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 kinase-like domain, and multiple PDZ domains. It has structural similarity to the membrane-associated guanylate kinase homologu... See more...

Aliases for MAGI2 Gene

Aliases for MAGI2 Gene

  • Membrane Associated Guanylate Kinase, WW And PDZ Domain Containing 2 2 3 5
  • Membrane-Associated Guanylate Kinase, WW And PDZ Domain-Containing Protein 2 3 4
  • Membrane-Associated Guanylate Kinase Inverted 2 3 4
  • Atrophin-1-Interacting Protein 1 3 4
  • Atrophin-1-Interacting Protein A 3 4
  • MAGI-2 3 4
  • AIP-1 3 4
  • AIP1 3 4
  • Activin Receptor Interacting Protein 1 3
  • ACVRINP1 4
  • KIAA0705 4
  • ACVRIP1 3
  • NPHS15 3
  • ARIP1 3
  • SSCAM 3

External Ids for MAGI2 Gene

Previous GeneCards Identifiers for MAGI2 Gene

  • GC07M077292
  • GC07M077484
  • GC07M077646
  • GC07M072249

Summaries for MAGI2 Gene

Entrez Gene Summary for MAGI2 Gene

  • 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 kinase-like domain, and multiple PDZ domains. It has structural similarity to the membrane-associated guanylate kinase homologue (MAGUK) family. [provided by RefSeq, Jul 2008]

GeneCards Summary for MAGI2 Gene

MAGI2 (Membrane Associated Guanylate Kinase, WW And PDZ Domain Containing 2) is a Protein Coding gene. Diseases associated with MAGI2 include Nephrotic Syndrome, Type 15 and Nephrotic Syndrome. Among its related pathways are Ras signaling pathway and Pathways Affected in Adenoid Cystic Carcinoma. Gene Ontology (GO) annotations related to this gene include obsolete signal transducer activity and SMAD binding. An important paralog of this gene is MAGI1.

UniProtKB/Swiss-Prot Summary for MAGI2 Gene

  • Seems to act as scaffold molecule at synaptic junctions by assembling neurotransmitter receptors and cell adhesion proteins. May play a role in regulating activin-mediated signaling in neuronal cells. Enhances the ability of PTEN to suppress AKT1 activation. Plays a role in nerve growth factor (NGF)-induced recruitment of RAPGEF2 to late endosomes and neurite outgrowth.

Gene Wiki entry for MAGI2 Gene

Additional gene information for MAGI2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MAGI2 Gene

Genomics for MAGI2 Gene

GeneHancer (GH) Regulatory Elements for MAGI2 Gene

Promoters and enhancers for MAGI2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J079450 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 +0.5 545 4.8 EP300 TCF12 POLR2G USF1 NCOR1 JUND FOS ZNF639 ZNF10 ZIC2 MAGI2-AS3 HQ292141 MAGI2
GH07J078489 Promoter/Enhancer 1.4 UCNEbase EPDnew Ensembl dbSUPER 504.7 +964.1 964126 1 MXI1 GATA3 RCOR1 CHD2 GATA2 MAGI2 ENSG00000226230 lnc-PHTF2-5 L13714-423
GH07J079317 Enhancer 1.2 FANTOM5 Ensembl ENCODE 3 +136.0 136004 1.2 TCF12 JUND FOS TEAD4 CUX1 TEAD1 ZEB1 CTBP1 OSR2 WT1 MAGI2-AS3 MAGI2 RF00026-1017 lnc-GNAI1-7 RF00017-6411
GH07J079280 Enhancer 1.2 FANTOM5 Ensembl ENCODE CraniofacialAtlas 2.4 +170.4 170407 5.6 TCF12 JUND CTCF EP300 ZNF316 SMC3 MAFF POLR2A NR3C1 FOSL2 MAGI2-AS3 MAGI2 RF00994-1009 lnc-GNAI1-7 RF00017-6411
GH07J079420 Enhancer 1.1 FANTOM5 Ensembl ENCODE 2.6 +33.4 33404 1.2 TCF12 JUND FOS ZNF639 ZNF10 ZNF623 TRIM28 ATF2 OSR2 WT1 MAGI2-AS3 MAGI2 piR-59056-007
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MAGI2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MAGI2

Top Transcription factor binding sites by QIAGEN in the MAGI2 gene promoter:
  • aMEF-2
  • GATA-1
  • HNF-1
  • HNF-1A
  • HOXA5
  • LCR-F1
  • MAZR
  • MEF-2A
  • N-Myc
  • Olf-1

