• Gene id: 9863

Gene Summary

• Gene Symbol: MAGI2   Gene   UCSC   Ensembl
• Aliases: ACVRIP1, AIP-1, AIP1, ARIP1, MAGI-2, NPHS15, SSCAM
• Gene name: membrane associated guanylate kinase, WW and PDZ domain containing 2
• Alternate names: membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2, activin receptor interacting protein 1, atrophin-1-interacting protein 1, atrophin-1-interacting protein A, membrane-associated guanylate kinase inverted 2,
• Gene location: 7q21.11 (79453666: 78017054)     Exons: 29     NC_000007.14
• Gene summary(Entrez): 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 ki

Protein Summary

• Protein general information: Q86UL8  
  • Name: Membrane associated guanylate kinase, WW and PDZ domain containing protein 2 (Atrophin 1 interacting protein 1) (AIP 1) (Atrophin 1 interacting protein A) (Membrane associated guanylate kinase inverted 2) (MAGI 2)
  • Length: 1455  
  • Mass: 158754
  • Tissue specificity: Specifically expressed in brain. {ECO
• Sequence:

  MSKSLKKKSHWTSKVHESVIGRNPEGQLGFELKGGAENGQFPYLGEVKPGKVAYESGSKLVSEELLLEVNETPVA
  GLTIRDVLAVIKHCKDPLRLKCVKQGGIVDKDLRHYLNLRFQKGSVDHELQQIIRDNLYLRTVPCTTRPHKEGEV
  PGVDYIFITVEDFMELEKSGALLESGTYEDNYYGTPKPPAEPAPLLLNVTDQILPGATPSAEGKRKRNKSVSNME
  KASIEPPEEEEEERPVVNGNGVVVTPESSEHEDKSAGASGEMPSQPYPAPVYSQPEELKEQMDDTKPTKPEDNEE
  PDPLPDNWEMAYTEKGEVYFIDHNTKTTSWLDPRLAKKAKPPEECKENELPYGWEKIDDPIYGTYYVDHINRRTQ
  FENPVLEAKRKLQQHNMPHTELGTKPLQAPGFREKPLFTRDASQLKGTFLSTTLKKSNMGFGFTIIGGDEPDEFL
  QVKSVIPDGPAAQDGKMETGDVIVYINEVCVLGHTHADVVKLFQSVPIGQSVNLVLCRGYPLPFDPEDPANSMVP
  PLAIMERPPPVMVNGRHNYETYLEYISRTSQSVPDITDRPPHSLHSMPTDGQLDGTYPPPVHDDNVSMASSGATQ
  AELMTLTIVKGAQGFGFTIADSPTGQRVKQILDIQGCPGLCEGDLIVEINQQNVQNLSHTEVVDILKDCPIGSET
  SLIIHRGGFFSPWKTPKPIMDRWENQGSPQTSLSAPAIPQNLPFPPALHRSSFPDSTEAFDPRKPDPYELYEKSR
  AIYESRQQVPPRTSFRMDSSGPDYKELDVHLRRMESGFGFRILGGDEPGQPILIGAVIAMGSADRDGRLHPGDEL
  VYVDGIPVAGKTHRYVIDLMHHAARNGQVNLTVRRKVLCGGEPCPENGRSPGSVSTHHSSPRSDYATYTNSNHAA
  PSSNASPPEGFASHSLQTSDVVIHRKENEGFGFVIISSLNRPESGSTITVPHKIGRIIDGSPADRCAKLKVGDRI
  LAVNGQSIINMPHADIVKLIKDAGLSVTLRIIPQEELNSPTSAPSSEKQSPMAQQSPLAQQSPLAQPSPATPNSP
  IAQPAPPQPLQLQGHENSYRSEVKARQDVKPDIRQPPFTDYRQPPLDYRQPPGGDYQQPPPLDYRQPPLLDYRQH
  SPDTRQYPLSDYRQPQDFDYFTVDMEKGAKGFGFSIRGGREYKMDLYVLRLAEDGPAIRNGRMRVGDQIIEINGE
  STRDMTHARAIELIKSGGRRVRLLLKRGTGQVPEYDEPAPWSSPAAAAPGLPEVGVSLDDGLAPFSPSHPAPPSD
  PSHQISPGPTWDIKREHDVRKPKELSACGQKKQRLGEQRERSASPQRAARPRLEEAPGGQGRPEAGRPASEARAP
  GLAAADAADAARAGGKEAPRAAAGSELCRREGPGAAPAFAGPGGGGSGALEAEGRAGARAGPRPGPRPPGGAPAR
  KAAVAPGPWKVPGSDKLPSVLKPGASAASR

