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    DEFB131B defensin beta 131B [ Homo sapiens (human) ]

    Gene ID: 100129216, updated on 17-Jun-2024

    Summary

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    Official Symbol
    DEFB131Bprovided by HGNC
    Official Full Name
    defensin beta 131Bprovided by HGNC
    Primary source
    HGNC:HGNC:38058
    See related
    Ensembl:ENSG00000225805 AllianceGenome:HGNC:38058
    Gene type
    protein coding
    RefSeq status
    INFERRED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to be involved in defense response to bacterium and innate immune response. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    all
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    Genomic context

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    See DEFB131B in Genome Data Viewer
    Location:
    11q13.4
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (71878453..71884561)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (71805359..71811467)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (71589499..71595607)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene XNDC1N-ZNF705EP-ALG1L9P readthrough Neighboring gene RNA, 5S ribosomal pseudogene 342 Neighboring gene MPRA-validated peak1338 silencer Neighboring gene defensin beta 130C (pseudogene) Neighboring gene XRCC1 N-terminal domain containing 1, N-terminal like Neighboring gene olfactory receptor family 7 subfamily E member 128 pseudogene Neighboring gene olfactory receptor family 7 subfamily E member 126 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. Expression of Beta-Defensin 131 Promotes an Innate Immune Response in Human Prostate Epithelial Cells. Kim JH, et al. PLoS One, 2015. PMID 26649771, Free PMC Article
    2. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    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

    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
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    beta-defensin 131B
    Names
    defensin, beta 131

    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_001242853.1 → NP_001229782.1  beta-defensin 131B precursor

      Status: INFERRED

      Source sequence(s)
      AP002495
      Consensus CDS
      CCDS76450.1
      UniProtKB/Swiss-Prot
      A0A096LNP1
      Related
      ENSP00000485141.1, ENST00000530210.1
      Conserved Domains (1) summary
      pfam13841
      Location:28 → 57
      Defensin_beta_2; Beta defensin

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      71878453..71884561
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      71805359..71811467
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A0A096LNP1.1 GenPept UniProtKB/Swiss-Prot:A0A096LNP1

    Gene LinkOut

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

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