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    CRYBB2P1 crystallin beta B2 pseudogene 1 [ Homo sapiens (human) ]

    Gene ID: 1416, updated on 22-Oct-2024

    Summary

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    Official Symbol
    CRYBB2P1provided by HGNC
    Official Full Name
    crystallin beta B2 pseudogene 1provided by HGNC
    Primary source
    HGNC:HGNC:2399
    See related
    Ensembl:ENSG00000291087 AllianceGenome:HGNC:2399
    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
    CRYB2B
    Expression
    Ubiquitous expression in testis (RPKM 3.4), brain (RPKM 3.4) and 25 other tissues See more
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    Genomic context

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    See CRYBB2P1 in Genome Data Viewer
    Location:
    22q11.23
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (25448087..25461678)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (25909246..25922826)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (25844054..25857645)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124905095 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13560 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:25826942-25827442 Neighboring gene uncharacterized LOC124905093 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:25847186-25847383 Neighboring gene conserved acetylation island sequence 2 enhancer Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:25868192-25868692 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:25868693-25869193 Neighboring gene uncharacterized LOC124905094 Neighboring gene microRNA 6817 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18786 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13561 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13562 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr22:25961339-25961854 Neighboring gene GRK3 antisense RNA 1 Neighboring gene G protein-coupled receptor kinase 3

    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. A functional role for the cancer disparity-linked genes, CRYβB2 and CRYβB2P1, in the promotion of breast cancer. Barrow MA, et al. Breast Cancer Res, 2019 Sep 11. PMID 31511085, Free PMC Article
    2. Linkage between the beta B2 and beta B3 crystallin genes in man and rat: a remnant of an ancient beta-crystallin gene cluster. Aarts HJ, et al. Gene, 1987. PMID 3436525
    3. A second gene for cerulean cataracts maps to the beta crystallin region on chromosome 22. Kramer P, et al. Genomics, 1996 Aug 1. PMID 8812489
    4. Direct assignment of the human beta B2 and beta B3 crystallin genes to 22q11.2----q12: markers for neurofibromatosis 2. Hulsebos TJ, et al. Cytogenet Cell Genet, 1991. PMID 2055112
    5. Genome-wide association of mood-incongruent psychotic bipolar disorder. Goes FS, et al. Transl Psychiatry, 2012 Oct 23. PMID 23092984, Free PMC Article

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association of mood-incongruent psychotic bipolar disorder.
    EBI GWAS Catalog

    Variation

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    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Clone Names

    • MGC51252

    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_033733.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript.
      Source sequence(s)
      BC047380
      Related
      ENST00000818145.1

    2. NR_033734.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an exon, compared to variant 1.
      Source sequence(s)
      BC037884, BC047380
      Related
      ENST00000382734.11

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      25448087..25461678
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      25909246..25922826
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NG_000851.3: Suppressed sequence

      Description
      NG_000851.3: This RefSeq was permanently suppressed because it is now thought that this pseudogene is transcribed.

    2. NG_027473.1: Suppressed sequence

      Description
      NG_027473.1: This RefSeq was permanently suppressed because it is now thought that this pseudogene is transcribed.
    Nucleotide Protein
    Heading Accession and Version

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