ENSMUSG00000040003


Mus musculus

Features
Gene ID: ENSMUSG00000040003
  
Biological name :Magi2
  
Synonyms : Magi2 / Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 / Q9WVQ1
  
Possible biological names infered from orthology : membrane associated guanylate kinase, WW and PDZ domain containing 2 / Q86UL8
  
Species: Mus musculus
  
Chr. number: 5
Strand: 1
Band: A3
Gene start: 19227036
Gene end: 20704792
  
Corresponding Affymetrix probe sets: 10519913 (MoGene1.0st)   1420532_at (Mouse Genome 430 2.0 Array)   1454855_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000142581
Ensembl peptide - ENSMUSP00000142576
Ensembl peptide - ENSMUSP00000142764
Ensembl peptide - ENSMUSP00000146769
Ensembl peptide - ENSMUSP00000146458
Ensembl peptide - ENSMUSP00000146348
Ensembl peptide - ENSMUSP00000143578
Ensembl peptide - ENSMUSP00000085872
Ensembl peptide - ENSMUSP00000099094
Ensembl peptide - ENSMUSP00000110922
NCBI entrez gene - 50791     See in Manteia.
MGI - MGI:1354953
RefSeq - XM_017320969
RefSeq - XM_006535745
RefSeq - XM_006535746
RefSeq - XM_006535747
RefSeq - XM_006535748
RefSeq - XM_006535749
RefSeq - XM_006535750
RefSeq - XM_006535751
RefSeq - XM_006535752
RefSeq - XM_011249777
RefSeq - XM_017320968
RefSeq - NM_001170745
RefSeq - NM_001170746
RefSeq - NM_015823
RefSeq - XM_006535743
RefSeq - XM_006535744
RefSeq Peptide - NP_001164217
RefSeq Peptide - NP_056638
RefSeq Peptide - NP_001164216
swissprot - A0A0G2JEG6
swissprot - A0A0G2JE05
swissprot - A0A140LHL1
swissprot - Q9WVQ1
swissprot - A0A0G2JE00
swissprot - A0A140LHB5
swissprot - A0A0G2JGI5
Ensembl - ENSMUSG00000040003
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 magi2aENSDARG00000021590Danio rerio
 magi2bENSDARG00000073769Danio rerio
 ENSGALG00000008353Gallus gallus
 ENSGALG00000038834Gallus gallus
 MAGI2ENSG00000187391Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Magi1 / Q6RHR9 / Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 / Q96QZ7* / membrane associated guanylate kinase, WW and PDZ domain containing 1*ENSMUSG0000004509548
Magi3 / Q9EQJ9 / Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 3 / Q5TCQ9* / membrane associated guanylate kinase, WW and PDZ domain containing 3*ENSMUSG0000005253947
1 / Sav1 / Q8VEB2 / Q9H4B6* / salvador family WW domain containing protein 1*ENSMUSG000000210677
Magix / Q4KL35 / PDZ domain-containing protein MAGIX / MAGI family member, X-linked*ENSMUSG000000311477


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 ISS
 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:0030336 negative regulation of cell migration ISS
 biological_processGO:0032516 positive regulation of phosphoprotein phosphatase activity ISS
 biological_processGO:0032926 negative regulation of activin receptor signaling pathway IDA
 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 ISS
 biological_processGO:0060395 SMAD protein signal transduction IDA
 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 IDA
 biological_processGO:1990090 cellular response to nerve growth factor stimulus ISS
 biological_processGO:2000809 positive regulation of synaptic vesicle clustering IDA
 cellular_componentGO:0005634 nucleus ISO
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005770 late endosome ISS
 cellular_componentGO:0005886 plasma membrane ISO
 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 IDA
 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 IPI
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0019902 phosphatase binding ISS
 molecular_functionGO:0030159 receptor signaling complex scaffold activity ISO
 molecular_functionGO:0031697 beta-1 adrenergic receptor binding ISO
 molecular_functionGO:0032947 protein-containing complex scaffold activity IEA
 molecular_functionGO:0046332 SMAD binding IPI
 molecular_functionGO:0070699 type II activin receptor binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000523 cortical glomerulopathies "any disease of the capillary plexus in the kidney cortex" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:63229]
Show

