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

Gene ID: 9863, updated on 4-Jan-2019

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 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (78017055..79453574, 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 FunctionsWhat'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

Pathways from BioSystems

  • Cell-Cell communication, organism-specific biosystem (from REACTOME)
    Cell-Cell communication, organism-specific biosystemCell-to-Cell communication is crucial for multicellular organisms because it allows organisms to coordinate the activity of their cells. Some cell-to-cell communication requires direct cell-cell cont...
  • Nephrin interactions, organism-specific biosystem (from REACTOME)
    Nephrin interactions, organism-specific biosystemNephrin is a member of the Super-IgG-Molecule family and is most prominently expressed in kidney podocytes. It is a major if not the most important structural component of the slit diaphragm, a modif...
  • Pathways Affected in Adenoid Cystic Carcinoma, organism-specific biosystem (from WikiPathways)
    Pathways Affected in Adenoid Cystic Carcinoma, organism-specific biosystemProtein pathways altered by mutations in adenoid cystic carcinoma. Pathways include epigentic modification, DNA damage checkpoint signals, MYB/MYC signalling pathway, FGF/IGF/PI3K signalling, and not...
  • Rap1 signaling pathway, organism-specific biosystem (from KEGG)
    Rap1 signaling pathway, organism-specific biosystemRap1 is a small GTPase that controls diverse processes, such as cell adhesion, cell-cell junction formation and cell polarity. Like all G proteins, Rap1 cycles between an inactive GDP-bound and an ac...
  • Rap1 signaling pathway, conserved biosystem (from KEGG)
    Rap1 signaling pathway, conserved biosystemRap1 is a small GTPase that controls diverse processes, such as cell adhesion, cell-cell junction formation and cell polarity. Like all G proteins, Rap1 cycles between an inactive GDP-bound and an ac...

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
 
protein heterooligomerization ISS
Inferred from Sequence or Structural Similarity
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
    5001..1441518
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001301128.1NP_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, 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, ENST00000354212.8
    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 Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    78017055..79453574 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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