Atlas of Genetics and Cytogenetics in Oncology and Haematology

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MAGI2 (membrane associated guanylate kinase, WW and PDZ domain containing 2)

Identity

Alias_symbol (synonym)AIP1
ARIP1
KIAA0705
ACVRIP1
MAGI-2
Other aliasAIP-1
NPHS15
SSCAM
HGNC (Hugo) MAGI2
LocusID (NCBI) 9863
Atlas_Id 49960
Location 7q21.11  [Link to chromosome band 7q21]
Location_base_pair Starts at 78017057 and ends at 79453574 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
KIF1B (1p36.22) / MAGI2 (7q21.11)MAGI2 (7q21.11) / CTNNA2 (2p12)MAGI2 (7q21.11) / MAP6D1 (3q27.1)
MAGI2 (7q21.11) / VWC2 (7p12.2)PILRB (7q22.1) / MAGI2 (7q21.11)MAGI2 7q21.11 / VWC2 7p12.2
PILRB 7q22.1 / MAGI2 7q21.11

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(7;7)(p12;q21) MAGI2/VWC2
t(7;7)(q21;q22) PILRB/MAGI2

External links

Nomenclature
HGNC (Hugo)MAGI2   18957
Cards
Entrez_Gene (NCBI)MAGI2  9863  membrane associated guanylate kinase, WW and PDZ domain containing 2
AliasesACVRIP1; AIP-1; AIP1; ARIP1; 
MAGI-2; NPHS15; SSCAM
GeneCards (Weizmann)MAGI2
Ensembl hg19 (Hinxton)ENSG00000187391 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000187391 [Gene_View]  ENSG00000187391 [Sequence]  chr7:78017057-79453574 [Contig_View]  MAGI2 [Vega]
ICGC DataPortalENSG00000187391
TCGA cBioPortalMAGI2
AceView (NCBI)MAGI2
Genatlas (Paris)MAGI2
WikiGenes9863
SOURCE (Princeton)MAGI2
Genetics Home Reference (NIH)MAGI2
Genomic and cartography
GoldenPath hg38 (UCSC)MAGI2  -     chr7:78017057-79453574 -  7q21.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MAGI2  -     7q21.11   [Description]    (hg19-Feb_2009)
GoldenPathMAGI2 - 7q21.11 [CytoView hg19]  MAGI2 - 7q21.11 [CytoView hg38]
ImmunoBaseENSG00000187391
Mapping of homologs : NCBIMAGI2 [Mapview hg19]  MAGI2 [Mapview hg38]
OMIM606382   617609   
Gene and transcription
Genbank (Entrez)AA448362 AA890379 AB014605 AF038563 AK297353
RefSeq transcript (Entrez)NM_001301128 NM_012301
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MAGI2
Cluster EST : UnigeneHs.603842 [ NCBI ]
CGAP (NCI)Hs.603842
Alternative Splicing GalleryENSG00000187391
Gene ExpressionMAGI2 [ NCBI-GEO ]   MAGI2 [ EBI - ARRAY_EXPRESS ]   MAGI2 [ SEEK ]   MAGI2 [ MEM ]
Gene Expression Viewer (FireBrowse)MAGI2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9863
GTEX Portal (Tissue expression)MAGI2
Human Protein AtlasENSG00000187391-MAGI2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ86UL8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ86UL8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ86UL8
Splice isoforms : SwissVarQ86UL8
PhosPhoSitePlusQ86UL8
Domaine pattern : Prosite (Expaxy)GUANYLATE_KINASE_1 (PS00856)    GUANYLATE_KINASE_2 (PS50052)    PDZ (PS50106)    WW_DOMAIN_1 (PS01159)    WW_DOMAIN_2 (PS50020)   
Domains : Interpro (EBI)GK/Ca_channel_bsu    Guanylate_kin-like_dom    Guanylate_kinase_CS    MAGI2    P-loop_NTPase    PDZ    PDZ_sf    WW_dom    WW_dom_sf   
Domain families : Pfam (Sanger)Guanylate_kin (PF00625)    PDZ (PF00595)    WW (PF00397)   
Domain families : Pfam (NCBI)pfam00625    pfam00595    pfam00397   
Domain families : Smart (EMBL)GuKc (SM00072)  PDZ (SM00228)  WW (SM00456)  
Conserved Domain (NCBI)MAGI2
DMDM Disease mutations9863
Blocks (Seattle)MAGI2
PDB (RSDB)1UEP    1UEQ    1UEW    1UJV    1WFV   
PDB Europe1UEP    1UEQ    1UEW    1UJV    1WFV   
PDB (PDBSum)1UEP    1UEQ    1UEW    1UJV    1WFV   
PDB (IMB)1UEP    1UEQ    1UEW    1UJV    1WFV   
Structural Biology KnowledgeBase1UEP    1UEQ    1UEW    1UJV    1WFV   
SCOP (Structural Classification of Proteins)1UEP    1UEQ    1UEW    1UJV    1WFV   
CATH (Classification of proteins structures)1UEP    1UEQ    1UEW    1UJV    1WFV   
SuperfamilyQ86UL8
Human Protein Atlas [tissue]ENSG00000187391-MAGI2 [tissue]
Peptide AtlasQ86UL8
HPRD16212
IPIIPI00413880   IPI00376306   IPI00921930   IPI01011842   IPI01014707   IPI00927415   
Protein Interaction databases
DIP (DOE-UCLA)Q86UL8
IntAct (EBI)Q86UL8
FunCoupENSG00000187391
BioGRIDMAGI2
STRING (EMBL)MAGI2
ZODIACMAGI2
Ontologies - Pathways
QuickGOQ86UL8
