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    DEFB122 defensin beta 122 (pseudogene) [ Homo sapiens (human) ]

    Gene ID: 245935, updated on 10-Dec-2024

    Summary

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    Official Symbol
    DEFB122provided by HGNC
    Official Full Name
    defensin beta 122 (pseudogene)provided by HGNC
    Primary source
    HGNC:HGNC:18102
    See related
    Ensembl:ENSG00000290996 MIM:616077; AllianceGenome:HGNC:18102
    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
    DEFB22; DEFB-22; DEFB122P
    Expression
    Low expression observed in reference dataset See more
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    Genomic context

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    See DEFB122 in Genome Data Viewer
    Location:
    20q11.21
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (31421439..31429180, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (33145643..33153375, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (30009242..30016983, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene defensin beta 119 Neighboring gene defensin beta 121 Neighboring gene defensin beta 123 Neighboring gene defensin beta 124

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Identification, characterization, and evolution of a primate beta-defensin gene cluster. Radhakrishnan Y, et al. Genes Immun, 2005 May. PMID 15772680, Free PMC Article
    2. Discovery of five conserved beta -defensin gene clusters using a computational search strategy. Schutte BC, et al. Proc Natl Acad Sci U S A, 2002 Feb 19. PMID 11854508, 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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    Markers

    Other Names

    • defensin, beta 122
    • defensin, beta 22

    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_045677.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL121751, AY122474
      Related
      ENST00000433453.1

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      31421439..31429180 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      33145643..33153375 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NR_002577.2: Suppressed sequence

      Description
      NR_002577.2: This RefSeq was permanently suppressed because it was based on sequence from the wrong strand.
    Nucleotide Protein
    Heading Accession and Version

    Gene LinkOut

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