Genomic Locations for MAGI2 Gene

Genomic Locations for MAGI2 Gene
chr7:78,017,055-79,453,805
(GRCh38/hg38)
Size:
1,436,751 bases
Orientation:
Minus strand
chr7:77,646,374-79,082,890
(GRCh37/hg19)
Size:
1,436,517 bases
Orientation:
Minus strand

Genomic View for MAGI2 Gene

Genes around MAGI2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAGI2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAGI2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAGI2 Gene

Proteins for MAGI2 Gene

  • Protein details for MAGI2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86UL8-MAGI2_HUMAN
    Recommended name:
    Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2
    Protein Accession:
    Q86UL8
    Secondary Accessions:
    • A4D1C1
    • A7E2C3
    • O60434
    • O60510
    • Q86UI7
    • Q9NP44
    • Q9UDQ5
    • Q9UDU1

    Protein attributes for MAGI2 Gene

    Size:
    1455 amino acids
    Molecular mass:
    158754 Da
    Quaternary structure:
    • Interacts (via its WW domains) with DRPLA (PubMed:9647693). Interacts (via its second PDZ domain) with PTEN (via unphosphorylated C-terminus); this interaction diminishes the degradation rate of PTEN (PubMed:10760291, PubMed:11707428). Interacts (via guanylate kinase domain) with DLGAP1 (By similarity). Interacts (via the PDZ domains) with GRIN2A, GRID2 and NLGN1 (By similarity). Interacts with CTNND2, CTNNB1, MAGUIN-1, ACVR2A, SMAD2 and SMAD3 (By similarity). Part of a complex consisting of AIP1, ACVR2A, ACVR1B and SMAD3 (By similarity). May interact with HTR2A (By similarity). Interacts with IGSF9, RAPGEF2 and HTR4 (By similarity). Identified in a complex with ACTN4, CASK, IQGAP1, NPHS1, SPTAN1 and SPTBN1 (By similarity). Found in a complex, at least composed of KIDINS220, MAGI2, NTRK1 and RAPGEF2; the complex is mainly formed at late endosomes in a NGF-dependent manner (By similarity). Interacts with RAPGEF2; the interaction occurs before or after nerve growth factor (NGF) stimulation (By similarity). Interacts (via PDZ domain) with KIDINS220 (via C-terminal domain) (By similarity). Interacts with DDN (PubMed:16464232). Interacts with DLL1 (By similarity). Found in a complex with IGSF9B and NLGN2; the interaction with IGSF9B is mediated via the PDZ 5 and PDZ 6 domains, while the interaction with NLGN2 is mediated via the WW1, WW2 and PDZ2 domains (PubMed:23751499).
    SequenceCaution:
    • Sequence=BAA31680.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MAGI2 Gene

    Alternative splice isoforms for MAGI2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MAGI2 Gene

Post-translational modifications for MAGI2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MAGI2 Gene

Domains & Families for MAGI2 Gene

Gene Families for MAGI2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted intracellular proteins
  • Transporters

Protein Domains for MAGI2 Gene

Suggested Antigen Peptide Sequences for MAGI2 Gene

GenScript: Design optimal peptide antigens:
  • Membrane associated guanylate kinase, WW and PDZ domain containing 2, isoform CRA_b (D6W5N0_HUMAN)
  • Membrane-associated guanylate kinase inverted 2 (MAGI2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86UL8

UniProtKB/Swiss-Prot:

MAGI2_HUMAN :
  • Belongs to the MAGUK family.
Family:
  • Belongs to the MAGUK family.
genes like me logo Genes that share domains with MAGI2: view

Function for MAGI2 Gene

Molecular function for MAGI2 Gene

UniProtKB/Swiss-Prot Function:
Seems to act as scaffold molecule at synaptic junctions by assembling neurotransmitter receptors and cell adhesion proteins. May play a role in regulating activin-mediated signaling in neuronal cells. Enhances the ability of PTEN to suppress AKT1 activation. Plays a role in nerve growth factor (NGF)-induced recruitment of RAPGEF2 to late endosomes and neurite outgrowth.

Phenotypes From GWAS Catalog for MAGI2 Gene

Gene Ontology (GO) - Molecular Function for MAGI2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI,IEA 9647693
GO:0016301 kinase activity IEA --
GO:0019902 phosphatase binding IPI 10760291
GO:0030159 receptor signaling complex scaffold activity IDA,IBA 11526121
GO:0031697 beta-1 adrenergic receptor binding IPI,IBA 11526121
genes like me logo Genes that share ontologies with MAGI2: view
genes like me logo Genes that share phenotypes with MAGI2: view

Human Phenotype Ontology for MAGI2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MAGI2 Gene

MGI Knock Outs for MAGI2:

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MAGI2 Gene

Localization for MAGI2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAGI2 Gene

Cytoplasm. Late endosome. Cell junction, synapse, synaptosome. Cell membrane; Peripheral membrane protein. Note=Localized diffusely in the cytoplasm before nerve growth factor (NGF) stimulation. Recruted to late endosomes after NGF stimulation. Membrane-associated in synaptosomes (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MAGI2 gene
Compartment Confidence
plasma membrane 5
nucleus 5
endosome 4
cytoskeleton 2
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for MAGI2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 10760291
GO:0005737 cytoplasm IBA,IDA 11526121
GO:0005768 endosome IEA --
GO:0005770 late endosome ISS --
GO:0005886 plasma membrane IDA,IEA 10760291
genes like me logo Genes that share ontologies with MAGI2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MAGI2 Gene

Pathways & Interactions for MAGI2 Gene

genes like me logo Genes that share pathways with MAGI2: view

Pathways by source for MAGI2 Gene

1 BioSystems pathway for MAGI2 Gene
2 Reactome pathways for MAGI2 Gene
2 KEGG pathways for MAGI2 Gene
1 GeneGo (Thomson Reuters) pathway for MAGI2 Gene
  • Signal transduction PTEN pathway

Gene Ontology (GO) - Biological Process for MAGI2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002092 positive regulation of receptor internalization IDA 11526121
GO:0003402 planar cell polarity pathway involved in axis elongation NAS 20534871
GO:0007165 signal transduction IEA,IBA 21873635
GO:0007399 nervous system development IEA --
GO:0008285 negative regulation of cell proliferation ISS --
genes like me logo Genes that share ontologies with MAGI2: view

No data available for SIGNOR curated interactions for MAGI2 Gene

Drugs & Compounds for MAGI2 Gene

(1) Additional Compounds for MAGI2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MAGI2: view

Transcripts for MAGI2 Gene

mRNA/cDNA for MAGI2 Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
42 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MAGI2 Gene

No ASD Table

Relevant External Links for MAGI2 Gene

GeneLoc Exon Structure for
MAGI2

Expression for MAGI2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MAGI2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MAGI2 Gene

This gene is overexpressed in Pancreas (34.6), Frontal cortex (12.3), and Adipocyte (9.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MAGI2 Gene



Protein tissue co-expression partners for MAGI2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MAGI2

SOURCE GeneReport for Unigene cluster for MAGI2 Gene:

Hs.603842

mRNA Expression by UniProt/SwissProt for MAGI2 Gene:

Q86UL8-MAGI2_HUMAN
Tissue specificity: Specifically expressed in brain.

Evidence on tissue expression from TISSUES for MAGI2 Gene

  • Nervous system(4.9)
  • Kidney(2.2)
genes like me logo Genes that share expression patterns with MAGI2: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for MAGI2 Gene

Orthologs for MAGI2 Gene

This gene was present in the common ancestor of animals.

Orthologs for MAGI2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MAGI2 31 30
  • 99.2 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MAGI2 31 30
  • 94.04 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Magi2 17 31 30
  • 93.12 (n)
rat
(Rattus norvegicus)
Mammalia Magi2 30
  • 92.12 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 92 (a)
OneToMany
-- 31
  • 91 (a)
OneToMany
-- 31
  • 79 (a)
OneToMany
cow
(Bos Taurus)
Mammalia MAGI2 30
  • 91.84 (n)
oppossum
(Monodelphis domestica)
Mammalia MAGI2 31
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves MAGI2 31 30
  • 85.45 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MAGI2 31
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.7307 30
zebrafish
(Danio rerio)
Actinopterygii MAGI2 (2 of 2) 31
  • 70 (a)
OneToMany
magi2 31 30
  • 68.11 (n)
OneToMany
wufb82g11 30
fruit fly
(Drosophila melanogaster)
Insecta Magi 31
  • 28 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea magi-1 31 30
  • 49.82 (n)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 42 (a)
OneToMany
Species where no ortholog for MAGI2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MAGI2 Gene

ENSEMBL:
Gene Tree for MAGI2 (if available)
TreeFam:
Gene Tree for MAGI2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MAGI2: view image

