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DEFB118 defensin beta 118 [ Homo sapiens (human) ]

Gene ID: 117285, updated on 6-Sep-2017
Official Symbol
DEFB118provided by HGNC
Official Full Name
defensin beta 118provided by HGNC
Primary source
HGNC:HGNC:16196
See related
Ensembl:ENSG00000131068 MIM:607650; Vega:OTTHUMG00000032161
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
ESC42; DEFB-18; ESP13.6; C20orf63
Summary
This gene encodes a member of the beta subfamily of defensins. Beta-defensins are antimicrobial peptides that protect tissues and organs from infection by a variety of microorganisms. Expression of this gene is regulated by androgen, and the encoded protein binds to sperm and exhibits antibacterial activity against E. coli. This gene is found in a cluster with other beta-defensin genes on the long arm of chromosome 20. [provided by RefSeq, Nov 2014]
Orthologs
Location:
20q11.21
Exon count:
2
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 20 NC_000020.11 (31368618..31373923)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (29956421..29961726)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene RNA, 5S ribosomal pseudogene 480 Neighboring gene defensin beta 117 (pseudogene) Neighboring gene defensin beta 119 Neighboring gene defensin beta 121

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Antimicrobial peptides, organism-specific biosystem (from REACTOME)
    Antimicrobial peptides, organism-specific biosystemAntimicrobial peptides (AMPs) are small molecular weight proteins with broad spectrum of antimicrobial activity against bacteria, viruses, and fungi (Zasloff M 2002; Radek K & Gallo R 2007). The majo...
  • Beta defensins, organism-specific biosystem (from REACTOME)
    Beta defensins, organism-specific biosystemHumans have 38 beta-defensin genes plus 9-10 pseudogenes (details available on the HGNC website at http://www.genenames.org/genefamilies/DEFB). Many beta-defensins are encoded by recently duplicated ...
  • Defensins, organism-specific biosystem (from REACTOME)
    Defensins, organism-specific biosystemThe defensins are a family of antimicrobial cationic peptide molecules which in mammals have a characteristic beta-sheet-rich fold and framework of six disulphide-linked cysteines (Selsted & Ouellet...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
antimicrobial humoral immune response mediated by antimicrobial peptide IDA
Inferred from Direct Assay
more info
PubMed 
cell-matrix adhesion NAS
Non-traceable Author Statement
more info
PubMed 
defense response to Gram-negative bacterium IDA
Inferred from Direct Assay
more info
PubMed 
defense response to bacterium TAS
Traceable Author Statement
more info
PubMed 
innate immune response TAS
Traceable Author Statement
more info
PubMed 
killing of cells of other organism IDA
Inferred from Direct Assay
more info
PubMed 
membrane disruption in other organism IDA
Inferred from Direct Assay
more info
PubMed 
spermatogenesis NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cell surface IBA
Inferred from Biological aspect of Ancestor
more info
 
extracellular region IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
beta-defensin 118
Names
defensin, beta 18
epididymal secretory protein 13.6
epididymus specific clone 42

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_054112.2NP_473453.1  beta-defensin 118 precursor

    See identical proteins and their annotated locations for NP_473453.1

    Status: REVIEWED

    Source sequence(s)
    AF347073, BC035677
    Consensus CDS
    CCDS13177.1
    UniProtKB/Swiss-Prot
    Q96PH6
    Related
    ENSP00000253381.2, OTTHUMP00000030515, ENST00000253381.2, OTTHUMT00000078501
    Conserved Domains (1) summary
    pfam13841
    Location:2655
    Defensin_beta_2; Beta defensin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p7 Primary Assembly

    Range
    31368618..31373923
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018931.2 Alternate CHM1_1.1

    Range
    29860364..29865668
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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