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    MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 9863, updated on 7-Jun-2020

    Summary

    Official Symbol
    MAGI2provided by HGNC
    Official Full Name
    membrane associated guanylate kinase, WW and PDZ domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:18957
    See related
    Ensembl:ENSG00000187391 MIM:606382
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AIP1; AIP-1; ARIP1; SSCAM; MAGI-2; NPHS15; ACVRIP1
    Summary
    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]
    Expression
    Broad expression in brain (RPKM 4.1), thyroid (RPKM 1.2) and 16 other tissues See more
    Orthologs

    Genomic context

    See MAGI2 in Genome Data Viewer
    Location:
    7q21.11
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    109.20200522 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (78017055..79453667, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (77646374..79083121, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene putative homeodomain transcription factor 2 Neighboring gene uncharacterized LOC105375368 Neighboring gene ribosomal protein L13a pseudogene 17 Neighboring gene ubiquitin-fold modifier conjugating enzyme 1 pseudogene Neighboring gene MAGI2 antisense RNA 2 Neighboring gene RNA, U6 small nuclear 337, pseudogene Neighboring gene heterogeneous nuclear ribonucleoprotein A3 pseudogene Neighboring gene uncharacterized LOC105375366 Neighboring gene RNA, U6 small nuclear 530, pseudogene Neighboring gene MAGI2 antisense RNA 3 Neighboring gene uncharacterized LOC105375369 Neighboring gene nucleoporin 35 pseudogene 2 Neighboring gene RNA, 5S ribosomal pseudogene 234

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Nephrotic syndrome type 15
    MedGen: C4539896 OMIM: 617609 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide association study (GWAS) for bronchopulmonary dysplasia.
    NHGRI GWA Catalog
    Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
    NHGRI GWA Catalog
    Genome-wide association study identifies germline polymorphisms associated with relapse of childhood acute lymphoblastic leukemia.
    NHGRI GWA Catalog
    Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk.
    NHGRI GWA Catalog
    Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.
    NHGRI GWA Catalog
    Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease.
    NHGRI GWA Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog
    Pharmacogenomic study of side-effects for antidepressant treatment options in STAR*D.
    NHGRI GWA Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    SMAD binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    SMAD binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    beta-1 adrenergic receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    beta-1 adrenergic receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    phosphatase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    receptor signaling complex scaffold activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    receptor signaling complex scaffold activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    type II activin receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    type II activin receptor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    SMAD protein signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to nerve growth factor stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    glomerular visceral epithelial cell development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    mitotic cell cycle arrest ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of activin receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of protein kinase B signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nerve growth factor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    neuroligin clustering involved in postsynaptic membrane assembly IEA
    Inferred from Electronic Annotation
    more info
     
    planar cell polarity pathway involved in axis elongation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    positive regulation of neuron projection development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of phosphoprotein phosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of receptor internalization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of synaptic vesicle clustering IEA
    Inferred from Electronic Annotation
    more info
     
    receptor clustering IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    receptor clustering ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    bicellular tight junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell-cell junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    dendrite IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    dendrite ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    late endosome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    perinuclear region of cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    postsynaptic density ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein-containing complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    slit diaphragm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    synapse ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2
    Names
    activin receptor interacting protein 1
    atrophin-1-interacting protein 1
    atrophin-1-interacting protein A
    membrane-associated guanylate kinase inverted 2

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011487.2 RefSeqGene

      Range
      4908..1441520
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001301128.2NP_001288057.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 isoform 2

      See identical proteins and their annotated locations for NP_001288057.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
      Source sequence(s)
      AA448362, AA890379, AB014605, AC004808, AC004945, AC004990, AF038563, AK297353, Z19922
      Consensus CDS
      CCDS75623.1
      UniProtKB/Swiss-Prot
      Q86UL8
      UniProtKB/TrEMBL
      B7Z4H4
      Related
      ENSP00000405766.1, ENST00000419488.5
      Conserved Domains (6) summary
      smart00072
      Location:118291
      GuKc; Guanylate kinase homologues
      smart00228
      Location:761847
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      cd00201
      Location:305335
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      cd00992
      Location:11321212
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      pfam00397
      Location:350379
      WW; WW domain
      pfam16666
      Location:682756
      MAGI_u5; Unstructured region on MAGI
    2. NM_012301.4NP_036433.2  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 isoform 1