Allelic Composition: Rb1tm2Brn/Rb1tm2Brn,Trp53tm1Brn/Trp53tm1Brn,Tg(Ren-cre)#Kwg/0
Genetic Background: involves: 129 * 129P2/OlaHsd

 MP:0001732 postnatal growth retardation "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Rb1tm2Brn/Rb1tm2Brn,Trp53tm1Brn/Trp53tm1Brn,Tg(Ren-cre)#Kwg/0
Genetic Background: involves: 129 * 129P2/OlaHsd

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Rb1tm2Brn/Rb1tm2Brn,Trp53tm1Brn/Trp53tm1Brn,Tg(Ren-cre)#Kwg/0
Genetic Background: involves: 129 * 129P2/OlaHsd

Allelic Composition: Magi2tm1Key/Magi2tm1Key
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Magi2tm1Key/Magi2tm1Key
Genetic Background: involves: 129S4/SvJae

 MP:0002871 albuminuria "presence of excess albumin in the urine" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Rb1tm2Brn/Rb1tm2Brn,Trp53tm1Brn/Trp53tm1Brn,Tg(Ren-cre)#Kwg/0
Genetic Background: involves: 129 * 129P2/OlaHsd

 MP:0002882 abnormal neuron "anomaly in the functional cells of the nervous system that receive, conduct, and transmit impulses " [MeSH:National Library of Medicine - Medical Subject Headings, 2003]
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Allelic Composition: Ncoa1tm1Bwo/Ncoa1tm1Bwo,Ncoa2tm1.1Ipc/Ncoa2tm1.1Ipc,Pgrtm2(cre)Lyd/Pgr+
Genetic Background: involves: 129/Sv * 129S1/Sv * 129S2/SvPas * 129X1/SvJ

 MP:0002962 increased protein excretion "greater than the normal amount of serum proteins voided by the kidneys" [RGD:Rat Genome Database submission]
Show

Allelic Composition: Rb1tm2Brn/Rb1tm2Brn,Trp53tm1Brn/Trp53tm1Brn,Tg(Ren-cre)#Kwg/0
Genetic Background: involves: 129 * 129P2/OlaHsd

Allelic Composition: Magi2tm1Key/Magi2tm1Key
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0003215 renal interstitial fibrosis "formation of fibrous tissue within the interstices of the kidney as a result of repair or a reactive process" [RGD:Rat Genome Database submission]
Show

Allelic Composition: Magi2tm1Key/Magi2tm1Key
Genetic Background: involves: 129S4/SvJae

 MP:0003606 kidney failure "cessation of renal function" [ncbi:Matthew Mailman, NCBI request]
Show

Allelic Composition: Magi2tm1Key/Magi2tm1Key
Genetic Background: involves: 129S4/SvJae

 MP:0003624 anuria "inability to form or excrete urine" [ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Ptentm2Mak/Ptentm2Mak,Tg(Eno2-cre)39Jme/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

 MP:0005264 glomerulosclerosis "hyaline deposits or scarring within the renal glomeruli, often occurring with renal arteriosclerosis or diabetes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Rb1tm2Brn/Rb1tm2Brn,Trp53tm1Brn/Trp53tm1Brn,Tg(Ren-cre)#Kwg/0
Genetic Background: involves: 129 * 129P2/OlaHsd

 MP:0005326 abnormal podocytes "anomalous structure of the foot processes of the epithelial cells of the glomerulus" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:57971]
Show

Allelic Composition: Rb1tm2Brn/Rb1tm2Brn,Trp53tm1Brn/Trp53tm1Brn,Tg(Ren-cre)#Kwg/0
Genetic Background: involves: 129 * 129P2/OlaHsd

