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DEFB116 defensin beta 116 [ Homo sapiens (human) ]

Gene ID: 245930, updated on 12-Oct-2019

Summary

Official Symbol
DEFB116provided by HGNC
Official Full Name
defensin beta 116provided by HGNC
Primary source
HGNC:HGNC:18097
See related
Ensembl:ENSG00000215545
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-16
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. [provided by RefSeq, Oct 2014]
Orthologs

Genomic context

See DEFB116 in Genome Data Viewer
Location:
20q11.21
Exon count:
2
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (31303212..31308585, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (29891015..29896388, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene DKKL1 pseudogene 1 Neighboring gene CDK5 regulatory subunit associated protein 3 pseudogene Neighboring gene ribosomal protein L31 pseudogene 3 Neighboring gene HAUS augmin like complex subunit 6 pseudogene 2

Genomic regions, transcripts, and products

Pathways from BioSystems

  • 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

General gene information

Homology

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
beta-defensin 116
Names
beta-defensin 16
defensin, beta 16

NCBI Reference Sequences (RefSeq)

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_001037731.1NP_001032820.1  beta-defensin 116 precursor

    See identical proteins and their annotated locations for NP_001032820.1

    Status: REVIEWED

    Source sequence(s)
    DQ012020
    Consensus CDS
    CCDS42860.1
    UniProtKB/Swiss-Prot
    Q30KQ4
    Related
    ENSP00000383396.1, ENST00000400549.1
    Conserved Domains (1) summary
    pfam13841
    Location:4068
    Defensin_beta_2; Beta defensin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    31303212..31308585 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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