      See identical proteins and their annotated locations for NP_036433.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AA448362, AB014605, AC004808, AC004945, AC004990, AC007237, AF038563
      Consensus CDS
      CCDS5594.1
      UniProtKB/Swiss-Prot
      Q86UL8
      Related
      ENSP00000346151.4, ENST00000354212.9
      Conserved Domains (6) summary
      smart00072
      Location:118291
      GuKc; Guanylate kinase homologues
      smart00228
      Location:775861
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      cd00201
      Location:305335
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      cd00992
      Location:11461226
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      pfam00397
      Location:350379
      WW; WW domain
      pfam16666
      Location:682756
      MAGI_u5; Unstructured region on MAGI

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

      Range
      78017055..79453667 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017012845.2XP_016868334.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 isoform X7

    2. XM_017012846.2XP_016868335.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 isoform X8

    3. XM_011516718.2XP_011515020.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 isoform X6

      Conserved Domains (6) summary
      smart00072
      Location:118291
      GuKc; Guanylate kinase homologues
      smart00228
      Location:775861
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      cd00201
      Location:305335
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      cd00992
      Location:11461226
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      pfam00397
      Location:350379
      WW; WW domain
      pfam16666
      Location:682756
      MAGI_u5; Unstructured region on MAGI
    4. XM_017012841.2XP_016868330.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 isoform X2

    5. XM_017012842.2XP_016868331.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 isoform X3

    6. XM_017012843.2XP_016868332.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 isoform X4

    7. XM_017012844.2XP_016868333.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 isoform X5

    8. XM_017012840.2XP_016868329.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 isoform X1

    9. XM_024447009.1XP_024302777.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 isoform X9

      Conserved Domains (7) summary
      smart00228
      Location:655741
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      cd00201
      Location:142172
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      cd00992
      Location:10261106
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      pfam00397
      Location:187216
      WW; WW domain
      pfam16663
      Location:3596
      MAGI_u1; Unstructured region on MAGI
      pfam16666
      Location:562636
      MAGI_u5; Unstructured region on MAGI
      cl17190
      Location:1128
      NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...
    10. XM_017012849.2XP_016868338.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 isoform X11

    11. XM_017012848.2XP_016868337.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 isoform X10

      Related
      ENSP00000487448.1, ENST00000629359.2
    12. XM_011516719.3XP_011515021.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 isoform X9

      See identical proteins and their annotated locations for XP_011515021.1

      Conserved Domains (7) summary
      smart00228
      Location:655741
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      cd00201
      Location:142172
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      cd00992
      Location:10261106
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      pfam00397
      Location:187216
      WW; WW domain
      pfam16663
      Location:3596
      MAGI_u1; Unstructured region on MAGI
      pfam16666
      Location:562636
      MAGI_u5; Unstructured region on MAGI
      cl17190
      Location:1128
      NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...
    13. XM_017012847.2XP_016868336.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 isoform X9

      Conserved Domains (7) summary
      smart00228
      Location:655741
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      cd00201
      Location:142172
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      cd00992
      Location:10261106
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      pfam00397
      Location:187216
      WW; WW domain
      pfam16663
      Location:3596
      MAGI_u1; Unstructured region on MAGI
      pfam16666
      Location:562636
      MAGI_u5; Unstructured region on MAGI
      cl17190
      Location:1128
      NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...
    14. XM_011516720.3XP_011515022.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 isoform X9

      See identical proteins and their annotated locations for XP_011515022.1

      Conserved Domains (7) summary
      smart00228
      Location:655741
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      cd00201
      Location:142172
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      cd00992
      Location:10261106
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      pfam00397
      Location:187216
      WW; WW domain
      pfam16663
      Location:3596
      MAGI_u1; Unstructured region on MAGI
      pfam16666
      Location:562636
      MAGI_u5; Unstructured region on MAGI
      cl17190
      Location:1128
      NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...
    15. XM_011516726.3XP_011515028.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 isoform X15

      See identical proteins and their annotated locations for XP_011515028.1

      Conserved Domains (3) summary
      smart00228
      Location:427513
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      cd00992
      Location:798878
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      pfam16666
      Location:334408
      MAGI_u5; Unstructured region on MAGI
    16. XM_011516728.1XP_011515030.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 isoform X16

      Conserved Domains (3) summary
      smart00228
      Location:384470
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      cd00992
      Location:755835
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      pfam16666
      Location:291365
      MAGI_u5; Unstructured region on MAGI
    17. XM_017012850.2XP_016868339.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 isoform X12

      Related
      ENSP00000428389.1, ENST00000522391.3
    18. XM_017012851.2XP_016868340.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 isoform X13

    19. XM_017012852.2XP_016868341.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 isoform X14

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