Ontology : AmiGOpositive regulation of receptor internalization  planar cell polarity pathway involved in axis elongation  protein binding  nucleus  cytoplasm  cytoplasm  late endosome  plasma membrane  cell-cell junction  bicellular tight junction  signal transduction  negative regulation of cell proliferation  positive regulation of signal transduction  positive regulation of neuron projection development  postsynaptic density  phosphatase binding  receptor signaling complex scaffold activity  receptor signaling complex scaffold activity  negative regulation of cell migration  dendrite  dendrite  beta-1 adrenergic receptor binding  beta-1 adrenergic receptor binding  positive regulation of phosphoprotein phosphatase activity  negative regulation of activin receptor signaling pathway  protein-containing complex  slit diaphragm  nerve growth factor signaling pathway  receptor clustering  receptor clustering  synapse  SMAD binding  SMAD binding  perinuclear region of cytoplasm  protein heterooligomerization  negative regulation of protein kinase B signaling  SMAD protein signal transduction  type II activin receptor binding  type II activin receptor binding  mitotic cell cycle arrest  glomerular visceral epithelial cell development  neuroligin clustering involved in postsynaptic membrane assembly  cellular response to nerve growth factor stimulus  positive regulation of synaptic vesicle clustering  
Ontology : EGO-EBIpositive regulation of receptor internalization  planar cell polarity pathway involved in axis elongation  protein binding  nucleus  cytoplasm  cytoplasm  late endosome  plasma membrane  cell-cell junction  bicellular tight junction  signal transduction  negative regulation of cell proliferation  positive regulation of signal transduction  positive regulation of neuron projection development  postsynaptic density  phosphatase binding  receptor signaling complex scaffold activity  receptor signaling complex scaffold activity  negative regulation of cell migration  dendrite  dendrite  beta-1 adrenergic receptor binding  beta-1 adrenergic receptor binding  positive regulation of phosphoprotein phosphatase activity  negative regulation of activin receptor signaling pathway  protein-containing complex  slit diaphragm  nerve growth factor signaling pathway  receptor clustering  receptor clustering  synapse  SMAD binding  SMAD binding  perinuclear region of cytoplasm  protein heterooligomerization  negative regulation of protein kinase B signaling  SMAD protein signal transduction  type II activin receptor binding  type II activin receptor binding  mitotic cell cycle arrest  glomerular visceral epithelial cell development  neuroligin clustering involved in postsynaptic membrane assembly  cellular response to nerve growth factor stimulus  positive regulation of synaptic vesicle clustering  
Pathways : KEGGRap1 signaling pathway    Tight junction    TNF signaling pathway   
NDEx NetworkMAGI2
Atlas of Cancer Signalling NetworkMAGI2
Wikipedia pathwaysMAGI2
Orthology - Evolution
OrthoDB9863
GeneTree (enSembl)ENSG00000187391
Phylogenetic Trees/Animal Genes : TreeFamMAGI2
HOGENOMQ86UL8
Homologs : HomoloGeneMAGI2
Homology/Alignments : Family Browser (UCSC)MAGI2
Gene fusions - Rearrangements
Fusion : MitelmanMAGI2/VWC2 [7q21.11/7p12.2]  
Fusion : MitelmanPILRB/MAGI2 [7q22.1/7q21.11]  [t(7;7)(q21;q22)]  
Fusion PortalMAGI2 7q21.11 VWC2 7p12.2 LGG
Fusion PortalPILRB 7q22.1 MAGI2 7q21.11 BRCA
Fusion : QuiverMAGI2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMAGI2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MAGI2
dbVarMAGI2
ClinVarMAGI2
1000_GenomesMAGI2 
Exome Variant ServerMAGI2
ExAC (Exome Aggregation Consortium)ENSG00000187391
GNOMAD BrowserENSG00000187391
Varsome BrowserMAGI2
Genetic variants : HAPMAP9863
Genomic Variants (DGV)MAGI2 [DGVbeta]
DECIPHERMAGI2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMAGI2 
Mutations
ICGC Data PortalMAGI2 
TCGA Data PortalMAGI2 
Broad Tumor PortalMAGI2
OASIS PortalMAGI2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMAGI2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DMAGI2
Mutations and Diseases : HGMDMAGI2
intOGen PortalMAGI2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch MAGI2
DgiDB (Drug Gene Interaction Database)MAGI2
DoCM (Curated mutations)MAGI2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MAGI2 (select a term)
intoGenMAGI2
Cancer3DMAGI2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606382    617609   
Orphanet
DisGeNETMAGI2
MedgenMAGI2
Genetic Testing Registry MAGI2
NextProtQ86UL8 [Medical]
TSGene9863
GENETestsMAGI2
Target ValidationMAGI2
Huge Navigator MAGI2 [HugePedia]
snp3D : Map Gene to Disease9863
BioCentury BCIQMAGI2
ClinGenMAGI2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9863
Chemical/Pharm GKB GenePA142671484
Clinical trialMAGI2
Miscellaneous
canSAR (ICR)MAGI2 (select the gene name)
DataMed IndexMAGI2
Probes
Litterature
PubMed63 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMAGI2
EVEXMAGI2
GoPubMedMAGI2
iHOPMAGI2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Nov 13 17:52:23 CET 2019
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