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

    Gene ID: 245935, updated on 10-Oct-2023

    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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    Location:
    20q11.21
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (31421439..31429180, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (33145643..33153375, complement)
    105.20220307 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: 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. 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)

    Genotypes

    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_2023_10

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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