• Structural information:
  • Protein Domains: (17..10-)
    (/note="PDZ-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143-)
    (109..28-)
    (/note="Guanylate-kinase-like)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00100-)
    (302..33-)
    (/note="WW-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:-)
  • Interpro: IPR008145  IPR008144  IPR020590  IPR030036  IPR027417   IPR001478  IPR041489  IPR036034  IPR001202  IPR036020  
  • Prosite: PS00856 PS50052 PS50106 PS01159 PS50020
  • CDD: cd00201
  • PDB: 1UEP 1UEQ 1UEW 1UJV 1WFV
  • PDBsum: 1UEP 1UEQ 1UEW 1UJV 1WFV
  • STRING: ENSP00000346151
• Other Databases: GeneCards:  MAGI2  Malacards:  MAGI2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0031697	beta-1 adrenergic receptor binding	IBA	molecular function
GO:0043113	receptor clustering	IBA	biological process
GO:0046332	SMAD binding	IBA	molecular function
GO:0005911	cell-cell junction	IBA	cellular component
GO:0007165	signal transduction	IBA	biological process
GO:0030159	signaling receptor complex adaptor activity	IBA	molecular function
GO:0030425	dendrite	IBA	cellular component
GO:0070699	type II activin receptor binding	IBA	molecular function
GO:1990090	cellular response to nerve growth factor stimulus	ISS	biological process
GO:0032991	protein-containing complex	ISS	cellular component
GO:0030425	dendrite	ISS	cellular component
GO:0038180	nerve growth factor signaling pathway	ISS	biological process
GO:0010976	positive regulation of neuron projection development	ISS	biological process
GO:0005770	late endosome	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0007165	signal transduction	IEA	biological process
GO:0060090	molecular adaptor activity	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0007399	nervous system development	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0046332	SMAD binding	IEA	molecular function
GO:0070697	activin receptor binding	IEA	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0030425	dendrite	IEA	cellular component
GO:0032926	negative regulation of activin receptor signaling pathway	IEA	biological process
GO:0060395	SMAD protein signal transduction	IEA	biological process
GO:0070699	type II activin receptor binding	IEA	molecular function
GO:0097118	neuroligin clustering involved in postsynaptic membrane assembly	IEA	biological process
GO:2000809	positive regulation of synaptic vesicle clustering	IEA	biological process
GO:0043005	neuron projection	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005770	late endosome	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0051898	negative regulation of protein kinase B signaling	IDA	biological process
GO:0032516	positive regulation of phosphoprotein phosphatase activity	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0002092	positive regulation of receptor internalization	IDA	biological process
GO:0005923	bicellular tight junction	IDA	cellular component
GO:0030159	signaling receptor complex adaptor activity	IDA	molecular function
GO:0071850	mitotic cell cycle arrest	ISS	biological process
GO:0045202	synapse	ISS	cellular component
GO:0031697	beta-1 adrenergic receptor binding	IPI	molecular function
GO:0070699	type II activin receptor binding	ISS	molecular function
GO:0030336	negative regulation of cell migration	ISS	biological process
GO:0003402	planar cell polarity pathway involved in axis elongation	NAS	biological process
GO:0046332	SMAD binding	ISS	molecular function
GO:0043113	receptor clustering	ISS	biological process
GO:0019902	phosphatase binding	IPI	molecular function
GO:0014069	postsynaptic density	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0072015	glomerular visceral epithelial cell development	ISS	biological process
GO:0060395	SMAD protein signal transduction	ISS	biological process
GO:0048471	perinuclear region of cytoplasm	ISS	cellular component
GO:0036057	slit diaphragm	ISS	cellular component
GO:0032926	negative regulation of activin receptor signaling pathway	ISS	biological process
GO:0008285	negative regulation of cell population proliferation	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04151	PI3K-Akt signaling pathway
hsa04015	Rap1 signaling pathway

Diseases

Associated diseases	References
Nephrotic syndrome	KEGG:H01657
Nephrotic syndrome	KEGG:H01657
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray