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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
  • 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)

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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Chemical Information
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Research Materials