2. Gene
  3. EMP2 - epithelial membrane protein 2 Gene

EMP2 - epithelial membrane protein 2 Gene

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

中文名称：上皮膜蛋白 2

种属: Homo sapiens

同用名: XMP

基因 ID: 2013 | 基因类型: protein coding

关于 EMP2

Cytogenetic location: 16p13.13 Genomic coordinates (GRCh38): 16:10,528,422-10,580,598 (from NCBI)

This gene has 3 transcripts (splice variants), 190 orthologues, 10 paralogues and is associated with 2 phenotypes. Biased expression in lung (RPKM 155.3), skin (RPKM 53.3) and 9 other tissues.

功能概要

该基因编码 PMP22/EMP 家族的四跨蛋白。编码的蛋白质调节细胞膜组成。它与多种功能相关，包括内吞作用、细胞信号传导、细胞增殖、细胞迁移、细胞粘附、细胞死亡、胆固醇稳态、尿白蛋白排泄和胚胎植入。已知负调节 caveolin-1，一种脚手架蛋白，是大多数细胞类型中发现的 caveolae 质膜内陷的主要成分。通过激活 PTK2，它正向调节血管内皮生长因子 A。它还调节质膜中特定整合素异构体的功能。该基因的上调与多种不同组织中的癌症进展有关。该基因的突变与 10 型肾病综合征 (NPHS10) 有关。[RefSeq 提供，2015 年 3 月]

This gene encodes a tetraspan protein of the PMP22/EMP family. The encoded protein regulates cell membrane composition. It has been associated with various functions including endocytosis, cell signaling, cell proliferation, cell migration, cell adhesion, cell death, Cholesterol homeostasis, urinary albumin excretion, and embryo implantation. It is known to negatively regulate caveolin-1, a scaffolding protein which is the main component of the caveolae plasma membrane invaginations found in most cell types. Through activation of PTK2 it positively regulates vascular endothelial growth factor A. It also modulates the function of specific Integrin isomers in the plasma membrane. Up-regulation of this gene has been linked to Cancer progression in multiple different tissues. Mutations in this gene have been associated with nephrotic syndrome type 10 (NPHS10). [provided by RefSeq, Mar 2015]

EMP2 基因产物(1)

mRNA Protein Name
NM_001424.6 NP_001415.1 epithelial membrane protein 2 precursor
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 integrin binding IPI
IPI: 通过物理相互作用推断
16216233 GOA
enables kinase binding IPI
IPI: 通过物理相互作用推断
19494199 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
12107182 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in actin filament organization IDA
IDA: 通过直接分析推断
19494199 GOA
involved in actin-mediated cell contraction IDA
IDA: 通过直接分析推断
18469192 GOA
involved in apoptotic process IDA
IDA: 通过直接分析推断
12107182 GOA
involved in bleb assembly IDA
IDA: 通过直接分析推断
12107182 GOA
involved in blood vessel endothelial cell migration IDA
IDA: 通过直接分析推断
23439602 GOA
involved in cell adhesion IDA
IDA: 通过直接分析推断
19494199 GOA
involved in cell-matrix adhesion IDA
IDA: 通过直接分析推断
19494199 GOA
involved in embryo implantation IMP
IMP: 通过突变表型推断
16487956 GOA
involved in positive regulation of cell population proliferation IMP
IMP: 通过突变表型推断
24814193 GOA
acts upstream of or within positive regulation of cell-matrix adhesion IDA
IDA: 通过直接分析推断
16216233 GOA
acts upstream of or within positive regulation of integrin-mediated signaling pathway IDA
IDA: 通过直接分析推断
16216233 GOA
involved in protein localization to cell surface IMP
IMP: 通过突变表型推断
16216233 GOA
involved in regulation of angiogenesis IDA
IDA: 通过直接分析推断
23334331 GOA
involved in regulation of angiogenesis IMP
IMP: 通过突变表型推断
23439602 GOA
involved in regulation of endothelial cell migration IDA
IDA: 通过直接分析推断
23334331 GOA
involved in regulation of glomerular filtration IDA
IDA: 通过直接分析推断
24814193 GOA
involved in regulation of kinase activity IDA
IDA: 通过直接分析推断
18469192 GOA
involved in regulation of vasculogenesis IDA
IDA: 通过直接分析推断
23334331 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi apparatus IDA
IDA: 通过直接分析推断
18400107 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
12107182 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

EMP2 蛋白结构

PMP22_Claudin

PMP22_Claudin: PMP-22/EMP/MP20/Claudin family (1 - 160)

  • 0
  • 100
  • 167 a.a.
蛋白主名 其他名称

epithelial membrane protein 2

关联疾病

疾病名称 别名
Nephrotic Syndrome, Type 10

NPHS10

Nephrotic Syndrome Type 10

Idiopathic Steroid-Sensitive Nephrotic Syndrome

Nephrotic Syndrome 10
Genetic Steroid-Resistant Nephrotic Syndrome

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

Genetic Srns

Hereditary Steroid-Resistant Nephrotic Syndrome

Familial Idiopathic Nephrotic Syndrome

Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive

Srn1
Nephrotic Syndrome

Finnish Congenital Nephrotic Syndrome

Ns - [Nephrotic Syndrome]

Nephrosis Syndrome

Nephrosis Nos

Glomerular Lesion Nephrosis
Pyosalpinx

Pyosalpingitis
Focal Segmental Glomerulosclerosis 9

FSGS9

Glomerulosclerosis, Focal Segmental, 9

Glomerulosclerosis, Focal Segmental, Type 9
Focal Segmental Glomerulosclerosis 8

FSGS8

Glomerulosclerosis, Focal Segmental, 8

Glomerulosclerosis, Focal Segmental, Type 8
Diamond-Blackfan Anemia 10

DBA10

Rps26-Related Diamond-Blackfan Anemia

Anemia, Diamond-Blackfan, Type 10
Adenoid Squamous Cell Carcinoma

Acantholytic Squamous Cell Carcinoma

Adenocarcinoma With Squamous Metaplasia

Adenoacanthoma

Pseudoglandular Squamous Carcinoma
Focal Segmental Glomerulosclerosis

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

Focal Glomerulosclerosis

Fsgs

Segmental Glomerulosclerosis

Glomerulosclerosis, Focal Segmental

Fgs

Focal Glomerular Sclerosis

Familial Idiopathic Nephrotic Syndrome

Focal Sclerosis With Hyalinosis

Glomerulosclerosis, Focal

Glomerulosclerosis Focal

Glomerulosclerosis, Segmental, Focal

Focal Segmental Glomerulosclerosis, Not Otherwise Specified
Charcot-Marie-Tooth Disease

Cmt

Hmsn

Hereditary Motor And Sensory Neuropathy

Pma

Cmt - Charcot-Marie-Tooth Disease

Charcot Marie Tooth Disease

Charcot-Marie-Tooth Hereditary Neuropathy

Charcot-Marie-Tooth Syndrome

Peroneal Muscular Atrophy

Hereditary Motor And Sensory Neuropathies
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-RS04360 EMP2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus EMP2 VGNC VGNC:28482
Macaca mulatta EMP2 VGNC VGNC:104725
Rattus norvegicus EMP2 RGD RGD:1359629
Canis familiaris EMP2 VGNC VGNC:40353
Felis catus EMP2 VGNC VGNC:61853
Mus musculus EMP2 MGD MGI:1098726
Others EMP2 NCBI
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