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Aliases for MAGI2 Gene

Aliases for MAGI2 Gene

  • Membrane Associated Guanylate Kinase, WW And PDZ Domain Containing 2 2 3
  • AIP1 3 4 6
  • Membrane-Associated Guanylate Kinase Inverted 2 3 4
  • Atrophin-1-Interacting Protein 1 3 4
  • Atrophin-1-Interacting Protein A 3 4
  • KIAA0705 4 6
  • MAGI-2 3 4
  • Aip-1 3 4
  • Membrane-Associated Guanylate Kinase, WW And PDZ Domain-Containing Protein 2 3
  • Activin Receptor Interacting Protein 1 3
  • ACVRINP1 4
  • ACVRIP1 3
  • ARIP1 3
  • SSCAM 3

External Ids for MAGI2 Gene

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 ohtahara syndrome. Among its related pathways are Ras signaling pathway and PAK Pathway. GO annotations related to this gene include signal transducer activity and SMAD binding. An important paralog of this gene is MAGI3.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MAGI2 Gene

Genomics for MAGI2 Gene

Genomic Location for MAGI2 Gene

Start:
78,017,057 bp from pter
End:
79,453,805 bp from pter
Size:
1,436,749 bases
Orientation:
Minus strand

Genomic View for MAGI2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MAGI2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAGI2 Gene

Regulatory Elements 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. Interacts (via its second PDZ domain) with PTEN (via unphosphorylated C-terminus); this interaction diminishes the degradation rate of PTEN (By similarity). 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.
    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

Proteomics data for MAGI2 Gene at MOPED

Post-translational modifications for MAGI2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MAGI2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for MAGI2 Gene

Domains for MAGI2 Gene

Graphical View of Domain Structure for InterPro Entry

Q86UL8

UniProtKB/Swiss-Prot:

MAGI2_HUMAN
Domain:
  • Contains 1 guanylate kinase-like domain.:
    • Q86UL8
  • Contains 6 PDZ (DHR) domains.:
    • Q86UL8
  • Contains 2 WW domains.:
    • Q86UL8
Family:
  • Belongs to the MAGUK family.:
    • Q86UL8
genes like me logo Genes that share domains with MAGI2: view

No data available for Gene Families for MAGI2 Gene

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.

Gene Ontology (GO) - Molecular Function for MAGI2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004871 signal transducer activity IEA --
GO:0005515 protein binding IPI 10548487
GO:0019902 phosphatase binding IPI 10760291
GO:0030159 receptor signaling complex scaffold activity IDA 11526121
GO:0031697 beta-1 adrenergic receptor binding IPI 11526121
genes like me logo Genes that share ontologies with MAGI2: view

Phenotypes for MAGI2 Gene

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

Animal Models for MAGI2 Gene

MGI Knock Outs for MAGI2:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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
Jensen Localization Image for MAGI2 Gene COMPARTMENTS Subcellular localization image for MAGI2 gene
Compartment Confidence
nucleus 5
plasma membrane 5
cytoskeleton 4
cytosol 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 IDA 11526121
GO:0005770 late endosome ISS --
GO:0005886 plasma membrane IDA 10760291
GO:0005923 bicellular tight junction IDA 10760291
genes like me logo Genes that share ontologies with MAGI2: view

Pathways for MAGI2 Gene

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

Pathways by source for MAGI2 Gene

2 Reactome pathways for MAGI2 Gene

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 --
GO:0008285 negative regulation of cell proliferation ISS --
GO:0010976 positive regulation of neuron projection development ISS --
genes like me logo Genes that share ontologies with MAGI2: view

Compounds for MAGI2 Gene

(1) Novoseek inferred chemical compound relationships for MAGI2 Gene

Compound -log(P) Hits PubMed IDs
guanylate 72.3 6
genes like me logo Genes that share compounds with MAGI2: view

