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    Mdga2 MAM domain containing glycosylphosphatidylinositol anchor 2 [ Mus musculus (house mouse) ]

    Gene ID: 320772, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Mdga2provided by MGI
    Official Full Name
    MAM domain containing glycosylphosphatidylinositol anchor 2provided by MGI
    Primary source
    MGI:MGI:2444706
    See related
    Ensembl:ENSMUSG00000034912 AllianceGenome:MGI:2444706
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Adp; Mamdc1; 6720489L24Rik; 9330209L04Rik; Tg(Prnp-PFN1*G118V)838Kiaei
    Summary
    Involved in regulation of presynapse assembly and regulation of synaptic membrane adhesion. Acts upstream of or within several processes, including motor behavior; negative regulation of neuron apoptotic process; and neuron migration. Is active in GABA-ergic synapse and glutamatergic synapse. Is expressed in cortical plate. Used to study amyotrophic lateral sclerosis type 18. Orthologous to human MDGA2 (MAM domain containing glycosylphosphatidylinositol anchor 2). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in CNS E18 (RPKM 2.1), cortex adult (RPKM 1.5) and 7 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Mdga2 in Genome Data Viewer
    Location:
    12 C2; 12 27.63 cM
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (66512832..67269323, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (66459419..67222549, complement)

    Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_32340 Neighboring gene ribosomal protein L10-like Neighboring gene STARR-seq mESC enhancer starr_32341 Neighboring gene predicted gene, 51994 Neighboring gene eukaryotic translation elongation factor 1 gamma pseudogene Neighboring gene STARR-seq mESC enhancer starr_32342 Neighboring gene STARR-seq mESC enhancer starr_32343 Neighboring gene predicted gene, 23826 Neighboring gene predicted gene, 51968 Neighboring gene family with sequence similarity 20, member B pseudogene Neighboring gene STARR-seq mESC enhancer starr_32345 Neighboring gene ribosomal protein L17, pseudogene 3 Neighboring gene nuclear encoded rRNA 5S 60

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Early postnatal development of the MDGA2(+/-) mouse model of synaptic dysfunction. Fertan E, et al. Behav Brain Res, 2023 Aug 24. PMID 37499910
    2. Mitoautophagy: A Unique Self-Destructive Path Mitochondria of Upper Motor Neurons With TDP-43 Pathology Take, Very Early in ALS. Gautam M, et al. Front Cell Neurosci, 2019. PMID 31787882, Free PMC Article
    3. Transgene insertion in intronic sequences of Mdga2 gene shows methylation in an imprinted manner in an Acrodysplasia (Adp) mouse line. Suzuki M, et al. Biochem Biophys Res Commun, 2012 Feb 17. PMID 22281501
    4. A transgene insertional mutation at an imprinted locus in the mouse genome. DeLoia JA, et al. Dev Suppl, 1990. PMID 2090433
    5. A chimaeric mouse model for autosomal-dominant polycystic kidney disease. Boulter CA, et al. Contrib Nephrol, 1992. PMID 1633717

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Early postnatal development of the MDGA2[+/-] mouse model of synaptic dysfunction.
      Title: Early postnatal development of the MDGA2(+/-) mouse model of synaptic dysfunction.
    2. results suggest that mutations in MDGA2 contribute to altered cortical processing through the dual disadvantages of elevated excitation and hyperconnectivity.
      Title: Altered Cortical Dynamics and Cognitive Function upon Haploinsufficiency of the Autism-Linked Excitatory Synaptic Suppressor MDGA2.
    3. The neuronal migration deficit caused by loss of Laf4 can be partially rescued by Mdga2 over-expression, revealing an important functional relationship between these genes in a mouse model of intellectual disability.
      Title: Laf4/Aff3, a gene involved in intellectual disability, is required for cellular migration in the mouse cerebral cortex.
    4. MDGA binding and suppression of synaptogenic activity was selective for neuroligin-2 and not neuroligin-1 excitatory synapse organizer.
      Title: Interaction between autism-linked MDGAs and neuroligins suppresses inhibitory synapse development.
    5. The transgene was inserted into the intronic sequences between exon 3 and exon 4 of the Mdga2 gene;the transgene was highly or under methylated in normal and deformed mice, respectively.
      Title: Transgene insertion in intronic sequences of Mdga2 gene shows methylation in an imprinted manner in an Acrodysplasia (Adp) mouse line.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within gene expression IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within motor behavior IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within negative regulation of neuron apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in nervous system development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within neuromuscular process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within neuron migration IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within pattern specification process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of presynapse assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of presynapse assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of synaptic membrane adhesion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of synaptic membrane adhesion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in GABA-ergic synapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in GABA-ergic synapse IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    is_active_in glutamatergic synapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in glutamatergic synapse IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in side of membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    MAM domain-containing glycosylphosphatidylinositol anchor protein 2
    Names
    MAM domain containing 1
    acrodysplasia

