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

    Gene ID: 9863, updated on 5-May-2024

    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; AllianceGenome:HGNC:18957
    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]
    Annotation information
    Note: This gene has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s).
    Expression
    Broad expression in brain (RPKM 4.1), thyroid (RPKM 1.2) and 16 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    7q21.11
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (78017055..79453667, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (79268893..80705470, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (77646372..79082983, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901682 Neighboring gene putative homeodomain transcription factor 2 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:77619182-77620381 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr7:77635196-77635696 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:77648359-77648860 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18332 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18333 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:77677051-77677551 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:77703601-77704220 Neighboring gene DDX3 interacting lncRNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:77763787-77764288 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:77764289-77764788 Neighboring gene uncharacterized LOC124901684 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:77875627-77876563 Neighboring gene uncharacterized LOC124901683 Neighboring gene ribosomal protein L13a pseudogene 17 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:78094936-78095436 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:78095437-78095937 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:78127911-78128411 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:78127410-78127910 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:78152989-78153548 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:78192436-78193031 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:78206961-78207460 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:78207790-78208526 Neighboring gene UFC1 pseudogene 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:78416757-78417956 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:78598351-78598852 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 uncharacterized LOC124901823 Neighboring gene RNA, U6 small nuclear 530, pseudogene Neighboring gene Sharpr-MPRA regulatory region 13814 Neighboring gene MAGI2 antisense RNA 3 Neighboring gene uncharacterized LOC105375369 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:79275496-79276123 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 15
    MedGen: C4539896 OMIM: 617609 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables SMAD binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables SMAD binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables beta-1 adrenergic receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables beta-1 adrenergic receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables phosphatase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables signaling receptor complex adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables signaling receptor complex adaptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables type II activin receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables type II activin receptor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in SMAD protein signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to nerve growth factor stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in clathrin-dependent endocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of activin receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of cell population proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in nerve growth factor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in nervous system development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in planar cell polarity pathway involved in axis elongation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in podocyte development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of neuron projection development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of phosphoprotein phosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of receptor internalization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in receptor clustering IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in receptor clustering ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in bicellular tight junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cell-cell junction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in centriole ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in centrosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in ciliary base ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in dendrite IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in dendrite ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in late endosome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in perinuclear region of cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in photoreceptor inner segment ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in photoreceptor outer segment ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in postsynaptic density ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of protein-containing complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in slit diaphragm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in 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)

    NEW Try the new Transcript table

    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/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
      A4D1C1, A7E2C3, O60434, O60510, Q86UI7, Q86UL8, Q9NP44, Q9UDQ5, Q9UDU1
      UniProtKB/TrEMBL
      B7Z4H4
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_047421093.1XP_047277049.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 isoform X10

    2. XM_017012845.3XP_016868334.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 isoform X7

      UniProtKB/TrEMBL
      B7Z4H4
    3. XM_017012846.3XP_016868335.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 isoform X9

      UniProtKB/TrEMBL
      B7Z4H4
    4. XM_011516718.3XP_011515020.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 isoform X6

      UniProtKB/TrEMBL
      B7Z4H4
      Related
      ENSP00000428389.1, ENST00000522391.3
      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
    5. XM_017012841.3XP_016868330.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 isoform X2

      UniProtKB/TrEMBL
      B7Z4H4
    6. XM_017012842.3XP_016868331.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 isoform X3

      UniProtKB/TrEMBL
      B7Z4H4
    7. XM_047421092.1XP_047277048.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 isoform X8

    8. XM_017012843.3XP_016868332.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 isoform X4

      UniProtKB/TrEMBL
      B7Z4H4
    9. XM_017012844.3XP_016868333.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 isoform X5

      UniProtKB/TrEMBL
      B7Z4H4
    10. XM_017012840.3XP_016868329.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 isoform X1

      UniProtKB/TrEMBL
      B7Z4H4
    11. XM_017012847.3XP_016868336.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 isoform X11

      UniProtKB/TrEMBL
      A0A0D9SEY4
      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 ...
    12. XM_011516720.4XP_011515022.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 isoform X11

      See identical proteins and their annotated locations for XP_011515022.1

      UniProtKB/TrEMBL
      A0A0D9SEY4
      Related
      ENSP00000486131.1, ENST00000626691.2
      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_011516728.2XP_011515030.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 isoform X12

      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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      79268893..80705470 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359444.1XP_054215419.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 isoform X10

    2. XM_054359441.1XP_054215416.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 isoform X7

    3. XM_054359443.1XP_054215418.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 isoform X9

    4. XM_054359440.1XP_054215415.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 isoform X6

    5. XM_054359436.1XP_054215411.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 isoform X2

    6. XM_054359437.1XP_054215412.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 isoform X3

    7. XM_054359442.1XP_054215417.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 isoform X8

    8. XM_054359438.1XP_054215413.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 isoform X4

    9. XM_054359439.1XP_054215414.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 isoform X5

    10. XM_054359435.1XP_054215410.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 isoform X1

    11. XM_054359446.1XP_054215421.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 isoform X11

    12. XM_054359445.1XP_054215420.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 isoform X11