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    MDGA2 MAM domain containing glycosylphosphatidylinositol anchor 2 [ Homo sapiens (human) ]

    Gene ID: 161357, updated on 3-Apr-2024

    Summary

    Official Symbol
    MDGA2provided by HGNC
    Official Full Name
    MAM domain containing glycosylphosphatidylinositol anchor 2provided by HGNC
    Primary source
    HGNC:HGNC:19835
    See related
    Ensembl:ENSG00000139915 MIM:611128; AllianceGenome:HGNC:19835
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MAMDC1; c14_5286
    Summary
    Predicted to be involved in regulation of presynapse assembly; regulation of synaptic membrane adhesion; and spinal cord motor neuron differentiation. Predicted to act upstream of or within neuron migration and pattern specification process. Predicted to be located in extracellular region and plasma membrane. Predicted to be active in GABA-ergic synapse and glutamatergic synapse. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in brain (RPKM 1.3) and testis (RPKM 0.6) See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See MDGA2 in Genome Data Viewer
    Location:
    14q21.3
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (46839623..47675605, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (41038514..41874449, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (47308826..48144808, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903309 Neighboring gene uncharacterized LOC105370480 Neighboring gene uncharacterized LOC105370481 Neighboring gene MPRA-validated peak2148 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr14:47215033-47215240 Neighboring gene ribosomal protein L10 like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8308 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:47287501-47288032 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:47354646-47355845 Neighboring gene MPRA-validated peak2151 silencer Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:47572669-47573230 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:47573231-47573790 Neighboring gene replication protein A2 pseudogene 1 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:47577386-47578367 Neighboring gene MPRA-validated peak2152 silencer Neighboring gene ribosomal protein L13a pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5695 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:47769492-47770691 Neighboring gene NANOG hESC enhancer GRCh37_chr14:47858750-47859440 Neighboring gene ribosomal protein S15a pseudogene 3 Neighboring gene NANOG hESC enhancer GRCh37_chr14:48005441-48006008 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:48034589-48035090 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:48035091-48035590 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:48088147-48089346 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:48145545-48146044 Neighboring gene kinesin family member 20B pseudogene Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr14:48263841-48264342 Neighboring gene long intergenic non-protein coding RNA 648 Neighboring gene microRNA 548y

    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

    EBI GWAS Catalog

    Description
    Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study.
    EBI GWAS Catalog
    Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis.
    EBI GWAS Catalog
    Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study.
    EBI GWAS Catalog
    Genome-wide association study of SSRI/SNRI-induced sexual dysfunction in a Japanese cohort with major depression.
    EBI GWAS Catalog
    Genomewide association analysis followed by a replication study implicates a novel candidate gene for neuroticism.
    EBI GWAS Catalog
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in nervous system development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in spinal cord motor neuron differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in side of membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

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

    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.

    mRNA and Protein(s)

    1. NM_001113498.3NP_001106970.4  MAM domain-containing glycosylphosphatidylinositol anchor protein 2 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AL157792, AL162551, AL358832, AL359951, AL591771
      Consensus CDS
      CCDS45098.4
      UniProtKB/Swiss-Prot
      F6W3S7, J3KPX6, Q7Z553
      Related
      ENSP00000382178.4, ENST00000399232.8
      Conserved Domains (6) summary
      smart00408
      Location:325386
      IGc2; Immunoglobulin C-2 Type
      smart00409
      Location:117197
      IG; Immunoglobulin
      pfam00629
      Location:817989
      MAM; MAM domain, meprin/A5/mu
      pfam13927
      Location:510587
      Ig_3; Immunoglobulin domain
      cd00096
      Location:511514
      Ig; Ig strand A [structural motif]
      cl11960
      Location:418493
      Ig; Immunoglobulin domain
    2. NM_182830.4NP_878250.2  MAM domain-containing glycosylphosphatidylinositol anchor protein 2 isoform 2

      See identical proteins and their annotated locations for NP_878250.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and has multiple 5' coding region differences, compared to variant 1. These differences cause translation initiation at a downstream AUG and an isoform (2) with a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AL591771, AY369208, BC028193, DB095976
      Consensus CDS
      CCDS41948.1
      Conserved Domains (6) summary
      cd06263
      Location:519690
      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:126198
      Ig; Immunoglobulin domain
      smart00408
      Location:2788
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:222307
      IG_like; Immunoglobulin like
      pfam00629
      Location:519692
      MAM; MAM domain, meprin/A5/mu
      pfam13895
      Location:314389
      Ig_2; Immunoglobulin domain

