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

Gene ID: 1416, updated on 10-Oct-2023

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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Location:
22q11.23
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (25448087..25461678)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (25909246..25922826)
105.20220307 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)

Genotypes

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

  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
    ENST00000382734.10

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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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