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    GUSBP2 GUSB pseudogene 2 [ Homo sapiens (human) ]

    Gene ID: 387036, updated on 22-Oct-2024

    Summary

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    Official Symbol
    GUSBP2provided by HGNC
    Official Full Name
    GUSB pseudogene 2provided by HGNC
    Primary source
    HGNC:HGNC:18792
    See related
    Ensembl:ENSG00000290474 AllianceGenome:HGNC:18792
    Gene type
    pseudo
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GUSBL1; GUSBP4; SMA3-L; SMAC3L; SMAC3L2; bGLU-Lp; b55C20.1; bA239L20.1; bA239L20.5
    Expression
    Broad expression in testis (RPKM 20.4), thyroid (RPKM 9.5) and 25 other tissues See more
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    Genomic context

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    See GUSBP2 in Genome Data Viewer
    Location:
    6p22.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (26871487..26956554, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (26739840..26824933, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (26839266..26924333, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901290 Neighboring gene transfer RNA alanine (anticodon AGC) Neighboring gene tRNA-Ala (anticodon AGC) 14-2 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:26845091-26845270 Neighboring gene POM121 transmembrane nucleoporin like 6, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:26853600-26854455 Neighboring gene NANOG hESC enhancer GRCh37_chr6:26876271-26876881 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:26924432-26925130 Neighboring gene long intergenic non-protein coding RNA 240 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24256 Neighboring gene tRNA-Ile (anticodon TAT) 2-2 Neighboring gene LINC00240 antisense RNA regulating promoter methylation

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes. Shipley JM, et al. Am J Hum Genet, 1993 Mar. PMID 7680524, Free PMC Article
    2. The DNA sequence and analysis of human chromosome 6. Mungall AJ, et al. Nature, 2003 Oct 23. PMID 14574404
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    GeneRIFs: Gene References Into Functions

    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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    Other Names

    • glucuronidase, beta pseudogene 2
    • glucuronidase, beta pseudogene 4
    • glucuronidase, beta-like 1
    • spinal muscular atrophy candidate gene 3-like 2

    Clone Names

    • MGC22265

    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_003504.3 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL133255
      Related
      ENST00000479900.6

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      26871487..26956554 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      26739840..26824933 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001033523.1: Suppressed sequence

      Description
      NM_001033523.1: This RefSeq was permanently suppressed because it is now thought that this gene is a pseudogene.
    Nucleotide Protein
    Heading Accession and Version

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