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  2. MAGEA2 - MAGE family member A2 Gene

MAGEA2 - MAGE family member A2 Gene

中文名称:MAGE 家族成员 A2

种属: Homo sapiens

同用名: CT1.2; MAGE2; MAGEA2A

基因 ID: 4101 | 基因类型: protein coding

关于 MAGEA2

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:152,749,863-152,753,884 (from NCBI)

This gene has 10 transcripts (splice variants), 459 orthologues and 37 paralogues. Restricted expression toward testis (RPKM 2.8).

功能概要

该基因是 MAGEA 基因家族的成员。这个家族的成员编码的蛋白质彼此之间有 50% 到 80% 的序列同一性。 MAGEA 基因的启动子和第一个外显子显示出相当大的变异性,表明该基因家族的存在使得相同的功能能够在不同的转录控制下表达。 MAGEA 基因聚集在染色体位置 Xq28。它们与某些遗传性疾病有关,例如先天性角化不良。该基因在不同位点有两个相同的拷贝。已经为该基因鉴定了编码相同蛋白质的可变剪接转录物变体。[RefSeq 提供,2008 年 7 月]

This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each Other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. This gene has two identical copies at different loci. Alternatively spliced transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]

MAGEA2 基因产物(8)

mRNA Protein Name
NM_001282501.2 NP_001269430.1 melanoma-associated antigen 2
NM_001282502.1 NP_001269431.1 melanoma-associated antigen 2
NM_001282504.1 NP_001269433.1 melanoma-associated antigen 2
NM_001282505.1 NP_001269434.1 melanoma-associated antigen 2
NM_001386130.2 NP_001373059.1 melanoma-associated antigen 2
NM_005361.3 NP_005352.1 melanoma-associated antigen 2
NM_175742.2 NP_786884.1 melanoma-associated antigen 2
NM_175743.2 NP_786885.1 melanoma-associated antigen 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 DNA-binding transcription factor binding IDA
IDA: 通过直接分析推断
16847267 GOA
enables histone deacetylase binding IDA
IDA: 通过直接分析推断
16847267 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16847267 GOA
enables ubiquitin protein ligase binding IDA
IDA: 通过直接分析推断
20864041 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cellular senescence IDA
IDA: 通过直接分析推断
22117195 GOA
involved in negative regulation of protein acetylation IDA
IDA: 通过直接分析推断
22117195 GOA
involved in negative regulation of protein sumoylation IDA
IDA: 通过直接分析推断
22117195 GOA
involved in negative regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
16847267 GOA
involved in positive regulation of ubiquitin-protein transferase activity IMP
IMP: 通过突变表型推断
20864041 GOA
involved in protein catabolic process IMP
IMP: 通过突变表型推断
20864041 GOA
involved in signal transduction by p53 class mediator IDA
IDA: 通过直接分析推断
16847267 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in PML body IDA
IDA: 通过直接分析推断
22117195 GOA
located in nucleus IDA
IDA: 通过直接分析推断
16847267 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
蛋白主名 其他名称

melanoma-associated antigen 2

MAGE-2 antigen

关联疾病

疾病名称 别名
Melanoma

Malignant Melanoma

Cutaneous Melanoma

Naevocarcinoma

Malignant Melanomas

Dyskeratosis Congenita

Dyskeratosis Congenita Autosomal Dominant

Dc

Dkc

Zinsser-Engman-Cole Syndrome

Dyskeratosis Congenita, Autosomal Dominant

Autosomal Dominant Dyskeratosis Congenita

Dkca

Dyskeratosis Congenita Scoggins Type

Zinsser-Cole-Engman Syndrome

X-Linked Dyskeratosis Congenita

Hoyeraal-Hreidarsson 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