6 Homo sapiens Q9H4E7
Validated Y2H
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
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4

PEOA4

Autosomal Dominant Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions 4

Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 4

Chronic Progressive External Ophthalmoplegia

Progressive External Ophthalmoplegia, Autosomal Dominant 4

Autosomal Dominant Progressive External Ophthalmoplegia 4

Cpeo

Graefe Disease

Mitochondrial Ocular Myopathy

Ocular Myopathy Of Von Graefe-Fuchs

Progressive External Ophthalmoplegia Autosomal Dominant 4

Ophthalmoplegia, External, Progressive, With Mitochondrial Dna Deletions, Autosomal Dominant, Type 4

Kearns-Sayre Syndrome

Multiple Benign Circumferential Skin Creases On Limbs

Ccsf

Circumferential Skin Creases, Kunze Type

Congenital Circumferential Skin Folds

Kunze-Riehm Syndrome

Kunze Riehm Syndrome

Michelin Tire Baby 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
Macaca mulatta INTS2 VGNC VGNC:73681
Felis catus INTS2 VGNC VGNC:62943
Mus musculus INTS2 MGD MGI:1917672
Canis familiaris INTS2 VGNC VGNC:42051
Bos taurus INTS2 VGNC VGNC:30228
Rattus norvegicus INTS2 RGD RGD:1305547