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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

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