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    PNMA2 paraneoplastic Ma antigen 2 [ Homo sapiens ]

    Gene ID: 10687, updated on 11-May-2012
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    Summary

    Official Symbol
    PNMA2provided by HGNC
    Official Full Name
    paraneoplastic Ma antigen 2provided by HGNC
    Primary source
    HGNC:9159
    See related
    Ensembl:ENSG00000240694; MIM:603970; Vega:OTTHUMG00000163816
    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
    MA2; MM2; RGAG2; KIAA0883
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    Genomic context

    Location :
    8p21.2
    Sequence :
    Chromosome: 8; NC_000008.10 (26362196..26371483, complement)
    See PNMA2 in Epigenomics, MapViewer

    Chromosome 8 - NC_000008.10Genomic Context describing neighboring genes Neighboring gene BCL2/adenovirus E1B 19kDa interacting protein 3-like Neighboring gene dnaJ homolog subfamily B member 6-like Neighboring gene dihydropyrimidinase-like 2 Neighboring gene proteasome activator subunit 2 pseudogene 5 Neighboring gene adrenoceptor alpha 1A Neighboring gene ribosomal protein, large, P1 pseudogene 9

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. Wagner SA, et al. Mol Cell Proteomics, 2011 Oct. PMID 21890473.
    2. Decreased D2-40 and increased p16INK4A immunoreactivities correlate with higher grade of cervical intraepithelial neoplasia. Han H, et al. Diagn Pathol, 2011 Jul 5. PMID 21729305.
    3. Paraneoplastic antigen Ma2 autoantibodies as specific blood biomarkers for detection of early recurrence of small intestine neuroendocrine tumors. Cui T, et al. PLoS One, 2010 Dec 30. PMID 21209860.
    4. Mammalian BTBD12/SLX4 assembles a Holliday junction resolvase and is required for DNA repair. Svendsen JM, et al. Cell, 2009 Jul 10. PMID 19596235.
    5. Systematic identification of SH3 domain-mediated human protein-protein interactions by peptide array target screening. Wu C, et al. Proteomics, 2007 Jun. PMID 17474147.

    See all (18) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Immunohistochemical analysis of MA2/D2-40 combined with p16(INK4A) may have a significant implication in clinical practice for better identifying the grade of cervical intraepithelial neoplasia.
      Title: Decreased D2-40 and increased p16INK4A immunoreactivities correlate with higher grade of cervical intraepithelial neoplasia.
    2. Ma2 may have a role in early recurrence of small intestine neuroendocrine tumors
      Title: Paraneoplastic antigen Ma2 autoantibodies as specific blood biomarkers for detection of early recurrence of small intestine neuroendocrine tumors.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    BioGRID:115926 BioGRID:121313 CTNNBIP1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:115926 BioGRID:121760 MARK4    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:115926 BioGRID:121134 PARD3    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:115926 BioGRID:124135 PARD6G    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:115926 BioGRID:114667 PNMA1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:115926 BioGRID:124097 SLX4    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:115926 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:115926 BioGRID:113366 YWHAZ    BioGRID  PubMed Affinity Capture-MS 
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    General gene information

    Markers

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    apoptotic process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    nucleolus IEA
    Inferred from Electronic Annotation
    more info
    		  
    nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    paraneoplastic antigen Ma2
    Names
    paraneoplastic antigen Ma2
    40 kDa neuronal protein
    onconeuronal antigen MA2
    paraneoplastic neuronal antigen MM2
    retrotransposon gag domain containing 2
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    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.

    mRNA and Protein(s)

    1. NM_007257.5 → NP_009188.1  paraneoplastic antigen Ma2

      Status: VALIDATED

      Source sequence(s)
      AA025092, AB020690, BC036489, BC047515, DA779744
      Consensus CDS
      CCDS34868.1
      UniProtKB/TrEMBL
      Q5U5Z3
      UniProtKB/Swiss-Prot
      Q9UL42
      Related
      ENSP00000429344, OTTHUMP00000225004, ENST00000522362, OTTHUMT00000375709
      Conserved Domains (2) summary
      pfam03732
      Location:207 – 279
      Blast Score: 86
      Retrotrans_gag; Retrotransposon gag protein
      cl14876
      Location:5 – 47
      Blast Score: 87
      Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42.

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000008.10 Reference GRCh37.p5 Primary Assembly

      Range
      26362196..26371483, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000140.1 Alternate HuRef

      Range
      24907036..24916314, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC015743.9 (56567..65796) None
    genomic CH471080.2 EAW63575.1
    mRNA AA025092.1 None
    mRNA AB020690.1 BAA74906.2
    mRNA AF037365.1 AAD02098.1
    mRNA AF083114.1 AAF05625.1
    mRNA AF083115.1 AAF05626.1
    mRNA AK055325.1 BAG51501.1
    mRNA BC036489.1 AAH36489.1
    mRNA BC047515.1 AAH47515.1
    mRNA BC062301.1 AAH62301.1
    mRNA DA779744.1 None
    other-genetic HQ447669.1 ADQ32154.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5U5Z3 GenPept UniProtKB/TrEMBL:Q5U5Z3
    Q9UL42.2 GenPept UniProtKB/Swiss-Prot:Q9UL42
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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