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

Also Known as AIP1; AIP-1; ARIP1; SSCAM; MAGI-2; NPHS15; ACVRIP1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9863

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables beta-1 adrenergic receptor binding	IPI IPI: Inferred from physical interaction	11526121	GOA
enables phosphatase binding	IPI IPI: Inferred from physical interaction	10760291	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9647693	GOA
enables signaling receptor complex adaptor activity	IDA IDA: Inferred from direct assay	11526121	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA IDA: Inferred from direct assay	10760291	GOA
involved in positive regulation of receptor internalization	IDA IDA: Inferred from direct assay	11526121	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in bicellular tight junction	IDA IDA: Inferred from direct assay	10760291	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	11526121	GOA
located in nucleus	IDA IDA: Inferred from direct assay	10760291	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	10760291	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MAGI2 Protein Structure

PDZ

Guanylate_kin

PDZ

0
300
600
900
1200
1455 a.a.

Protein Preferred Names	Protein Names
membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2	activin receptor interacting protein 1

MAGI2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	MAGI2	Q86UL8	ADRB1	Homo sapiens	P08588	Pull Down	11526121
Intra	MAGI2	Q86UL8	ADRB1	Homo sapiens	P08588	Far-WB	16533813
Intra	MAGI2	Q86UL8	ADRB1	Homo sapiens	P08588	Anti Tag CoIP	11526121
Intra	MAGI2	Q86UL8	ADRB1	Homo sapiens	P08588	Experimental Interac	11526121

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07982	MAGI2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22622	Magi2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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