    RNA

    1. NR_103766.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has multiple differences compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL359951, BC028193, DB095976
      Related
      ENST00000482848.7

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      46839623..47675605 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011536519.3XP_011534821.1  MAM domain-containing glycosylphosphatidylinositol anchor protein 2 isoform X1

      UniProtKB/Swiss-Prot
      F6W3S7, J3KPX6, Q7Z553
      Conserved Domains (6) summary
      cd06263
      Location:772943
      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:379451
      Ig; Immunoglobulin domain
      smart00408
      Location:280341
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:72152
      IG_like; Immunoglobulin like
      pfam00629
      Location:772945
      MAM; MAM domain, meprin/A5/mu
      pfam13895
      Location:567642
      Ig_2; Immunoglobulin domain
    2. XM_047431048.1XP_047287004.1  MAM domain-containing glycosylphosphatidylinositol anchor protein 2 isoform X2

      Related
      ENSP00000349925.3, ENST00000357362.7
    3. XM_047431049.1XP_047287005.1  MAM domain-containing glycosylphosphatidylinositol anchor protein 2 isoform X2

    4. XM_047431050.1XP_047287006.1  MAM domain-containing glycosylphosphatidylinositol anchor protein 2 isoform X2

    5. XM_017021060.2XP_016876549.1  MAM domain-containing glycosylphosphatidylinositol anchor protein 2 isoform X4

      UniProtKB/Swiss-Prot
      Q7Z553
      Conserved Domains (5) summary
      cd06263
      Location:363534
      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 ...
      smart00408
      Location:72137
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:66151
      IG_like; Immunoglobulin like
      pfam00629
      Location:363536
      MAM; MAM domain, meprin/A5/mu
      pfam13895
      Location:158233
      Ig_2; Immunoglobulin domain
    6. XM_011536525.3XP_011534827.1  MAM domain-containing glycosylphosphatidylinositol anchor protein 2 isoform X7

      Conserved Domains (5) summary
      cd06263
      Location:308479
      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 ...
      smart00408
      Location:1782
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:1196
      IG_like; Immunoglobulin like
      pfam00629
      Location:308481
      MAM; MAM domain, meprin/A5/mu
      pfam13895
      Location:103178
      Ig_2; Immunoglobulin domain
    7. XM_011536522.4XP_011534824.1  MAM domain-containing glycosylphosphatidylinositol anchor protein 2 isoform X3

      Conserved Domains (3) summary
      cd00096
      Location:424496
      Ig; Immunoglobulin domain
      smart00408
      Location:325386
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:117197
      IG_like; Immunoglobulin like
    8. XM_047431051.1XP_047287007.1  MAM domain-containing glycosylphosphatidylinositol anchor protein 2 isoform X5

    9. XM_017021061.3XP_016876550.1  MAM domain-containing glycosylphosphatidylinositol anchor protein 2 isoform X6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      41038514..41874449 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375504.1XP_054231479.1  MAM domain-containing glycosylphosphatidylinositol anchor protein 2 isoform X1

    2. XM_054375505.1XP_054231480.1  MAM domain-containing glycosylphosphatidylinositol anchor protein 2 isoform X2

    3. XM_054375506.1XP_054231481.1  MAM domain-containing glycosylphosphatidylinositol anchor protein 2 isoform X2

    4. XM_054375507.1XP_054231482.1  MAM domain-containing glycosylphosphatidylinositol anchor protein 2 isoform X2

    5. XM_054375509.1XP_054231484.1  MAM domain-containing glycosylphosphatidylinositol anchor protein 2 isoform X4

    6. XM_054375512.1XP_054231487.1  MAM domain-containing glycosylphosphatidylinositol anchor protein 2 isoform X7

    7. XM_054375508.1XP_054231483.1  MAM domain-containing glycosylphosphatidylinositol anchor protein 2 isoform X3

    8. XM_054375510.1XP_054231485.1  MAM domain-containing glycosylphosphatidylinositol anchor protein 2 isoform X5

    9. XM_054375511.1XP_054231486.1  MAM domain-containing glycosylphosphatidylinositol anchor protein 2 isoform X6