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DEFB132 defensin beta 132 [ Homo sapiens (human) ]

Gene ID: 400830, updated on 15-Apr-2019

Summary

Official Symbol
DEFB132provided by HGNC
Official Full Name
defensin beta 132provided by HGNC
Primary source
HGNC:HGNC:33806
See related
Ensembl:ENSG00000186458
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
BD-32; DEFB32; HEL-75; UNQ827; DEFB-32; KFLL827
Summary
Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The protein encoded by this gene is secreted and is a member of the beta defensin protein family. This protein binds spermatozoa and has antimicrobial activity against E. coli. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. [provided by RefSeq, Nov 2014]
Expression
Restricted expression toward fat (RPKM 25.0) See more
Orthologs

Genomic context

See DEFB132 in Genome Data Viewer
Location:
20p13
Exon count:
2
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 20 NC_000020.11 (257736..261096)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (238377..241737)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene defensin beta 128 Neighboring gene defensin beta 129 Neighboring gene chromosome 20 open reading frame 96 Neighboring gene zinc finger CCHC-type containing 3

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
defense response to Gram-negative bacterium IC
Inferred by Curator
more info
PubMed 
innate immune response IEA
Inferred from Electronic Annotation
more info
 
killing of cells of other organism IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
sperm head IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
beta-defensin 132
Names
RP5-1103G7.6
beta-defensin 32
defensin HEL-75
defensin, beta 32

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_207469.3NP_997352.1  beta-defensin 132 precursor

    See identical proteins and their annotated locations for NP_997352.1

    Status: REVIEWED

    Source sequence(s)
    AL034548, AY358708, BC137292, BE044548
    Consensus CDS
    CCDS12993.1
    UniProtKB/Swiss-Prot
    Q7Z7B7
    Related
    ENSP00000371813.3, ENST00000382376.4
    Conserved Domains (1) summary
    pfam13841
    Location:2656
    Defensin_beta_2; Beta defensin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p12 Primary Assembly

    Range
    257736..261096
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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