Entity Details

Primary name MAGI2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ86UL8
EntryNameMAGI2_HUMAN
FullNameMembrane-associated guanylate kinase, WW and PDZ domain-containing protein 2
TaxID9606
Evidenceevidence at protein level
Length1455
SequenceStatuscomplete
DateCreated2003-10-03
DateModified2021-06-02

Ontological Relatives

GenesMAGI2

GO terms

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GOName
GO:0002092 positive regulation of receptor internalization
GO:0003402 planar cell polarity pathway involved in axis elongation
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005770 late endosome
GO:0005886 plasma membrane
GO:0005911 cell-cell junction
GO:0005923 bicellular tight junction
GO:0007165 signal transduction
GO:0007399 nervous system development
GO:0008285 negative regulation of cell population proliferation
GO:0010976 positive regulation of neuron projection development
GO:0014069 postsynaptic density
GO:0019902 phosphatase binding
GO:0030159 signaling receptor complex adaptor activity
GO:0030336 negative regulation of cell migration
GO:0030425 dendrite
GO:0031697 beta-1 adrenergic receptor binding
GO:0032516 positive regulation of phosphoprotein phosphatase activity
GO:0032926 negative regulation of activin receptor signaling pathway
GO:0032991 protein-containing complex
GO:0036057 slit diaphragm
GO:0038180 nerve growth factor signaling pathway
GO:0043113 receptor clustering
GO:0045202 synapse
GO:0046332 SMAD binding
GO:0048471 perinuclear region of cytoplasm
GO:0051898 negative regulation of protein kinase B signaling
GO:0060395 SMAD protein signal transduction
GO:0070699 type II activin receptor binding
GO:0072015 glomerular visceral epithelial cell development
GO:1990090 cellular response to nerve growth factor stimulus

Subcellular Location

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Subcellular Location
Cell junction
Cell membrane
Cytoplasm
Late endosome

Domains

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DomainNameCategoryType
IPR001202 WW domainDomainDomain
IPR001478 PDZ domainDomainDomain
IPR008144 Guanylate kinase-like domainDomainDomain
IPR008145 Guanylate kinase/L-type calcium channel beta subunitDomainDomain
IPR020590 Guanylate kinase, conserved siteSiteConserved site
IPR027417 P-loop containing nucleoside triphosphate hydrolaseFamilyHomologous superfamily
IPR030036 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2FamilyFamily
IPR036020 WW domain superfamilyFamilyHomologous superfamily
IPR036034 PDZ superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
617609 OMIMNephrotic syndrome 15 (NPHS15)A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. NPHS15 is an autosomal recessive form with onset in the first months of life. Disease severity is variable. Some patients show rapid progression to end-stage renal failure. The disease is caused by variants affecting the gene represented in this entry.

Interactions

31 interactions

InteractorPartnerSourcesPublicationsLink
MAGI2_HUMANDSCL1_HUMANBioGRID, HPRD, IntAct12421765 details
MAGI2_HUMANPLXB3_HUMANBioGRID, HPRD, IntAct12421765 details
MAGI2_HUMANRPGF2_HUMANHPRD, MINT10548487 details
MAGI2_HUMANADRB1_HUMANBioGRID, HPRD, IntAct, MINT11526121 16316992 16533813 details
MAGI2_HUMANTGFA_HUMANHPRD, MINT15652357 details
MAGI2_HUMANARRD3_HUMANBioGRID, IntAct23236378 details
MAGI2_HUMANPDZ11_HUMANBioGRID, IntAct32296183 details
MAGI2_HUMANDLGP2_HUMANIntAct32296183 details
MAGI2_HUMANDLGP3_HUMANBioGRID, IntAct32296183 details
MAGI2_HUMANPKHF2_HUMANBioGRID, IntAct32296183 details
MAGI2_HUMANRSMB_HUMANBioGRID, IntAct32296183 details
MAGI2_HUMANMORN4_HUMANBioGRID, IntAct32296183 details
MAGI2_HUMANATN1_HUMANBioGRID, HPRD9647693 details
MAGI2_HUMANAVR2A_HUMANBioGRID, HPRD10681527 15451561 details
MAGI2_HUMANAGRB1_HUMANBioGRID23782696 details
MAGI2_HUMANPTEN_HUMANBioGRID, HPRD10760291 11707428 details
MAGI2_HUMANKS6A1_HUMANBioGRID30726710 details
MAGI2_HUMANCRFR1_HUMANBioGRID23576434 details
MAGI2_HUMANDLGP1_HUMANBioGRID32296183 details
MAGI2_HUMANTMG4_HUMANBioGRID23873930 details
MAGI2_HUMANGRID2_HUMANHPRD12589829 details
MAGI2_HUMANMAGI2_HUMANHPRD10681527 10760291 details
MAGI2_HUMANDLL1_HUMANHPRD14529612 details
MAGI2_HUMANAMOL1_HUMANIntAct17353931 details
MAGI2_HUMANRPB1_HUMANIntAct17353931 details
MAGI2_HUMANRPB2_HUMANIntAct17353931 details
MAGI2_HUMANEPHA4_HUMANIntAct31413325 details
MAGI2_HUMANCTNB1_HUMANBioGRID, HPRD11526121 11826105 details
MAGI2_HUMANERBB4_HUMANBioGRID17579610 details
MAGI2_HUMANSMAD3_HUMANHPRD10681527 details
MAGI2_HUMANCTND2_HUMANHPRD10080919 details