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  2. UPF2 - UPF2 regulator of nonsense mediated mRNA decay Gene

UPF2 - UPF2 regulator of nonsense mediated mRNA decay Gene

中文名称:无意义介导的 mRNA 衰变的 UPF2 调节器

种属: Homo sapiens

同用名: HUPF2; RENT2; smg-3

基因 ID: 26019 | 基因类型: protein coding

关于 UPF2

Cytogenetic location: 10p14 Genomic coordinates (GRCh38): 10:11,920,022-12,043,170 (from NCBI)

This gene has 4 transcripts (splice variants) and 219 orthologues. Ubiquitous expression in testis (RPKM 11.8), lymph node (RPKM 8.5) and 25 other tissues.

功能概要

该基因编码的蛋白质是参与 mRNA 核输出和 mRNA 监视的剪接后多蛋白复合物的一部分。 mRNA 监测检测具有截短开放阅读框的输出 mRNA,并启动无义介导的 mRNA 衰变 (NMD) 。当翻译在最后一个外显子-外显子连接处的上游结束时,这会触发 NMD 降解含有过早终止密码子的 mRNA。这种蛋白质位于核周区域。它与翻译释放因子和作为酵母 Upf1p 和 Upf3p 功能同系物的蛋白质相互作用。已发现该基因的两个剪接变体;两种变体编码相同的蛋白质。[RefSeq 提供,2008 年 7 月]

This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein is located in the perinuclear area. It interacts with translation release factors and the proteins that are functional homologs of yeast Upf1p and Upf3p. Two splice variants have been found for this gene; both variants encode the same protein. [provided by RefSeq, Jul 2008]

UPF2 基因产物(2)

mRNA Protein Name
NM_015542.4 NP_056357.1 regulator of nonsense transcripts 2
NM_080599.3 NP_542166.1 regulator of nonsense transcripts 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 protein binding IPI
IPI: 通过物理相互作用推断
11163187 GOA
enables telomeric DNA binding IDA
IDA: 通过直接分析推断
17916692 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay IMP
IMP: 通过突变表型推断
18369367 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
14636577 GOA
part of exon-exon junction complex IDA
IDA: 通过直接分析推断
16601204 GOA
located in nucleus IDA
IDA: 通过直接分析推断
14636577 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

UPF2 蛋白结构

MIF4G

MIF4G: MIF4G domain (169 - 412)

MIF4G

MIF4G: MIF4G domain (573 - 757)

MIF4G

MIF4G: MIF4G domain (777 - 986)

Upf2

Upf2: Up-frameshift suppressor 2 (1046 - 1218)

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  • 1000
  • 1200
  • 1272 a.a.
蛋白主名 其他名称

regulator of nonsense transcripts 2

FRS2/UPF2/LEMD3 fusion

UPF2 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 UPF2 Q9HAU5 PUF60 Homo sapiens Q9UHX1
Validated Y2H
25416956
Intra UPF2 Q9HAU5 PUF60 Homo sapiens Q9UHX1
Y2H Prey Pooling
25416956
Intra UPF2 Q9HAU5 PUF60 Homo sapiens Q9UHX1
Y2H Array
25416956
Intra UPF2 Q9HAU5 UPF3B Homo sapiens Q9BZI7-2
Pull Down
18066079
Intra UPF2 Q9HAU5 UPF3B Homo sapiens Q9BZI7-2
TEM
22522823
Intra UPF2 Q9HAU5 UPF3B Homo sapiens Q9BZI7-2
GMS
22522823
Intra UPF2 Q9HAU5 UPF3B Homo sapiens Q9BZI7
Anti Bait CoIP
16452507
Intra UPF2 Q9HAU5 UPF3B Homo sapiens Q9BZI7
Anti Bait CoIP
11163187
Intra UPF2 Q9HAU5 UPF3B Homo sapiens Q9BZI7
Y2H
15231747
Intra UPF2 Q9HAU5 UPF3B Homo sapiens Q9BZI7
Anti Tag CoIP
12718880
Intra UPF2 Q9HAU5 UPF3B Homo sapiens Q9BZI7
Anti Bait CoIP
19503078
Intra UPF2 Q9HAU5 UPF1 Homo sapiens Q92900
Anti Bait CoIP
11163187
Intra UPF2 Q9HAU5 UPF1 Homo sapiens Q92900-2
Pull Down
18066079
Intra UPF2 Q9HAU5 UPF1 Homo sapiens Q92900-2
ATPase Assay
18066079
Intra UPF2 Q9HAU5 UPF3A Homo sapiens Q9H1J1
Pull Down
19503078
Intra UPF2 Q9HAU5 UPF3A Homo sapiens Q9H1J1
Anti Bait CoIP
19503078
Intra UPF2 Q9HAU5 UPF3A Homo sapiens Q9H1J1
SPR
20479275
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
Pancreatic Adenosquamous Carcinoma

Adenosquamous Carcinoma Of Pancreas

Adenosquamous Carcinoma Of The Pancreas

Atrial Septal Defect 8

ASD8

Atrial Heart Septal Defect 8

Septal Defect, Atrial, Type 8

Metaphyseal Chondrodysplasia, Schmid Type

MCDS

Schmid Metaphyseal Chondrodysplasia

Metaphyseal Chondrodysplasia Schmid Type

Spondylometaphyseal Dysplasia, Japanese Type

Japanese Type Spondylometaphyseal Dysplasia

Schmid Type Metaphyseal Dysplasia

Metaphyseal Chondrodysplasia Type Schmid

Schmid Type Metaphyseal Chondrodysplasia

SMCD

Chondrodysplasia, Metaphyseal, Schmid Type

Corneal Dystrophy, Subepithelial Mucinous

Thrombocytopenia-Absent Radius Syndrome

Tar Syndrome

Radial Aplasia-Thrombocytopenia Syndrome

Absent Radii And Thrombocytopenia

TAR

Chromosome 1q21.1 Deletion Syndrome, 200-Kb

Thrombocytopenia Absent Radius Syndrome

Thrombocytopenia Absent Radii

Chromosome 1q21.1 Deletion Syndrome

Thrombocytopenia With Absent Radii Syndrome

Radial Aplasia-Amegakaryocytic Thrombocytopenia

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
Bos taurus UPF2 VGNC VGNC:36681
Mus musculus UPF2 MGD MGI:2449307
Rattus norvegicus UPF2 RGD RGD:1309178
Canis familiaris UPF2 VGNC VGNC:48151
Macaca mulatta UPF2 VGNC VGNC:106115