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001193266.1 → NP_001180195.2  MAM domain-containing glycosylphosphatidylinositol anchor protein 2 isoform A precursor

      See identical proteins and their annotated locations for NP_001180195.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (A) represents the longer transcript and encodes the longer isoform (A).
      Source sequence(s)
      AC164164, AK137667
      Consensus CDS
      CCDS56842.2
      UniProtKB/TrEMBL
      A0A217FL82, B2RQF5
      Related
      ENSMUSP00000046761.11, ENSMUST00000037181.16
      Conserved Domains (6) summary
      cd06263
      Location:748 → 919
      MAM; Meprin, A5 protein, and protein tyrosine phosphatase Mu (MAM) domain. MAM is an extracellular domain which mediates protein-protein interactions and is found in a diverse set of proteins, many of which are known to function in cell adhesion. Members ...
      cd00096
      Location:355 → 427
      Ig; Immunoglobulin domain
      smart00408
      Location:256 → 317
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:48 → 128
      IG_like; Immunoglobulin like
      pfam00629
      Location:748 → 921
      MAM; MAM domain, meprin/A5/mu
      pfam13895
      Location:543 → 618
      Ig_2; Immunoglobulin domain

    2. NM_207010.2 → NP_996893.3  MAM domain-containing glycosylphosphatidylinositol anchor protein 2 isoform B precursor

      See identical proteins and their annotated locations for NP_996893.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (B) lacks an in-frame exon in the coding region, compared to variant A. The resulting protein (isoform B) is shorter, compared to isoform A.
      Source sequence(s)
      AC117250, AC125379, AC140249, AC164164
      Consensus CDS
      CCDS25945.1
      UniProtKB/Swiss-Prot
      P60755
      UniProtKB/TrEMBL
      A0A217FL82
      Related
      ENSMUSP00000152613.2, ENSMUST00000223141.2
      Conserved Domains (6) summary
      cd06263
      Location:741 → 912
      MAM; Meprin, A5 protein, and protein tyrosine phosphatase Mu (MAM) domain. MAM is an extracellular domain which mediates protein-protein interactions and is found in a diverse set of proteins, many of which are known to function in cell adhesion. Members ...
      cd00096
      Location:355 → 427
      Ig; Immunoglobulin domain
      smart00408
      Location:256 → 317
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:48 → 128
      IG_like; Immunoglobulin like
      pfam00629
      Location:741 → 914
      MAM; MAM domain, meprin/A5/mu
      pfam13895
      Location:543 → 618
      Ig_2; Immunoglobulin domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000078.7 Reference GRCm39 C57BL/6J

      Range
      66512832..67269323 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006516013.4 → XP_006516076.1  MAM domain-containing glycosylphosphatidylinositol anchor protein 2 isoform X1

      Conserved Domains (3) summary
      smart00408
      Location:27 → 88
      IGc2; Immunoglobulin C-2 Type
      pfam00629
      Location:519 → 691
      MAM; MAM domain, meprin/A5/mu
      cl11960
      Location:222 → 287
      Ig; Immunoglobulin domain

    2. XM_011244127.4 → XP_011242429.1  MAM domain-containing glycosylphosphatidylinositol anchor protein 2 isoform X2

      Conserved Domains (4) summary
      smart00408
      Location:325 → 386
      IGc2; Immunoglobulin C-2 Type
      smart00409
      Location:117 → 197
      IG; Immunoglobulin
      smart00410
      Location:223 → 288
      IG_like; Immunoglobulin like
      cl11960
      Location:418 → 493
      Ig; Immunoglobulin domain

    3. XM_006516014.5 → XP_006516077.1  MAM domain-containing glycosylphosphatidylinositol anchor protein 2 isoform X3

      Conserved Domains (4) summary
      smart00408
      Location:325 → 386
      IGc2; Immunoglobulin C-2 Type
      smart00409
      Location:117 → 197
      IG; Immunoglobulin
      smart00410
      Location:223 → 288
      IG_like; Immunoglobulin like
      cl11960
      Location:418 → 493
      Ig; Immunoglobulin domain

    RNA

    1. XR_872713.2 RNA Sequence

    2. XR_004937519.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P60755.1 GenPept UniProtKB/Swiss-Prot:P60755

    Gene LinkOut

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