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    PNMA2 PNMA family member 2 [ Homo sapiens (human) ]

    Gene ID: 10687, updated on 3-Dec-2024

    Summary

    Official Symbol
    PNMA2provided by HGNC
    Official Full Name
    PNMA family member 2provided by HGNC
    Primary source
    HGNC:HGNC:9159
    See related
    Ensembl:ENSG00000240694 MIM:603970; AllianceGenome:HGNC:9159
    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
    Summary
    Predicted to be involved in positive regulation of apoptotic process. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in brain (RPKM 63.2), adrenal (RPKM 6.1) and 1 other tissue See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See PNMA2 in Genome Data Viewer
    Location:
    8p21.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (26504701..26513872, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (26781276..26790451, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (26362217..26371388, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27127 Neighboring gene DNAJB6 pseudogene 2 Neighboring gene vegetative cell wall protein gp1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19040 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19041 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19042 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27128 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:26346103-26346626 Neighboring gene Sharpr-MPRA regulatory region 13991 Neighboring gene dihydropyrimidinase like 2 Neighboring gene proteasome activator subunit 2 pseudogene 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27129 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:26433901-26434598 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:26434599-26435296 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:26435598-26436492 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:26436493-26437387 Neighboring gene uncharacterized LOC124901916 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:26448723-26449328 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19045

    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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0883

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in nucleolus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

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

    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_007257.6NP_009188.1  paraneoplastic antigen Ma2

      See identical proteins and their annotated locations for NP_009188.1

      Status: VALIDATED

      Source sequence(s)
      AB020690, BC036489, BC047515, DA779744
      Consensus CDS
      CCDS34868.1
      UniProtKB/Swiss-Prot
      B3KNY9, O94959, O95145, Q49A18, Q9UL42, Q9UL43
      UniProtKB/TrEMBL
      Q5U5Z3
      Related
      ENSP00000429344.1, ENST00000522362.7
      Conserved Domains (1) summary
      pfam14893
      Location:1327
      PNMA; PNMA

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      26504701..26513872 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011544365.4XP_011542667.1  paraneoplastic antigen Ma2 isoform X1

      See identical proteins and their annotated locations for XP_011542667.1

      UniProtKB/Swiss-Prot
      B3KNY9, O94959, O95145, Q49A18, Q9UL42, Q9UL43
      UniProtKB/TrEMBL
      Q5U5Z3
      Conserved Domains (1) summary
      pfam14893
      Location:1327
      PNMA; PNMA

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      26781276..26790451 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359596.1XP_054215571.1  paraneoplastic antigen Ma2 isoform X1

      UniProtKB/Swiss-Prot
      B3KNY9, O94959, O95145, Q49A18, Q9UL42, Q9UL43
      UniProtKB/TrEMBL
      Q5U5Z3