1. Gene
  2. MAGI2 - membrane associated guanylate kinase, WW and PDZ domain containing 2 Gene

MAGI2 - membrane associated guanylate kinase, WW and PDZ domain containing 2 Gene

中文名称:含膜相关鸟苷酸激酶,WW 和 PDZ 结构域 2

种属: Homo sapiens

同用名: AIP1; AIP-1; ARIP1; SSCAM; MAGI-2; NPHS15; ACVRIP1

基因 ID: 9863 | 基因类型: protein coding

关于 MAGI2

Cytogenetic location: 7q21.11 Genomic coordinates (GRCh38): 7:78,017,055-79,453,667 (from NCBI)

This gene has 43 transcripts (splice variants), 212 orthologues, 6 paralogues and is associated with 3 phenotypes. Broad expression in brain (RPKM 4.1), thyroid (RPKM 1.2) and 16 other tissues.

功能概要

该基因编码的蛋白质与 atrophin-1 相互作用。 Atrophin-1 包含一个多聚谷氨酰胺重复序列,其扩展是造成齿状核和苍白球萎缩的原因。这种编码的蛋白质的特征在于两个 WW 结构域、一个鸟苷酸激酶样结构域和多个 PDZ 结构域。它与膜相关鸟苷酸激酶同系物 (MAGUK) 家族具有结构相似性。[RefSeq 提供,2008 年 7 月]

The protein encoded by this gene interacts with atrophin-1. Atrophin-1 contains a polyglutamine repeat, expansion of which is responsible for dentatorubral and pallidoluysian atrophy. This encoded protein is characterized by two WW domains, a guanylate kinase-like domain, and multiple PDZ domains. It has structural similarity to the membrane-associated guanylate kinase homologue (MAGUK) family. [provided by RefSeq, Jul 2008]

MAGI2 基因产物(2)

mRNA Protein Name
NM_001301128.2 NP_001288057.1 membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 isoform 2
NM_012301.4 NP_036433.2 membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 isoform 1
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 beta-1 adrenergic receptor binding IPI
IPI: 通过物理相互作用推断
11526121 GOA
enables phosphatase binding IPI
IPI: 通过物理相互作用推断
10760291 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
9647693 GOA
enables signaling receptor complex adaptor activity IDA
IDA: 通过直接分析推断
11526121 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IDA
IDA: 通过直接分析推断
10760291 GOA
involved in positive regulation of receptor internalization IDA
IDA: 通过直接分析推断
11526121 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in bicellular tight junction IDA
IDA: 通过直接分析推断
10760291 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
11526121 GOA
located in nucleus IDA
IDA: 通过直接分析推断
10760291 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
10760291 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

MAGI2 蛋白结构

PDZ

PDZ: PDZ domain (Also known as DHR or GLGF) (22 - 96)

Guanylate_kin

Guanylate_kin: Guanylate kinase (136 - 187)

WW

WW: WW domain (304 - 333)

WW

WW: WW domain (350 - 379)

PDZ

PDZ: PDZ domain (Also known as DHR or GLGF) (427 - 495)

PDZ

PDZ: PDZ domain (Also known as DHR or GLGF) (611 - 669)

PDZ

PDZ: PDZ domain (Also known as DHR or GLGF) (781 - 858)

PDZ

PDZ: PDZ domain (Also known as DHR or GLGF) (921 - 1006)

PDZ

PDZ: PDZ domain (Also known as DHR or GLGF) (1148 - 1225)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1455 a.a.
蛋白主名 其他名称

membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2

activin receptor interacting protein 1

MAGI2 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
种属内
MAGI2 Q86UL8 ADRB1 Homo sapiens P08588 11526121
种属内
MAGI2 Q86UL8 ADRB1 Homo sapiens P08588 16533813
种属内
MAGI2 Q86UL8 ADRB1 Homo sapiens P08588 11526121
种属内
MAGI2 Q86UL8 ADRB1 Homo sapiens P08588 11526121
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
Nephrotic Syndrome, Type 15

Nephrotic Syndrome 15

NPHS15

Nephrotic Syndrome Type 15

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

Eccrine Papillary Adenocarcinoma

Digital Papillary Adenocarcinoma

Sweat Gland Adenocarcinoma

Digital Papillary Eccrine Carcinoma Of Skin

Eccrine Adenocarcinoma
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

Cri-Du-Chat Syndrome

5p Deletion Syndrome

5p Partial Monosomy Syndrome

Monosomy 5p

Cat Cry Syndrome

Chromosome 5p Deletion Syndrome

Cri Du Chat Syndrome

5p- Syndrome

5p Minus Syndrome

Chromosome 5p- Syndrome

Chromosome 5 Short Arm Deletion Syndrome

Chromosome 5p Deletion

Deletion 5p

Cri Du Chat

5p Partial Deletion Syndrome

Partial Deletion Of Short Arm Of Chromosome 5 Syndrome

Cowden Syndrome 1

Bannayan-Riley-Ruvalcaba Syndrome

Pten Hamartoma Tumor Syndrome

Lhermitte-Duclos Disease

Bannayan-Zonana Syndrome

Phts

Riley-Smith Syndrome

Bzs

Ruvalcaba-Myhre-Smith Syndrome

Multiple Hamartoma Syndrome

Rmss

Brrs

Dysplastic Gangliocytoma Of The Cerebellum

CWS1

Cs

Cd

Mham

Pten Hamartoma Tumor Syndrome With Granular Cell Tumor

Macrocephaly Multiple Lipomas And Hemangiomata

Bannayan-Ruvalcaba-Riley Syndrome

Myhre-Riley-Smith Syndrome

LDD

Cerebelloparenchymal Disorder Vi

Hamartoma Syndrome, Multiple

Bbrs

Macrocephaly, Pseudopapilledema, And Multiple Hemangiomata

Macrocephaly, Multiple Lipomas, And Hemangiomata

Macrocephaly Pseudopapilledema And Multiple Hemangiomas

Ruvalcaba -Myhre-Smith Syndrome

Ruvalcaba-Myhre Syndrome

Cowden Disease

Macrocephaly Pseudopapilledema And Multiple Hemangiomata

Cerebellar Granule Cell Hypertrophy And Megalencephaly

Cpd6

Pten Hamartoma Tumor Syndromes

Cowden Syndrome, Type 1

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

West Syndrome

Infantile Spasms

Infantile Spasms Syndrome

Infantile Spasm

X-Linked Infantile Spasm Syndrome

X-Linked Infantile Spasms

Epileptic Encephalopathy, Early Infantile, 1

Is

Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg

West'S Syndrome

Spasms, Infantile

Is -[Infantile Spasm]

Salaam Spasm

Salaam Tic

Williams-Beuren Syndrome

Williams Syndrome

WBS

Wms

Deletion 7q11.23

Monosomy 7q11.23

Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb

Fanconi Schlesinger Syndrome

Beuren Syndrome

Elfin Facies Syndrome

Elfin Facies With Hypercalcemia

Hypercalcemia-Supravalvar Aortic Stenosis

Ws

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
Felis catus MAGI2 VGNC VGNC:80620
Macaca mulatta MAGI2 VGNC VGNC:74312
Mus musculus MAGI2 MGD MGI:1354953
Rattus norvegicus MAGI2 RGD RGD:621855
Canis familiaris MAGI2 VGNC VGNC:42928