Transcripts for MAGI2 Gene

mRNA/cDNA for MAGI2 Gene

(14) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(10) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MAGI2 Gene

Membrane associated guanylate kinase, WW and PDZ domain containing 2:
Representative Sequences:

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

No ASD Table

Relevant External Links for MAGI2 Gene

GeneLoc Exon Structure for
MAGI2
ECgene alternative splicing isoforms for
MAGI2

Expression for MAGI2 Gene

mRNA expression in normal human tissues for MAGI2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MAGI2 Gene

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.
genes like me logo Genes that share expressions with MAGI2: view

No data available for mRNA differential expression in normal tissues 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 35
  • 99.2 (n)
  • 99.18 (a)
MAGI2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MAGI2 35
  • 91.84 (n)
  • 94.69 (a)
dog
(Canis familiaris)
Mammalia MAGI2 35
  • 94.04 (n)
  • 98.67 (a)
MAGI2 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Magi2 35
  • 93.12 (n)
  • 98.61 (a)
Magi2 16
Magi2 36
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MAGI2 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 79 (a)
OneToMany
-- 36
  • 91 (a)
OneToMany
-- 36
  • 92 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Magi2 35
  • 92.12 (n)
  • 97.96 (a)
chicken
(Gallus gallus)
Aves MAGI2 35
  • 85.45 (n)
  • 91.7 (a)
MAGI2 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MAGI2 36
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.7307 35
zebrafish
(Danio rerio)
Actinopterygii magi2 35
  • 68.11 (n)
  • 74.09 (a)
magi2 36
  • 68 (a)
OneToMany
MAGI2 (2 of 2) 36
  • 70 (a)
OneToMany
wufb82g11 35
fruit fly
(Drosophila melanogaster)
Insecta Magi 36
  • 28 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea magi-1 35
  • 49.82 (n)
  • 44.41 (a)
magi-1 36
  • 33 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 42 (a)
OneToMany
Species with no ortholog for MAGI2:
  • 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)

Paralogs for MAGI2 Gene

Paralogs for MAGI2 Gene

Selected SIMAP similar genes for MAGI2 Gene using alignment to 5 proteins:

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

Variants for MAGI2 Gene

Sequence variations from dbSNP and Humsavar for MAGI2 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs9687 -- 78,017,261(-) GTTAG(A/C)TGTGA utr-variant-3-prime
rs16690 -- 78,477,121(+) AACTT(-/GTC)TATAT intron-variant
rs17505 -- 78,932,476(+) agttc(C/T)gtact intron-variant
rs22535 -- 78,603,136(+) CAGAA(A/T)TACTG intron-variant
rs22536 -- 78,603,167(+) TAATG(G/T)AAAGT intron-variant

