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    DEFB134 defensin beta 134 [ Homo sapiens (human) ]

    Gene ID: 613211, updated on 5-Mar-2024

    Summary

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    Official Symbol
    DEFB134provided by HGNC
    Official Full Name
    defensin beta 134provided by HGNC
    Primary source
    HGNC:HGNC:32399
    See related
    Ensembl:ENSG00000205882 AllianceGenome:HGNC:32399
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 8p23. [provided by RefSeq, Nov 2014]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    all
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    Genomic context

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    Location:
    8p23.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (11993174..12000752, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (7739516..7747095)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (11850683..11858261, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene defensin beta 136 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11843909-11844409 Neighboring gene defensin beta 135 Neighboring gene nuclear receptor binding SET domain protein 3 pseudogene Neighboring gene olfactory receptor family 7 subfamily E member 160 pseudogene Neighboring gene uncharacterized LOC105379245 Neighboring gene defensin beta 131E (pseudogene) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11871185-11871846 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11873134-11873664 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11879796-11880328 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11888763-11889262 Neighboring gene uncharacterized LOC105379246 Neighboring gene defensin beta 131C (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. 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
    2. Creation of genome-wide protein expression libraries using random activation of gene expression. Harrington JJ, et al. Nat Biotechnol, 2001 May. PMID 11329013
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The protein encoded by this gene is thought to display antimicrobial activity.
      Title: Cross-species analysis of the mammalian beta-defensin gene family: presence of syntenic gene clusters and preferential expression in the male reproductive tract.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    General gene information

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    Homology

    Clone Names

    • MGC163333, MGC163335

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in defense response to bacterium IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in innate immune response IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    beta-defensin 134
    Names
    beta-defensin 135

    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.

    mRNA and Protein(s)

    1. NM_001302695.2 → NP_001289624.1  beta-defensin 134 precursor

      See identical proteins and their annotated locations for NP_001289624.1

      Status: REVIEWED

      Source sequence(s)
      AC107918, BG191747, BX099413, HY003097
      Consensus CDS
      CCDS34847.1
      UniProtKB/Swiss-Prot
      A1L4A4, Q4QY38
      Related
      ENSP00000371640.4, ENST00000382205.6

    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
      11993174..12000752 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017013724.1 → XP_016869213.1  beta-defensin 134 isoform X1

      UniProtKB/Swiss-Prot
      A1L4A4, Q4QY38

    2. XM_047422075.1 → XP_047278031.1  beta-defensin 134 isoform X1

      UniProtKB/Swiss-Prot
      A1L4A4, Q4QY38
      Related
      ENSP00000435010.1, ENST00000526438.6

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_018654717.1 Reference GRCh38.p14 PATCHES

      Range
      1347265..1354844
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332251.1 → XP_054188226.1  beta-defensin 134 isoform X1

      UniProtKB/Swiss-Prot
      A1L4A4, Q4QY38

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      7739516..7747095
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360960.1 → XP_054216935.1  beta-defensin 134 isoform X1

      UniProtKB/Swiss-Prot
      A1L4A4, Q4QY38

    2. XM_054360959.1 → XP_054216934.1  beta-defensin 134 isoform X1

      UniProtKB/Swiss-Prot
      A1L4A4, Q4QY38

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001033019.1: Suppressed sequence

      Description
      NM_001033019.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q4QY38.1 GenPept UniProtKB/Swiss-Prot:Q4QY38

    Gene LinkOut

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

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