2. Gene
  3. BABAM2 - BRISC and BRCA1 A complex member 2 Gene

BABAM2 - BRISC and BRCA1 A complex member 2 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：BRISC 和 BRCA1 复合成员 2

种属: Homo sapiens

同用名: BRE; BRCC4; BRCC45

基因 ID: 9577 | 基因类型: protein coding

关于 BABAM2

Cytogenetic location: 2p23.2 Genomic coordinates (GRCh38): 2:27,888,709-28,338,901 (from NCBI)

This gene has 11 transcripts (splice variants) and 204 orthologues. Ubiquitous expression in adrenal (RPKM 43.3), heart (RPKM 14.4) and 24 other tissues.

功能概要

该基因编码一种与肿瘤坏死因子-受体-1 相互作用的抗凋亡、死亡受体相关蛋白。编码的蛋白质在多种蛋白质复合物中充当衔接子，包括 BRCA1-A 复合物和 BRISC 复合物。 BRCA1-A 复合物具有泛素化酶活性并靶向双链 DNA 断裂位点，而 BRISC 复合物具有去泛素化酶活性并参与有丝分裂纺锤体组装。该基因在几种类型的癌症中被上调。[RefSeq 提供，2016 年 6 月]

This gene encodes an anti-apoptotic, death receptor-associated protein that interacts with tumor necrosis factor-receptor-1. The encoded protein acts as an adapter in several protein complexes, including the BRCA1-A complex and the BRISC complex. The BRCA1-A complex possesses ubiquitinase activity and targets sites of double strand DNA breaks, while the BRISC complex exhibits Deubiquitinase activity and is involved in mitotic spindle assembly. This gene is upregulated in several types of Cancer. [provided by RefSeq, Jun 2016]

BABAM2 基因产物(10)

mRNA Protein Name
NM_001261840.2 NP_001248769.1 BRISC and BRCA1-A complex member 2 isoform 4
NM_001329112.1 NP_001316041.1 BRISC and BRCA1-A complex member 2 isoform 2
NM_001329113.2 NP_001316042.1 BRISC and BRCA1-A complex member 2 isoform 1
NM_001329114.2 NP_001316043.1 BRISC and BRCA1-A complex member 2 isoform 5
NM_001329115.2 NP_001316044.1 BRISC and BRCA1-A complex member 2 isoform 6
NM_004899.5 NP_004890.2 BRISC and BRCA1-A complex member 2 isoform 1
NM_199191.3 NP_954661.1 BRISC and BRCA1-A complex member 2 isoform 2
NM_199192.3 NP_954662.1 BRISC and BRCA1-A complex member 2 isoform 3
NM_199193.3 NP_954663.1 BRISC and BRCA1-A complex member 2 isoform 3
NM_199194.3 NP_954664.1 BRISC and BRCA1-A complex member 2 isoform 2
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 polyubiquitin modification-dependent protein binding IDA
IDA: 通过直接分析推断
19261749 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
14636569 GOA
enables tumor necrosis factor receptor binding IDA
IDA: 通过直接分析推断
15465831 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in DNA damage response IEP
IEP: 通过表达模式推断
7826398 GOA
involved in cellular response to ionizing radiation IMP
IMP: 通过突变表型推断
14636569 GOA
involved in double-strand break repair IMP
IMP: 通过突变表型推断
19261748 GOA
involved in mitotic G2 DNA damage checkpoint signaling IMP
IMP: 通过突变表型推断
19261748 GOA
involved in negative regulation of apoptotic process IDA
IDA: 通过直接分析推断
15465831 GOA
involved in positive regulation of DNA repair IMP
IMP: 通过突变表型推断
19261748 GOA
involved in response to ionizing radiation IMP
IMP: 通过突变表型推断
19261748 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of BRCA1-A complex IDA
IDA: 通过直接分析推断
17525341 GOA
part of BRISC complex IDA
IDA: 通过直接分析推断
19214193 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
15465831 GOA
part of nuclear ubiquitin ligase complex IDA
IDA: 通过直接分析推断
14636569 GOA
located in nucleus IDA
IDA: 通过直接分析推断
14636569 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

BABAM2 蛋白结构

BRE

BRE: Brain and reproductive organ-expressed protein (BRE) (1 - 333)

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

BRISC and BRCA1-A complex member 2

BRCA1-A complex subunit BRE

BABAM2 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
BABAM2 Q9NXR7 BABAM1 Homo sapiens Q9NWV8
Anti Bait CoIP
17353931
种属内
BABAM2 Q9NXR7 BABAM1 Homo sapiens Q9NWV8
Y2H Array
31515488
种属内
BABAM2 Q9NXR7 BABAM1 Homo sapiens Q9NWV8
BiLC
37398436
种属内
BABAM2 Q9NXR7 BABAM1 Homo sapiens Q9NWV8
Y2H Pooling
16189514
种属内
BABAM2 Q9NXR7 BABAM1 Homo sapiens Q9NWV8
Anti Tag CoIP
19615732
种属内
BABAM2 Q9NXR7 BABAM1 Homo sapiens Q9NWV8
Lumier
37398436
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
Microphthalmia, Syndromic 10

MCOPS10

Moba

Microphthalmia And Brain Atrophy

Syndromic Microphthalmia 10

Microphthalmia-Brain Atrophy Syndrome

Microphthalmia Syndromic 10

Moba Syndrome

Syndromic Microphthalmia Type 10
Brain Glioma

Lower Grade Glioma

Intracranial Glioma

Glioma Nos
Synchronous Bilateral Breast Carcinoma
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS01332 BABAM2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta BABAM2 VGNC VGNC:70048
Rattus norvegicus BABAM2 RGD RGD:735111
Felis catus BABAM2 VGNC VGNC:60067
Canis familiaris BABAM2 VGNC VGNC:38357
Bos taurus BABAM2 VGNC VGNC:26399
Mus musculus BABAM2 MGD MGI:1333875
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