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DEFB4A defensin beta 4A [ Homo sapiens (human) ]

Gene ID: 1673, updated on 18-Sep-2018

Summary

Official Symbol
DEFB4Aprovided by HGNC
Official Full Name
defensin beta 4Aprovided by HGNC
Primary source
HGNC:HGNC:2767
See related
Ensembl:ENSG00000171711 MIM:602215; Vega:OTTHUMG00000129314
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-2; SAP1; DEFB2; DEFB4; HBD-2; DEFB-2; DEFB102
Summary
Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 4, an antibiotic peptide which is locally regulated by inflammation. [provided by RefSeq, Jul 2008]
Expression
Biased expression in gall bladder (RPKM 1.2), esophagus (RPKM 0.7) and 3 other tissues See more

Genomic context

See DEFB4A in Genome Data Viewer
Location:
8p23.1
Exon count:
2
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (7894565..7896716)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (7752199..7754237)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene defensin beta 103A Neighboring gene heat shock protein family D (Hsp60) member 1 pseudogene 2 Neighboring gene zinc finger protein 705B Neighboring gene defensin beta 108A Neighboring gene family with sequence similarity 66 member E Neighboring gene ubiquitin carboxyl-terminal hydrolase 17-like protein 2-like

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

Replication interactions

Interaction Pubs
HIV-1 SF33 and 92UG029 is inhibited by DEFB4A (hBD2) and DEFB103 (hBD3) in internalized compartments of infant tonsil cells PubMed

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 SF33 Env gp120 binds to DEFB4A (hBD2) and DEFB103 (hBD3) in polarized infant tonsil cells as shown through immunoprecipitation PubMed
Tat tat Extracellular HIV-1 Tat upregulates the expression of human beta-defensin 2 (hBD-2) via JNK/NF-KappaB/AP-1-dependent pathways in human B cells PubMed

Go to the HIV-1, Human Interaction Database

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...
  • IL-17 signaling pathway, organism-specific biosystem (from KEGG)
    IL-17 signaling pathway, organism-specific biosystemThe interleukin 17 (IL-17) family, a subset of cytokines consisting of IL-17A-F, plays crucial roles in both acute and chronic inflammatory responses. IL-17A, the hallmark cytokine of the newly defi...
  • IL-17 signaling pathway, conserved biosystem (from KEGG)
    IL-17 signaling pathway, conserved biosystemThe interleukin 17 (IL-17) family, a subset of cytokines consisting of IL-17A-F, plays crucial roles in both acute and chronic inflammatory responses. IL-17A, the hallmark cytokine of the newly defi...
  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
CCR6 chemokine receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
CCR6 chemokine receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
chemoattractant activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
antimicrobial humoral immune response mediated by antimicrobial peptide IMP
Inferred from Mutant Phenotype
more info
PubMed 
antimicrobial humoral response TAS
Traceable Author Statement
more info
 
cell chemotaxis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chemotaxis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chemotaxis IDA
Inferred from Direct Assay
more info
PubMed 
defense response to Gram-negative bacterium IDA
Inferred from Direct Assay
more info
PubMed 
defense response to Gram-positive bacterium IDA
Inferred from Direct Assay
more info
PubMed 
defense response to bacterium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
defense response to bacterium IMP
Inferred from Mutant Phenotype
more info
PubMed 
immune response TAS
Traceable Author Statement
more info
PubMed 
killing of cells of other organism IDA
Inferred from Direct Assay
more info
PubMed 
killing of cells of other organism IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Golgi lumen TAS
Traceable Author Statement
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
intracellular IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
beta-defensin 4A
Names
beta defensin-2
defensin, beta 2
defensin, beta 4
skin-antimicrobial peptide 1

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.

Genomic

  1. NG_023301.1 RefSeqGene

    Range
    4889..7040
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004942.3NP_004933.1  beta-defensin 4A precursor

    See identical proteins and their annotated locations for NP_004933.1

    Status: REVIEWED

    Source sequence(s)
    BM855542, HY264007, Z71389
    Consensus CDS
    CCDS5971.1
    UniProtKB/Swiss-Prot
    O15263
    Related
    ENSP00000303532.2, OTTHUMP00000159651, ENST00000302247.2, OTTHUMT00000251446
    Conserved Domains (1) summary
    pfam00711
    Location:2862
    Defensin_beta; Beta defensin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

    Range
    7894565..7896716
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 PATCHES

Genomic

  1. NW_018654717.1 Reference GRCh38.p12 PATCHES

    Range
    802391..804519
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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