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    PABPC1P2 poly(A) binding protein cytoplasmic 1 pseudogene 2 [ Homo sapiens (human) ]

    Gene ID: 728773, updated on 10-Dec-2024

    Summary

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    Official Symbol
    PABPC1P2provided by HGNC
    Official Full Name
    poly(A) binding protein cytoplasmic 1 pseudogene 2provided by HGNC
    Primary source
    HGNC:HGNC:8559
    See related
    AllianceGenome:HGNC:8559
    Gene type
    pseudo
    RefSeq status
    PROVISIONAL
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PABP2; PABP4; PABPCP2; PABPCP4
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    Genomic context

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    See PABPC1P2 in Genome Data Viewer
    Location:
    2q22.3
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (146587057..146590990)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (147037225..147041157)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (147344625..147348558)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373667 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:147149519-147150020 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:147163533-147164109 Neighboring gene VISTA enhancer hs609 Neighboring gene OTX2 pseudogene 2 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:147296950-147297579 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:147297580-147298210 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:147298211-147298839 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:147299356-147299867 Neighboring gene uncharacterized LOC124907895 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:147391420-147392619 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:147578911-147579522 Neighboring gene nipsnap homolog 2 pseudogene Neighboring gene long intergenic non-protein coding RNA 1911

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Nuclear accumulation of expanded PABP2 gene product in oculopharyngeal muscular dystrophy. Uyama E, et al. Muscle Nerve, 2000 Oct. PMID 11003790
    2. Unequal crossing-over in unique PABP2 mutations in Japanese patients: a possible cause of oculopharyngeal muscular dystrophy. Nakamoto M, et al. Arch Neurol, 2002 Mar. PMID 11890856
    3. Human testis expresses a specific poly(A)-binding protein. Féral C, et al. Nucleic Acids Res, 2001 May 1. PMID 11328870, Free PMC Article
    4. The expression of poly(A)-binding protein gene is translationally regulated in a growth-dependent fashion through a 5'-terminal oligopyrimidine tract motif. Hornstein E, et al. J Biol Chem, 1999 Jan 15. PMID 9880551
    5. Chromosomal localization of three human poly(A)-binding protein genes and four related pseudogenes. Féral C, et al. Hum Genet, 1999 Oct. PMID 10543404, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Autosomal dominant oculopharyngeal muscular dystrophy (OPMD) is an adult-onset disease caused by (GCG) repeat expansions in exon 1 of the poly(A) binding protein 2 gene (PABP2)
      Title: Nuclear accumulation of expanded PABP2 gene product in oculopharyngeal muscular dystrophy.
    2. Unequal crossing-over in unique PABP2 mutations in Japanese patients: a possible cause of oculopharyngeal muscular dystrophy.
      Title: Unequal crossing-over in unique PABP2 mutations in Japanese patients: a possible cause of oculopharyngeal muscular dystrophy.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    General gene information

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    Markers

    Other Names

    • poly(A) binding protein, cytoplasmic, pseudogene 2
    • poly(A) binding protein, cytoplasmic, pseudogene 4

    Clone Names

    • MGC51329

    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.

    RNA

    1. NR_026904.1 RNA Sequence

      Status: PROVISIONAL

      Source sequence(s)
      AC093113

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      146587057..146590990
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      147037225..147041157
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NG_001267.2: Suppressed sequence

      Description
      NG_001267.2: This RefSeq was suppressed permanently because current evidence indicates that this locus is transcribed.
    Nucleotide Protein
    Heading Accession and Version

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