 MP:0005553 increased circulating creatinine level "greater than the normal blood concentration of this product of creatine catabolism; abnormal levels indicative of renal dysfunction" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, RGD:Rat Genome Database submission]
Show

Allelic Composition: Ptentm2Mak/Ptentm2Mak,Tg(Eno2-cre)39Jme/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

Allelic Composition: Magi2tm1Key/Magi2tm1Key
Genetic Background: involves: 129S4/SvJae

Allelic Composition: Magi2tm1Key/Magi2tm1Key
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0005565 increased blood urea nitrogen level "high circulating concentration of nitrogen, in the form of urea; commonly used to measure renal function" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Rb1tm2Brn/Rb1tm2Brn,Trp53tm1Brn/Trp53tm1Brn,Tg(Ren-cre)#Kwg/0
Genetic Background: involves: 129 * 129P2/OlaHsd

Allelic Composition: Magi2tm1Key/Magi2tm1Key
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0008059 abnormal podocyte foot process morphology "any structural anomaly of the footlike extension of podocytes that interdigitate with one another to form the walls of the glomerular capillaries" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Ptentm2Mak/Ptentm2Mak,Tg(Eno2-cre)39Jme/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

 MP:0008060 abnormal podocyte slit diaphragm morphology "any structural anomaly of the thin membrane that covers the podocyte filtration slit which allows small molecules such as water, glucose, and ionic salts to pass through while retaining larger macromolecules in the bloodstream" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ptentm2Mak/Ptentm2Mak,Tg(Eno2-cre)39Jme/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

Allelic Composition: Magi2tm1Key/Magi2tm1Key
Genetic Background: involves: 129S4/SvJae

 MP:0008137 absent podocytes "absence of a modified epithelial cell of the visceral layer of the Bowman capsule in the renal corpuscle; it has a small perikaryon and a number of primary and secondary foot processes that interdigitate with those of other podocytes and are attached to the outer surface of the glomerular capillary basement membrane" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Magi2tm1Key/Magi2tm1Key
Genetic Background: involves: 129S4/SvJae

 MP:0008139 fused podocyte foot processes "coalescence of the footlike extension of podocytes that interdigitate with one another to form the walls of the glomerular capillaries " [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Ptentm2Mak/Ptentm2Mak,Tg(Eno2-cre)39Jme/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

 MP:0008140 podocyte foot process effacement "thinning of the footlike extension of podocytes that interdigitate with one another to form the walls of the glomerular capillaries" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Magi2tm1Key/Magi2tm1Key
Genetic Background: involves: 129S4/SvJae

 MP:0009378 abnormal endoplasmic reticulum morphology "any structural anomaly of irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells" [GO:0005783]
Show

Allelic Composition: Magi2tm1Key/Magi2tm1Key
Genetic Background: involves: 129S4/SvJae

 MP:0011085 complete postnatal lethality "premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Ptentm2Mak/Ptentm2Mak,Tg(Eno2-cre)39Jme/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

 MP:0011087 complete neonatal lethality "death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0)" [MGI:csmith]
Show

Allelic Composition: Ncoa1tm1Bwo/Ncoa1tm1Bwo,Ncoa2tm1.1Ipc/Ncoa2tm1.1Ipc,Pgrtm2(cre)Lyd/Pgr+
Genetic Background: involves: 129/Sv * 129S1/Sv * 129S2/SvPas * 129X1/SvJ

 MP:0011346 renal tubule atrophy "acquired diminution of the size of the loops of Henle, the proximal convoluted tubule or the distal convoluted tubule associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes" [MGI:anna]
Show

Allelic Composition: Magi2tm1Key/Magi2tm1Key
Genetic Background: involves: 129S4/SvJae

