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DEFB110 defensin beta 110 [ Homo sapiens (human) ]

Gene ID: 245913, updated on 5-Mar-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (50009138..50021994, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (49852040..49864897, complement)
105.20220307 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)

Genotypes

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_2023_10

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