Paralogs for MAGI2 Gene

Paralogs for MAGI2 Gene

(8) SIMAP similar genes for MAGI2 Gene using alignment to 5 proteins:

  • MAGI2_HUMAN
  • D6W5N0_HUMAN
  • E7EWI0_HUMAN
  • F5GWH1_HUMAN
  • F5GWK7_HUMAN
genes like me logo Genes that share paralogs with MAGI2: view

Variants for MAGI2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MAGI2 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
586132 Uncertain Significance: not provided 78,256,252(-) C/G MISSENSE_VARIANT
586133 Uncertain Significance: not provided 78,135,030(-) G/A MISSENSE_VARIANT
593361 Uncertain Significance: not provided 78,256,467(-) C/T MISSENSE_VARIANT
594574 Uncertain Significance: not provided 78,019,682(-) C/A MISSENSE_VARIANT
595528 Uncertain Significance: not provided 79,453,310(-) C/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for MAGI2 Gene

Structural Variations from Database of Genomic Variants (DGV) for MAGI2 Gene

Variant ID Type Subtype PubMed ID
dgv11480n54 CNV loss 21841781
dgv131n17 CNV loss 16327808
dgv3598n106 CNV deletion 24896259
dgv6511n100 CNV loss 25217958
esv1445467 CNV insertion 17803354
esv1783865 CNV deletion 17803354
esv2047769 CNV deletion 18987734
esv2407744 CNV deletion 18987734
esv2421751 CNV deletion 20811451
esv2467595 CNV deletion 19546169
esv25287 CNV loss 19812545
esv25735 CNV gain 19812545
esv2657048 CNV deletion 23128226
esv2660614 CNV deletion 23128226
esv2665691 CNV deletion 23128226
esv2666550 CNV deletion 23128226
esv2670414 CNV deletion 23128226
esv2671558 CNV deletion 23128226
esv2734707 CNV deletion 23290073
esv2734708 CNV deletion 23290073
esv2734709 CNV deletion 23290073
esv2734710 CNV deletion 23290073
esv2734711 CNV deletion 23290073
esv2734712 CNV deletion 23290073
esv2734713 CNV deletion 23290073
esv2734714 CNV deletion 23290073
esv2734715 CNV deletion 23290073
esv2734716 CNV deletion 23290073
esv2734718 CNV deletion 23290073
esv2734719 CNV deletion 23290073
esv2734720 CNV deletion 23290073
esv2734721 CNV deletion 23290073
esv274905 CNV loss 21479260
esv2759539 CNV loss 17122850
esv2761161 CNV loss 21179565
esv2761339 CNV loss 21179565
esv2762681 CNV gain 21179565
esv2764028 CNV gain+loss 21179565
esv28012 CNV loss 19812545
esv3279273 CNV deletion 24192839
esv33014 CNV loss 17666407
esv3306957 CNV mobile element insertion 20981092
esv3307572 CNV mobile element insertion 20981092
esv3309556 CNV mobile element insertion 20981092
esv3353380 CNV insertion 20981092
esv3387781 CNV insertion 20981092
esv3399408 CNV insertion 20981092
esv3405893 CNV insertion 20981092
esv3438633 CNV insertion 20981092
esv3541955 CNV deletion 23714750
esv3541962 CNV deletion 23714750
esv3541963 CNV deletion 23714750
esv3571935 CNV loss 25503493
esv3571936 CNV loss 25503493
esv3571937 CNV loss 25503493
esv3576395 CNV gain 25503493
esv3613811 CNV loss 21293372
esv3613812 CNV loss 21293372
esv3613815 CNV gain 21293372
esv3613816 CNV gain 21293372
esv3613817 CNV gain 21293372
esv3613822 CNV gain 21293372
esv3613823 CNV loss 21293372
esv3613824 CNV loss 21293372
esv3613826 CNV loss 21293372
esv3613828 CNV loss 21293372
esv3613830 CNV gain 21293372
esv3613832 CNV loss 21293372
esv3613833 CNV loss 21293372
esv5222 CNV loss 18987735
esv6813 CNV gain 19470904
esv7615 CNV gain 19470904
esv8611 CNV loss 19470904
esv9717 CNV loss 19470904
esv996600 CNV deletion 20482838
nsv1019355 CNV loss 25217958
nsv1022764 CNV loss 25217958
nsv1023323 CNV gain 25217958
nsv1033518 CNV loss 25217958
nsv1075037 CNV deletion 25765185
nsv1116565 OTHER inversion 24896259
nsv1117463 CNV tandem duplication 24896259
nsv1137261 CNV deletion 24896259
nsv1137262 CNV deletion 24896259
nsv1140811 CNV deletion 24896259
nsv1140812 CNV deletion 24896259
nsv1140813 CNV deletion 24896259
nsv1140814 CNV deletion 24896259
nsv1140815 CNV deletion 24896259
nsv1149204 CNV deletion 26484159
nsv1161569 CNV duplication 26073780
nsv1161570 CNV deletion 26073780
nsv1161571 CNV duplication 26073780
nsv365848 CNV deletion 16902084
nsv366172 CNV deletion 16902084
nsv433238 CNV loss 18776910
nsv437550 CNV loss 16327808
nsv437553 CNV loss 16327808
nsv437555 CNV loss 16327808
nsv437988 CNV loss 16468122
nsv442003 CNV loss 18776908
nsv464599 CNV loss 19166990
nsv464600 CNV loss 19166990
nsv470332 CNV loss 18288195
nsv471642 CNV loss 15918152
nsv475128 CNV novel sequence insertion 20440878
nsv499658 CNV loss 21111241
nsv507397 OTHER sequence alteration 20534489
nsv514427 CNV loss 21397061
nsv517007 CNV loss 19592680
nsv517349 CNV loss 19592680
nsv517924 CNV loss 19592680
nsv519260 CNV gain 19592680
nsv521257 CNV loss 19592680
nsv521622 CNV loss 19592680
nsv522955 CNV loss 19592680
nsv527106 CNV loss 19592680
nsv5802 CNV insertion 18451855
nsv5803 CNV insertion 18451855
nsv5804 CNV insertion 18451855
nsv5805 CNV insertion 18451855
nsv5806 CNV deletion 18451855
nsv5807 CNV insertion 18451855
nsv607654 CNV gain 21841781
nsv607655 CNV loss 21841781
nsv607656 CNV loss 21841781
nsv607657 CNV gain 21841781
nsv607658 CNV gain 21841781
nsv607659 CNV gain 21841781
nsv607660 CNV loss 21841781
nsv607661 CNV loss 21841781
nsv607662 CNV loss 21841781
nsv607663 CNV loss 21841781
nsv607664 CNV loss 21841781
nsv8168 CNV loss 18304495
nsv818524 CNV loss 17921354
nsv818525 CNV loss 17921354
nsv831040 CNV gain 17160897
nsv831041 CNV gain+loss 17160897
nsv957583 CNV deletion 24416366
nsv970901 CNV duplication 23825009

