1. Gene
  2. CHMP2A - charged multivesicular body protein 2A Gene

CHMP2A - charged multivesicular body protein 2A Gene

中文名称:带电多泡体蛋白 2A

种属: Homo sapiens

同用名: BC2; BC-2; VPS2; CHMP2; VPS2A

基因 ID: 27243 | 基因类型: protein coding

关于 CHMP2A

Cytogenetic location: 19q13.43 Genomic coordinates (GRCh38): 19:58,551,566-58,555,105 (from NCBI)

This gene has 11 transcripts (splice variants), 199 orthologues and 4 paralogues. Ubiquitous expression in colon (RPKM 34.2), kidney (RPKM 32.8) and 25 other tissues.

功能概要

CHMP2A 属于染色质修饰蛋白/带电多泡体蛋白 (CHMP) 家族。这些蛋白质是 ESCRT-III (运输 III 所需的内体分选复合物) 的组分,ESCRT-III 是一种参与表面受体蛋白降解和内吞多泡体 (MVB) 形成的复合物。一些 CHMP 具有细胞核和细胞质/囊泡分布,其中一种 CHMP,CHMP1A (MIM 164010) ,是 MVB 形成和细胞周期进程调节所必需的 (Tsang 等人,2006 [PubMed 16730941]) 。[OMIM,2008 年 3 月]

CHMP2A belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface Receptor Proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008]

CHMP2A 基因产物(2)

mRNA Protein Name
NM_014453.4 NP_055268.1 charged multivesicular body protein 2a
NM_198426.3 NP_940818.1 charged multivesicular body protein 2a
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 phosphatidylcholine binding IMP
IMP: 通过突变表型推断
18687924 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
14505570 GOA
enables protein domain specific binding IPI
IPI: 通过物理相互作用推断
17928862 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in autophagosome maturation IMP
IMP: 通过突变表型推断
17984323 GOA
involved in autophagy IMP
IMP: 通过突变表型推断
17984323 GOA
involved in establishment of protein localization IMP
IMP: 通过突变表型推断
23045692 GOA
involved in exit from mitosis IMP
IMP: 通过突变表型推断
26040712 GOA
involved in late endosome to lysosome transport IMP
IMP: 通过突变表型推断
17984323 GOA
involved in membrane invagination IMP
IMP: 通过突变表型推断
24878737 GOA
involved in midbody abscission IMP
IMP: 通过突变表型推断
20616062 GOA
involved in mitotic metaphase chromosome alignment IMP
IMP: 通过突变表型推断
20616062 GOA
involved in multivesicular body sorting pathway IDA
IDA: 通过直接分析推断
16554368 GOA
involved in negative regulation of centriole elongation IMP
IMP: 通过突变表型推断
20616062 GOA
involved in nuclear membrane reassembly IMP
IMP: 通过突变表型推断
26040712 GOA
involved in nucleus organization IMP
IMP: 通过突变表型推断
20616062 GOA
involved in plasma membrane repair IDA
IDA: 通过直接分析推断
24482116 GOA
involved in positive regulation of exosomal secretion IMP
IMP: 通过突变表型推断
22660413 GOA
involved in protein homooligomerization IMP
IMP: 通过突变表型推断
18687924 GOA
involved in protein polymerization IMP
IMP: 通过突变表型推断
23051622 GOA
involved in regulation of centrosome duplication IMP
IMP: 通过突变表型推断
20616062 GOA
involved in regulation of mitotic spindle assembly IMP
IMP: 通过突变表型推断
20616062 GOA
involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway IDA
IDA: 通过直接分析推断
17984323 GOA
involved in viral budding from plasma membrane IDA
IDA: 通过直接分析推断
24878737 GOA
involved in viral budding from plasma membrane IMP
IMP: 通过突变表型推断
14505570 GOA
involved in viral budding via host ESCRT complex IDA
IDA: 通过直接分析推断
24878737 GOA
involved in viral budding via host ESCRT complex IGI
IGI: 通过遗传相互作用推断
24107264 GOA
involved in viral budding via host ESCRT complex IMP
IMP: 通过突变表型推断
23051622 GOA
involved in viral release from host cell IGI
IGI: 通过遗传相互作用推断
23051622 GOA
involved in viral release from host cell IMP
IMP: 通过突变表型推断
23051622 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of ESCRT III complex IDA
IDA: 通过直接分析推断
18687924 GOA
located in amphisome membrane IDA
IDA: 通过直接分析推断
17984323 GOA
located in autophagosome membrane IDA
IDA: 通过直接分析推断
17984323 GOA
located in chromatin IDA
IDA: 通过直接分析推断
28242692 GOA
located in kinetochore IDA
IDA: 通过直接分析推断
26040712 GOA
located in kinetochore microtubule IDA
IDA: 通过直接分析推断
26040712 GOA
located in lysosomal membrane IDA
IDA: 通过直接分析推断
17984323 GOA
part of membrane coat IMP
IMP: 通过突变表型推断
24878737 GOA
located in midbody IDA
IDA: 通过直接分析推断
26040712 GOA
located in multivesicular body membrane IDA
IDA: 通过直接分析推断
16554368 GOA
located in nuclear envelope IDA
IDA: 通过直接分析推断
26040712 GOA
part of nuclear pore IDA
IDA: 通过直接分析推断
26040713 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
24878737 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