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

Variant ID Type Subtype PubMed ID
esv274905 CNV Loss 21479260
esv2666550 CNV Deletion 23128226
esv268080 CNV Insertion 20981092
nsv437550 CNV Loss 16327808
nsv818524 CNV Loss 17921354
nsv521622 CNV Loss 19592680
nsv5802 CNV Insertion 18451855
esv2734707 CNV Deletion 23290073
esv2734708 CNV Deletion 23290073
esv2734709 CNV Deletion 23290073
esv7615 CNV Gain 19470904
nsv519260 CNV Gain 19592680
nsv517924 CNV Loss 19592680
esv2407744 CNV Deletion 18987734
esv5222 CNV Deletion 18987735
esv2734710 CNV Deletion 23290073
esv8611 CNV Loss 19470904
esv996600 CNV Deletion 20482838
esv1783865 CNV Deletion 17803354
nsv507397 CNV Insertion 20534489
esv2734711 CNV Deletion 23290073
esv33014 CNV Loss 17666407
nsv522955 CNV Loss 19592680
esv2734712 CNV Deletion 23290073
esv2734713 CNV Deletion 23290073
esv2047769 CNV Deletion 18987734
esv271846 CNV Insertion 20981092
esv1445467 CNV Insertion 17803354
esv2734714 CNV Deletion 23290073
esv2734715 CNV Deletion 23290073
esv2734716 CNV Deletion 23290073
esv2734718 CNV Deletion 23290073
nsv888509 CNV Loss 21882294
esv28012 CNV Loss 19812545
esv2665691 CNV Deletion 23128226
nsv365848 CNV Loss 16902084
esv2734719 CNV Deletion 23290073
esv9717 CNV Loss 19470904
esv2660614 CNV Deletion 23128226
nsv527106 CNV Loss 19592680
esv2670414 CNV Deletion 23128226
nsv471642 CNV Loss 15918152
esv2734720 CNV Deletion 23290073
nsv831040 CNV Gain 17160897
nsv521257 CNV Loss 19592680
nsv5803 CNV Insertion 18451855
nsv366172 CNV Loss 16902084
esv271233 CNV Insertion 20981092
esv25735 CNV Gain 19812545
nsv5804 CNV Insertion 18451855
esv2657048 CNV Deletion 23128226
nsv888510 CNV Gain 21882294
nsv5805 CNV Insertion 18451855
nsv5806 CNV Loss 18451855
nsv888511 CNV Loss 21882294
dgv131n17 CNV Loss 16327808
dgv2110e1 CNV Complex 17122850
dgv2111e1 CNV Complex 17122850
nsv437553 CNV Loss 16327808
nsv8168 CNV Loss 18304495
nsv499658 CNV Loss 21111241
esv2671558 CNV Deletion 23128226
esv25287 CNV Loss 19812545
nsv514427 CNV Loss 21397061
esv2421751 CNV Deletion 20811451
nsv442003 CNV CNV 18776908
nsv437988 CNV Loss 16468122
nsv464599 CNV Loss 19166990
nsv470332 CNV Loss 18288195
nsv517007 CNV Loss 19592680
nsv818525 CNV Loss 17921354
nsv433238 CNV Loss 18776910
nsv888512 CNV Loss 21882294
nsv831041 CNV Gain+Loss 17160897
esv2734721 CNV Deletion 23290073
nsv437555 CNV Loss 16327808
esv2467595 CNV Deletion 19546169
nsv517349 CNV Loss 19592680
nsv464600 CNV Loss 19166990
nsv888513 CNV Loss 21882294
nsv888514 CNV Loss 21882294
nsv888515 CNV Loss 21882294
esv273828 CNV Insertion 20981092
nsv5807 CNV Insertion 18451855

Relevant External Links for MAGI2 Gene

HapMap Linkage Disequilibrium report
MAGI2
Human Gene Mutation Database (HGMD)
MAGI2

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

Disorders for MAGI2 Gene

(1) MalaCards Diseases for MAGI2 Gene

Search for MAGI2 Gene in MalaCards »

(1) University of Copenhagen DISEASES for MAGI2 Gene

Relevant External Links for MAGI2

Genetic Association Database (GAD)
MAGI2
Human Genome Epidemiology (HuGE) Navigator
MAGI2
genes like me logo Genes that share disorders with MAGI2: view

No data available for UniProtKB/Swiss-Prot 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 Y.E. (Proc. Natl. Acad. Sci. U.S.A. 2000) 3 4 23
  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 Res. 1998) 2 3 4
  3. beta 1-adrenergic receptor association with the synaptic scaffolding protein membrane-associated guanylate kinase inverted-2 (MAGI-2). Differential regulation of receptor internalization by MAGI-2 and PSD-95. (PMID: 11526121) Xu J. … Hall R.A. (J. Biol. Chem. 2001) 3 23
  4. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer S.W. … Tsui L.-C. (Science 2003) 3 4
  5. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier L.W. … Wilson R.K. (Nature 2003) 3 4

Products for MAGI2 Gene

Sources for MAGI2 Gene

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