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DEFB109A defensin beta 109A (pseudogene) [ Homo sapiens (human) ]

Gene ID: 245912, updated on 10-Oct-2023

Summary

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Official Symbol
DEFB109Aprovided by HGNC
Official Full Name
defensin beta 109A (pseudogene)provided by HGNC
Primary source
HGNC:HGNC:18090
See related
AllianceGenome:HGNC:18090
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
DEFB-9; DEFB109; DEFB109P1
Expression
Biased expression in testis (RPKM 1.1), ovary (RPKM 0.5) and 13 other tissues See more
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Genomic context

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Location:
8p23.1
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (12393284..12400365, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (12672819..12679907, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (12250793..12257874, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 66 member A Neighboring gene ubiquitin specific peptidase 17 like family member 2 pseudogene Neighboring gene ubiquitin carboxyl-terminal hydrolase 17-like protein 2-like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:12270174-12270694 Neighboring gene Putative protein FAM90A2P Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:12277688-12278525 Neighboring gene ALG1 like 12, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:12283742-12284386 Neighboring gene family with sequence similarity 86 member B2

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. ORFeome-based search of airway epithelial cell-specific novel human [beta]-defensin genes. Kao CY, et al. Am J Respir Cell Mol Biol, 2003 Jul. PMID 12600824
  2. Duplication and selection in the evolution of primate beta-defensin genes. Semple CA, et al. Genome Biol, 2003. PMID 12734011, Free PMC Article
  3. 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
  4. Cross-species analysis of the mammalian beta-defensin gene family: presence of syntenic gene clusters and preferential expression in the male reproductive tract. Patil AA, et al. Physiol Genomics, 2005 Sep 21. PMID 16033865

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. DEFB106 and DEFB109, were expressed in the lung.
    Title: ORFeome-based search of airway epithelial cell-specific novel human [beta]-defensin genes.
Submit: New GeneRIF Correction

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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Other Names

  • defensin beta 109 pseudogene 1
  • defensin, beta 9 pseudogene

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_024044.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AF540981

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_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    12393284..12400365 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    12672819..12679907 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

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