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    DEFT1P2 defensin theta 1, pseudogene 2 [ Homo sapiens (human) ]

    Gene ID: 100287083, updated on 22-Oct-2024

    Summary

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    Official Symbol
    DEFT1P2provided by HGNC
    Official Full Name
    defensin theta 1, pseudogene 2provided by HGNC
    Primary source
    HGNC:HGNC:33599
    See related
    Ensembl:ENSG00000295971 AllianceGenome:HGNC:33599
    Gene type
    pseudo
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Expression
    Restricted expression toward bone marrow (RPKM 2.5) See more
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    Genomic context

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    See DEFT1P2 in Genome Data Viewer
    Location:
    8p23.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (7006281..7008824, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (6760954..6763495, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (6863803..6866346, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene defensin theta 1, pseudogene Neighboring gene uncharacterized LOC124901874 Neighboring gene defensin alpha 1B Neighboring gene uncharacterized LOC124901875 Neighboring gene defensin alpha 3 Neighboring gene defensin alpha 11, pseudogene

    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 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. Evolution of primate theta-defensins: a serpentine path to a sweet tooth. Nguyen TX, et al. Peptides, 2003 Nov. PMID 15019196
    2. Retrocyclin: a primate peptide that protects cells from infection by T- and M-tropic strains of HIV-1. Cole AM, et al. Proc Natl Acad Sci U S A, 2002 Feb 19. PMID 11854483, Free PMC Article
    3. Inter-population variability of DEFA3 gene absence: correlation with haplotype structure and population variability. Ballana E, et al. BMC Genomics, 2007 Jan 10. PMID 17214878, Free PMC Article
    4. Profile of human β-defensins 1,2 and proinflammatory cytokines (TNF-α, IL-6) in patients with chronic kidney disease. Oh DJ, et al. Kidney Blood Press Res, 2013. PMID 24356550
    5. Copy number polymorphism and expression level variation of the human alpha-defensin genes DEFA1 and DEFA3. Aldred PM, et al. Hum Mol Genet, 2005 Jul 15. PMID 15944200

    See all (6) citations in PubMed

    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

    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_036687.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AF238378
      Related
      ENST00000734661.1

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      7006281..7008824 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_018654717.1 Reference GRCh38.p14 PATCHES

      Range
      401415..403957 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      6760954..6763495 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NG_012774.1: Suppressed sequence

      Description
      NG_012774.1: This RefSeq was permanently suppressed because it is now thought that this gene is a transcribed pseudogene.
    Nucleotide Protein
    Heading Accession and Version

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