MPP2 - MAGUK p55 scaffold protein 2 Gene

中文名称：MAGUK p55 支架蛋白 2

种属: Homo sapiens

同用名: DLG2

基因 ID: 4355 | 基因类型: protein coding

关于 MPP2

Cytogenetic location: 17q21.31 Genomic coordinates (GRCh38): 17:43,875,360-43,909,711 (from NCBI)

This gene has 20 transcripts (splice variants), 273 orthologues and 7 paralogues. Biased expression in brain (RPKM 9.3), testis (RPKM 5.8) and 12 other tissues.

功能概要

棕榈酰化膜蛋白 2 是称为 MAGUK (膜相关鸟苷酸激酶同系物) 的膜相关蛋白家族的成员。 MAGUK 与细胞骨架相互作用并调节细胞增殖、信号通路和细胞内连接。棕榈酰化膜蛋白 2 包含一个保守序列，称为 SH3 (Src 同源性 3) 基序，在其他几种与细胞骨架相关的蛋白质中发现，并被怀疑在信号转导中发挥重要作用。[RefSeq 提供，2008 年 7 月]

Palmitoylated membrane protein 2 is a member of a family of membrane-associated proteins termed MAGUKs (membrane-associated guanylate kinase homologs). MAGUKs interact with the Cytoskeleton and regulate cell proliferation, signaling pathways, and intracellular junctions. Palmitoylated membrane protein 2 contains a conserved sequence, called the SH3 (Src homology 3) motif, found in several other proteins that associate with the Cytoskeleton and are suspected to play important roles in signal transduction. [provided by RefSeq, Jul 2008]

MPP2 基因产物(9)

mRNA	Protein	Name
NM_001278370.2	NP_001265299.1	MAGUK p55 subfamily member 2 isoform 1
NM_001278371.2	NP_001265300.1	MAGUK p55 subfamily member 2 isoform 2
NM_001278372.2	NP_001265301.1	MAGUK p55 subfamily member 2 isoform 4
NM_001278373.2	NP_001265302.1	MAGUK p55 subfamily member 2 isoform 2
NM_001278374.2	NP_001265303.1	MAGUK p55 subfamily member 2 isoform 6
NM_001278375.2	NP_001265304.1	MAGUK p55 subfamily member 2 isoform 2
NM_001278376.3	NP_001265305.2	MAGUK p55 subfamily member 2 isoform 8
NM_001278381.2	NP_001265310.1	MAGUK p55 subfamily member 2 isoform 3
NM_005374.5	NP_005365.4	MAGUK p55 subfamily member 2 isoform 3

基因本体论

分子功能
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	19665017	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in cytoskeleton	IDA IDA: 通过直接分析推断	19665017	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

MPP2 蛋白结构

L27

PDZ

SH3_2

Guanylate_kin

0
100
200
300
400
500
576 a.a.

蛋白主名

其他名称

MAGUK p55 subfamily member 2

discs large, homolog 2

关联疾病

疾病名称

别名

Danon Disease

Pseudoglycogenosis Ii	Antopol Disease
Glycogen Storage Disease Iib	Glycogen Storage Disease Type 2b
Glycogen Storage Disease Type Iib	Gsd2b
Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency	Vacuolar Cardiomyopathy And Myopathy X-Linked
Vacuolar Cardiomyopathy And Myopathy, X-Linked	Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency, Formerly
Gsd2b, Formerly	Gsd Iib, Formerly
Glycogen Storage Cardiomyopathy	Glycogen Storage Disease Limited To The Heart
Pseudoglycogenosis 2	X-Linked Vacuolar Cardiomyopathy And Myopathy
Lysosomal Glycogen Storage Disease With Normal Acid Maltase	Glycogen Storage Disease Due To Lamp-2 Deficiency
Gsd Due To Lamp-2 Deficiency	Glycogenosis Due To Lamp-2 Deficiency
Lysosomal Glycogen Storage Disease With Normal Acid Maltase Activity	DAND
Gsd-Iib

Tetanus

Lockjaw	Clostridial Tetanus
Infection Due To Clostridium Tetani	Lock-Jaw

Arrhythmogenic Right Ventricular Dysplasia, Familial, 13

Arrhythmogenic Right Ventricular Dysplasia 13	ARVD13
Arrhythmogenic Right Ventricular Cardiomyopathy 13	Arvc13
Familial Arrhythmogenic Right Ventricular Dysplasia 13	Dysplasia, Ventricular, Right, Arrhythmogenic, Familial, Type 13

Ehrlichiosis

Human Ehrlichiosis	He
Hey

Childhood Osteosarcoma

Pediatric Osteosarcoma

Myopathy

Muscular Diseases

Myopathies

Glycogen Storage Disease

Glycogenosis	Glycogenoses
Gsd	Storage Disease, Glycogen
Gsd - [Glycogen Storage Disease]	Glycogen Thesaurismosis
Diffuse Glycogenosis	Generalised Glycogen Storage Disease
Generalised Glycogenosis	Generalised Glycogen Storage Disease Of Infants
Glycogen Synthase Deficiency

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy	Cardiomyopathy, Hypertrophic
Cardiomyopathy Hypertrophic Obstructive	Cardiomyopathy, Hypertrophic, Familial
Idiopathic Myocardial Hypertrophy	Idiopathic Hypertrophic Cardiomyopathy
Obstructive Idiopathic Hypertrophic Cardiomyopathy	Obstructive Cardiomyopathy
Idiopathic Hypertrophic Subaortic Stenosis	Muscular Subaortic Stenosis
Hypertrophic Obstructive Subaortic Stenosis

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy	Primary Dilated Cardiomyopathy
Idiopathic Dilated Cardiomyopathy	Congestive Cardiomyopathy
Idiopathic Dilation Cardiomyopathy	Primary Familial Dilated Cardiomyopathy
Cardiomyopathy, Dilated	DCM
Cardiomyopathy, Familial Dilated	Dilated Cardiomyopathy, Familial
Hypokinetic Dilated Cardiomyopathy, Familial	Familial Idiopathic Cardiomyopathy
Fdc	Cardiomyopathy, Familial Idiopathic
Idiopathic Cardiomegaly	Dilated Congestive Cardiomyopathy
Chronic Dilated Cardiomyopathy	Ccm - [Congestive Cardiomyopathy]
Cocm - [Congestive Cardiomyopathy]	Dcm - [Dilated Cardiomyopathy]
Dilated-Hypokinetic Cardiomyopathy	Congestive Idiopathic Cardiomyopathy
Primary Idiopathic Dilated Cardiomyopathy

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS08623	MPP2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	MPP2	VGNC	VGNC:97514
Mus musculus	MPP2	MGD	MGI:1858257
Canis familiaris	MPP2	VGNC	VGNC:43343
Macaca mulatta	MPP2	VGNC	VGNC:99171
Rattus norvegicus	MPP2	RGD	RGD:620014
Bos taurus	MPP2	VGNC	VGNC:31583
Others	MPP2	NCBI

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