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

Gene ID: 320772, updated on 12-Nov-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, Nov 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 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

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