Variation tolerance for MAGI2 Gene

Residual Variation Intolerance Score: 1.71% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.06; 37.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MAGI2 Gene

Human Gene Mutation Database (HGMD)
MAGI2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAGI2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAGI2 Gene

Disorders for MAGI2 Gene

MalaCards: The human disease database

(7) MalaCards diseases for MAGI2 Gene - From: OMIM, ClinVar, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
nephrotic syndrome, type 15
  • nphs15
nephrotic syndrome
  • finnish congenital nephrotic syndrome
usher syndrome
  • retinitis pigmentosa-deafness syndrome
end stage renal failure
  • end stage renal disease
cri-du-chat syndrome
  • cat cry syndrome
- elite association - COSMIC cancer census association via MalaCards
Search MAGI2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MAGI2_HUMAN
  • Nephrotic syndrome 15 (NPHS15) [MIM:617609]: 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. {ECO:0000269 PubMed:27932480}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MAGI2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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No data available for Genatlas for MAGI2 Gene

Publications for MAGI2 Gene

  1. Evidence for regulation of the PTEN tumor suppressor by a membrane-localized multi-PDZ domain containing scaffold protein MAGI-2. (PMID: 10760291) Wu X … Whang YE (Proceedings of the National Academy of Sciences of the United States of America 2000) 3 4 23 54
  2. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9734811) Ishikawa K … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4 54
  3. MAGI2 Mutations Cause Congenital Nephrotic Syndrome. (PMID: 27932480) Bierzynska A … UK study of Nephrotic Syndrome (Journal of the American Society of Nephrology : JASN 2017) 3 4 54
  4. Pharmacogenomic study of side-effects for antidepressant treatment options in STAR*D. (PMID: 22041458) Clark SL … van den Oord EJ (Psychological medicine 2012) 3 41 54
  5. Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women. (PMID: 20966902) Croteau-Chonka DC … Mohlke KL (Obesity (Silver Spring, Md.) 2011) 3 41 54

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Sources for MAGI2 Gene