ENSG00000187391


Homo sapiens

Features
Gene ID: ENSG00000187391
  
Biological name :MAGI2
  
Synonyms : MAGI2 / membrane associated guanylate kinase, WW and PDZ domain containing 2 / Q86UL8
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 7
Strand: -1
Band: q21.11
Gene start: 78017057
Gene end: 79453574
  
Corresponding Affymetrix probe sets: 207702_s_at (Human Genome U133 Plus 2.0 Array)   209737_at (Human Genome U133 Plus 2.0 Array)   237786_at (Human Genome U133 Plus 2.0 Array)   240186_at (Human Genome U133 Plus 2.0 Array)   1441488_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000405766
Ensembl peptide - ENSP00000346151
Ensembl peptide - ENSP00000428389
Ensembl peptide - ENSP00000490637
Ensembl peptide - ENSP00000490629
Ensembl peptide - ENSP00000490259
Ensembl peptide - ENSP00000490128
Ensembl peptide - ENSP00000490080
Ensembl peptide - ENSP00000489709
Ensembl peptide - ENSP00000489633
Ensembl peptide - ENSP00000489533
Ensembl peptide - ENSP00000487526
Ensembl peptide - ENSP00000487448
Ensembl peptide - ENSP00000487435
Ensembl peptide - ENSP00000487001
Ensembl peptide - ENSP00000486774
Ensembl peptide - ENSP00000486379
Ensembl peptide - ENSP00000486154
Ensembl peptide - ENSP00000486131
Ensembl peptide - ENSP00000485970
Ensembl peptide - ENSP00000441603
NCBI entrez gene - 9863     See in Manteia.
OMIM - 606382
RefSeq - XM_017012852
RefSeq - NM_001301128
RefSeq - NM_012301
RefSeq - XM_011516718
RefSeq - XM_011516719
RefSeq - XM_011516720
RefSeq - XM_011516726
RefSeq - XM_011516728
RefSeq - XM_017012840
RefSeq - XM_017012841
RefSeq - XM_017012842
RefSeq - XM_017012843
RefSeq - XM_017012844
RefSeq - XM_017012845
RefSeq - XM_017012846
RefSeq - XM_017012847
RefSeq - XM_017012848
RefSeq - XM_017012849
RefSeq - XM_017012850
RefSeq - XM_017012851
RefSeq Peptide - NP_036433
RefSeq Peptide - NP_001288057
swissprot - A0A1B0GVS6
swissprot - A0A1B0GVS0
swissprot - A0A1B0GUV4
swissprot - A0A1B0GUI9
swissprot - A0A1B0GUF0
swissprot - A0A1B0GTH8
swissprot - A0A1B0GTC0
swissprot - A0A0U1RRH4
swissprot - A0A0E3D6M1
swissprot - A0A0D9SGI1
swissprot - A0A0D9SGF8
swissprot - A0A0D9SGF2
swissprot - A0A0D9SFY9
swissprot - A0A0D9SFP3
swissprot - A0A0D9SF86
swissprot - A0A0D9SEZ7
swissprot - A0A0D9SEY4
swissprot - A0A0D9SET0
swissprot - Q86UL8
swissprot - E7EWI0
Ensembl - ENSG00000187391
  
Related genetic diseases (OMIM): 617609 - Nephrotic syndrome 15, 617609
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 magi2aENSDARG00000021590Danio rerio
 magi2bENSDARG00000073769Danio rerio
 ENSGALG00000008353Gallus gallus
 ENSGALG00000038834Gallus gallus
 Magi2ENSMUSG00000040003Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
MAGI3 / Q5TCQ9 / membrane associated guanylate kinase, WW and PDZ domain containing 3ENSG0000008102646
MAGI1 / Q96QZ7 / membrane associated guanylate kinase, WW and PDZ domain containing 1ENSG0000015127644
MAGIX / MAGI family member, X-linkedENSG000002693137
SAV1 / Q9H4B6 / salvador family WW domain containing protein 1ENSG000001517486


Protein motifs (from Interpro)
Interpro ID Name
 IPR001202  WW domain
 IPR001478  PDZ domain
 IPR008144  Guanylate kinase-like domain
 IPR008145  Guanylate kinase/L-type calcium channel beta subunit
 IPR020590  Guanylate kinase, conserved site
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR030036  Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2
 IPR036020  WW domain superfamily
 IPR036034  PDZ superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002092 positive regulation of receptor internalization IDA
 biological_processGO:0003402 planar cell polarity pathway involved in axis elongation NAS
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0007399 nervous system development IEA
 biological_processGO:0008285 negative regulation of cell proliferation ISS
 biological_processGO:0010976 positive regulation of neuron projection development ISS
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0030336 negative regulation of cell migration ISS
 biological_processGO:0032516 positive regulation of phosphoprotein phosphatase activity IDA
 biological_processGO:0032926 negative regulation of activin receptor signaling pathway ISS
 biological_processGO:0038180 nerve growth factor signaling pathway ISS
 biological_processGO:0043113 receptor clustering ISS
 biological_processGO:0051291 protein heterooligomerization ISS
 biological_processGO:0051898 negative regulation of protein kinase B signaling IDA
 biological_processGO:0060395 SMAD protein signal transduction ISS
 biological_processGO:0071850 mitotic cell cycle arrest ISS
 biological_processGO:0072015 glomerular visceral epithelial cell development ISS
 biological_processGO:0097118 neuroligin clustering involved in postsynaptic membrane assembly IEA
 biological_processGO:1990090 cellular response to nerve growth factor stimulus ISS
 biological_processGO:2000809 positive regulation of synaptic vesicle clustering IEA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005770 late endosome ISS
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005923 bicellular tight junction IEA
 cellular_componentGO:0014069 postsynaptic density ISS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030425 dendrite ISS
 cellular_componentGO:0032991 protein-containing complex ISS
 cellular_componentGO:0036057 slit diaphragm ISS
 cellular_componentGO:0043005 neuron projection IEA
 cellular_componentGO:0045202 synapse ISS
 cellular_componentGO:0048471 perinuclear region of cytoplasm ISS
 molecular_functionGO:0004871 obsolete signal transducer activity IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0019902 phosphatase binding IPI
 molecular_functionGO:0030159 receptor signaling complex scaffold activity IDA
 molecular_functionGO:0031697 beta-1 adrenergic receptor binding IPI
 molecular_functionGO:0032947 protein-containing complex scaffold activity IEA
 molecular_functionGO:0046332 SMAD binding ISS
 molecular_functionGO:0070699 type II activin receptor binding ISS


Pathways (from Reactome)
Pathway description
Nephrin family interactions


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000161270 NPHS1 / O60500 / NPHS1, nephrin  / reaction / complex
 ENSG00000183853 Q96J84 / KIRREL1 / kirre like nephrin family adhesion molecule 1  / complex / reaction






 

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