CHMP2A 蛋白结构

Snf7

Snf7: Snf7 (17 - 185)

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

charged multivesicular body protein 2a

VPS2 homolog A

CHMP2A 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 CHMP2A O43633 VPS4A Homo sapiens Q9UN37
Y2H
16730941
Intra CHMP2A O43633 CHMP3 Homo sapiens Q9Y3E7
Y2H
16730941
Intra CHMP2A O43633 CHMP3 Homo sapiens Q9Y3E7
SPR
23051622
Intra CHMP2A O43633 MITD1 Homo sapiens Q8WV92
Confocal
16730941
Intra CHMP2A O43633 MITD1 Homo sapiens Q8WV92
Y2H
16730941
Intra CHMP2A O43633 MITD1 Homo sapiens Q8WV92
Y2H Prey Pooling
32296183
Intra CHMP2A O43633 MITD1 Homo sapiens Q8WV92
Validated Y2H
32296183
Intra CHMP2A O43633 MITD1 Homo sapiens Q8WV92
Beta Lactamase
16730941
Intra CHMP2A O43633 MITD1 Homo sapiens Q8WV92
Y2H Array
32296183
Intra CHMP2A O43633 STAMBP Homo sapiens O95630
Y2H
16730941
Intra CHMP2A O43633 HTT Homo sapiens P42858
Validated Y2H
32814053
Intra CHMP2A O43633 HTT Homo sapiens P42858
Y2H Array
32814053
Intra CHMP2A O43633 HTT Homo sapiens P42858
Y2H Pooling
32814053
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
Breast Adenocarcinoma

Mammary Adenocarcinoma

Adenocarcinoma Of Breast

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7

Ftd3

Frontotemporal Dementia, Chromosome 3-Linked

Amyotrophic Lateral Sclerosis, Chmp2b-Related

Chromosome 3-Linked Frontotemporal Dementia

FTDALS7

Chmp2b-Related Frontotemporal Dementia

Amyotrophic Lateral Sclerosis 17, Formerly

Als17, Formerly

Amyotrophic Lateral Sclerosis Type 17

Dtm1

Ftd-3

Ftd-Chmp2b

Als17

Amyotrophic Lateral Sclerosis 17

Sclerosis, Lateral, Amyotrophic, Type 17

Dementia, Frontotemporal, Chromosome 3-Linked

Hypertrichosis Universalis Congenita, Ambras Type

Ambras Syndrome

Hypertrichosis, Congenital Generalized

HTC1

HTC2

Chromosome Xq27.1 Interchromosomal Insertion Syndrome

Cgh

Hcg

Ambras Type Hypertrichosis Universalis Congenita

X-Linked Congenital Generalized Hypertrichosis

Congenital Generalized Hypertrichosis, Macias-Flores Type

Macias Flores-Garcia Cruz-Rivera Syndrome

Htc 1

Hypertrichosis Universalis Congenita Ambras Type

Hypertrichosis Congenital Generalized X-Linked

Macias-Flores Garcia-Cruz Rivera Syndrome

Congenital Generalized Hypertrichosis, Ambras Type

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
Mus musculus CHMP2A MGD MGI:1916203
Canis familiaris CHMP2A VGNC VGNC:39222
Felis catus CHMP2A VGNC VGNC:60862
Rattus norvegicus CHMP2A RGD RGD:1305050
Bos taurus CHMP2A VGNC VGNC:27300
Macaca mulatta CHMP2A VGNC VGNC:71141