 MP:0011353 expanded mesangial matrix "increase in the amount of mesangial matrix present in the basement membrane surrounding the glomerular capillaries that also contain the intraglomerular mesangial cells" [MGI:csmith]
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Allelic Composition: Magi2tm1Key/Magi2tm1Key
Genetic Background: involves: 129S4/SvJae

 MP:0011402 renal cast "any of the various casts formed from gelled protein precipitated in the distal convoluted tubules and collecting ducts of nephrons and molded to the tubular or duct lumen which dislodge and pass into the urine; types named for their constituent material include acellular casts (e.g. granular, hyaline, waxy, or fatty casts) and cellular casts (e.g. red or white blood cell casts)" [MGI:anna]
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Allelic Composition: Magi2tm1Key/Magi2tm1Key
Genetic Background: involves: 129S4/SvJae

 MP:0011405 tubulointerstitial nephritis "diffuse or local inflammation and edema of the interstitial tissue of the kidney, including the renal tubules; usually secondary to drug sensitization, systemic infection, graft rejection, or autoimmune disease" [MGI:anna]
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Allelic Composition: Magi2tm1Key/Magi2tm1Key
Genetic Background: involves: 129S4/SvJae

 MP:0011455 absent glomerular endothelium fenestra "absence of the large plasma membrane-lined circular pores that normally perforate the flattened glomerular endothelium; loss of fenestrae may lead to a reduction in the glomerular filtration rate or proteinuria" [MGI:anna]
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Allelic Composition: Magi2tm1Key/Magi2tm1Key
Genetic Background: involves: 129S4/SvJae

 MP:0011498 abnormal glomerular capsule parietal layer morphology "any structural anomaly of the outer layer of the glomerular capsule composed of a single layer of simple squamous epithelium" [MGI:anna]
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Allelic Composition: Magi2tm1Key/Magi2tm1Key
Genetic Background: involves: 129S4/SvJae

 MP:0011506 glomerular crescent "formation of a crescent-shaped (semi-lunar) glomerular lesion corresponding to extracapillary proliferation of Bowman s capsular epithelium and acquiring a fibroblast-like spindled morphology, possibly stimulated by release of fibrinogen from a ruptured glomerular basement membrane; epithelial crescents occur in aggressive forms of glomerulonephritis, may be accompanied by collagen and fibrin deposition and/or monocyte and macrophage proliferation, may protrude into Bowman s space, and ultimately compress and destroy the glomerular tuft" [MGI:anna]
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Allelic Composition: Magi2tm1Key/Magi2tm1Key
Genetic Background: involves: 129S4/SvJae

 MP:0011856 abnormal glomerular filtration barrier function "anomaly in the function of the highly specialized blood filtration interface that displays a high conductance to small and midsized solutes in plasma but retains relative impermeability to macromolecules; its integrity is maintained by physicochemical and signalling interplay among its three core constituents -- the fenestrated endothelium of the glomerular capillaries, the glomerular basement membrane, and the filtration slits of the visceral epithelial cell (podocyte); the barrier permits the passage of water, ions, and small molecules from the bloodstream into the Bowman s space and prevents the loss of large and/or negatively charged proteins (e.g. serum albumin) from blood into urine" [MGI:anna]
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Allelic Composition: Magi2tm1Key/Magi2tm1Key
Genetic Background: involves: 129S4/SvJae

 MP:0011868 podocyte microvillus transformation "aberrant formation of numerous slender cellular projections resembling microvilli or vesicle-like structures along the apical surface of podocytes, suggestive of podocyte injury" [MGI:anna]
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Allelic Composition: Magi2tm1Key/Magi2tm1Key
Genetic Background: involves: 129S4/SvJae

 MP:0011871 podocyte hypertrophy "increase in the bulk size of the modified epithelial cell of the visceral layer of the Bowman capsule in the renal corpuscle, due to cell enlargement" [MGI:anna]
Show

Allelic Composition: Magi2tm1Key/Magi2tm1Key
Genetic Background: involves: 129S4/SvJae

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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