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

Gene ID: 728773, updated on 17-Sep-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)

Genotypes

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

Gene LinkOut

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Chemical Information
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