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    DEFB110 defensin beta 110 [ Homo sapiens (human) ]

    Gene ID: 245913, updated on 10-Dec-2024

    Summary

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    Official Symbol
    DEFB110provided by HGNC
    Official Full Name
    defensin beta 110provided by HGNC
    Primary source
    HGNC:HGNC:18091
    See related
    Ensembl:ENSG00000203970 AllianceGenome:HGNC:18091
    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
    Also known as
    DEFB-10; DEFB-11; DEFB111
    Summary
    Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2014]
    Orthologs
    mouse all
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    Genomic context

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    See DEFB110 in Genome Data Viewer
    Location:
    6p12.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (50009138..50021994, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (49852040..49864897, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (49976851..49989707, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene defensin beta 114 Neighboring gene defensin beta 113 Neighboring gene MPRA-validated peak5843 silencer Neighboring gene defensin beta 112 Neighboring gene uncharacterized LOC100505985

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Antimicrobial activity and structure of a consensus human β-defensin and its comparison to a novel putative hBD10. Rodriguez A, et al. Proteins, 2020 Jan. PMID 31325337
    2. 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
    3. 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
    4. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article
    5. 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

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Antimicrobial activity and structure of a consensus human beta-defensin and its comparison to a novel putative hBD10.
      Title: Antimicrobial activity and structure of a consensus human β-defensin and its comparison to a novel putative hBD10.
    2. The encoded protein is thought to have 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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • MGC183056, MGC190230

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables CCR6 chemokine receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables chemoattractant activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell chemotaxis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in defense response to bacterium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in innate immune response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive chemotaxis 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 110
    Names
    beta-defensin 10
    beta-defensin 11
    beta-defensin 111
    defensin, beta 10
    defensin, beta 110 locus

    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_001037497.2 → NP_001032586.1  beta-defensin 110 isoform a precursor

      See identical proteins and their annotated locations for NP_001032586.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a, also known as DEFB111).
      Source sequence(s)
      AL138879, DQ012015
      Consensus CDS
      CCDS34475.1
      UniProtKB/Swiss-Prot
      Q30KQ9, Q30KR0
      Related
      ENSP00000360190.2, ENST00000371148.3
      Conserved Domains (1) summary
      pfam13841
      Location:34 → 64
      Defensin_beta_2; Beta defensin

    2. NM_001037728.2 → NP_001032817.1  beta-defensin 110 isoform b precursor

      See identical proteins and their annotated locations for NP_001032817.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks a 3' UTR and differs in the 3' coding region, compared to variant 1, resulting in an isoform (b) that has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      DQ012014, DQ012015
      Consensus CDS
      CCDS43473.1
      UniProtKB/Swiss-Prot
      Q30KQ9
      Related
      ENSP00000377270.2, ENST00000393660.2
      Conserved Domains (1) summary
      pfam13841
      Location:31 → 61
      Defensin_beta_2; Beta defensin

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      50009138..50021994 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      49852040..49864897 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q30KQ9.1 GenPept UniProtKB/Swiss-Prot:Q30KQ9

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Miscellaneous