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Aliases for DEFB4A Gene

Aliases for DEFB4A Gene

  • Defensin, Beta 4A 2 3
  • Defensin, Beta 2 2 3 4
  • DEFB4 3 4 6
  • DEFB2 3 4 6
  • Skin-Antimicrobial Peptide 1 3 4
  • Defensin, Beta 4 2 3
  • Beta Defensin 2 2 3
  • Beta Defensin-2 2 3
  • Beta-Defensin 2 2 4
  • DEFB102 3 4
  • HBD-2 3 4
  • SAP1 3 4
  • BD-2 3 4
  • Beta-Defensin 4A 3
  • DEFB-2 3

External Ids for DEFB4A Gene

Previous HGNC Symbols for DEFB4A Gene

  • DEFB102
  • DEFB2
  • DEFB4

Previous GeneCards Identifiers for DEFB4A Gene

  • GC08P007752

Summaries for DEFB4A Gene

Entrez Gene Summary for DEFB4A Gene

  • 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]

GeneCards Summary for DEFB4A Gene

DEFB4A (Defensin, Beta 4A) is a Protein Coding gene. Diseases associated with DEFB4A include oral candidiasis and middle ear cholesteatoma. Among its related pathways are Defensins and Bacterial infections in CF airways. An important paralog of this gene is DEFB4B.

UniProtKB/Swiss-Prot for DEFB4A Gene

  • Has antibacterial activity.

Gene Wiki entry for DEFB4A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DEFB4A Gene

Genomics for DEFB4A Gene

Genomic Location for DEFB4A Gene

7,894,629 bp from pter
7,896,715 bp from pter
2,087 bases
Plus strand

Genomic View for DEFB4A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DEFB4A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DEFB4A Gene

No data available for Regulatory Elements for DEFB4A Gene

Proteins for DEFB4A Gene

  • Protein details for DEFB4A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Beta-defensin 4A
    Protein Accession:
    Secondary Accessions:
    • Q52LC0

    Protein attributes for DEFB4A Gene

    64 amino acids
    Molecular mass:
    7038 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for DEFB4A Gene

neXtProt entry for DEFB4A Gene

Proteomics data for DEFB4A Gene at MOPED

Post-translational modifications for DEFB4A Gene

No Post-translational modifications

Other Protein References for DEFB4A Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for DEFB4A (beta-Defensin 2)

No data available for DME Specific Peptides for DEFB4A Gene

Domains for DEFB4A Gene

Gene Families for DEFB4A Gene

Protein Domains for DEFB4A Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the beta-defensin family. LAP/TAP subfamily.
  • Belongs to the beta-defensin family. LAP/TAP subfamily.
genes like me logo Genes that share domains with DEFB4A: view

No data available for Suggested Antigen Peptide Sequences for DEFB4A Gene

Function for DEFB4A Gene

Molecular function for DEFB4A Gene

UniProtKB/Swiss-Prot Function:
Has antibacterial activity.
UniProtKB/Swiss-Prot Induction:
By inflammation

Phenotypes for DEFB4A Gene

GenomeRNAi human phenotypes for DEFB4A:
genes like me logo Genes that share phenotypes with DEFB4A: view

miRNA for DEFB4A Gene

miRTarBase miRNAs that target DEFB4A

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DEFB4A

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for DEFB4A Gene

Localization for DEFB4A Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEFB4A Gene


Subcellular locations from

Jensen Localization Image for DEFB4A Gene COMPARTMENTS Subcellular localization image for DEFB4A gene
Compartment Confidence
extracellular 5
golgi apparatus 4
nucleus 2

Gene Ontology (GO) - Cellular Components for DEFB4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005796 Golgi lumen TAS --
genes like me logo Genes that share ontologies with DEFB4A: view

Pathways for DEFB4A Gene

genes like me logo Genes that share pathways with DEFB4A: view

Pathways by source for DEFB4A Gene

2 Reactome pathways for DEFB4A Gene

Interacting Proteins for DEFB4A Gene

Gene Ontology (GO) - Biological Process for DEFB4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006935 chemotaxis TAS 10521347
GO:0006952 defense response --
GO:0006955 immune response TAS 10521347
GO:0007186 G-protein coupled receptor signaling pathway TAS 10521347
GO:0042742 defense response to bacterium IEA --
genes like me logo Genes that share ontologies with DEFB4A: view

Drugs for DEFB4A Gene

(31) Novoseek inferred chemical compound relationships for DEFB4A Gene

Compound -log(P) Hits PubMed IDs
hbd2 98.3 260
helenalin 65.6 4
hcec 60.1 2
peptidoglycan 52.5 9
lipoteichoic acid 44.9 3
genes like me logo Genes that share compounds with DEFB4A: view

Transcripts for DEFB4A Gene

mRNA/cDNA for DEFB4A Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(11) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DEFB4A Gene

Defensin, beta 4A:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DEFB4A

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DEFB4A Gene

No ASD Table

Relevant External Links for DEFB4A Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DEFB4A Gene

mRNA expression in normal human tissues for DEFB4A Gene

mRNA differential expression in normal tissues according to GTEx for DEFB4A Gene

This gene is overexpressed in Esophagus - Mucosa (31.2) and Minor Salivary Gland (13.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for DEFB4A Gene

SOURCE GeneReport for Unigene cluster for DEFB4A Gene Hs.105924

mRNA Expression by UniProt/SwissProt for DEFB4A Gene

Tissue specificity: Expressed in the skin and respiratory tract
genes like me logo Genes that share expressions with DEFB4A: view

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues and Expression partners for DEFB4A Gene

Orthologs for DEFB4A Gene

This gene was present in the common ancestor of human and mouse.

Orthologs for DEFB4A Gene

Organism Taxonomy Gene Similarity Type Details
(Mus musculus)
Mammalia Defb2 16
(Pan troglodytes)
Mammalia DEFB4A 36
  • 98 (a)
Species with no ortholog for DEFB4A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for DEFB4A Gene

Gene Tree for DEFB4A (if available)
Gene Tree for DEFB4A (if available)

Paralogs for DEFB4A Gene

Paralogs for DEFB4A Gene

(2) SIMAP similar genes for DEFB4A Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with DEFB4A: view

Variants for DEFB4A Gene

Sequence variations from dbSNP and Humsavar for DEFB4A Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs3762040 -- 7,893,686(+) ACGGA(A/G)GAAGG upstream-variant-2KB
rs9329210 -- 7,892,867(+) CTGTA(C/T)GCTTT upstream-variant-2KB
rs11289967 -- 7,892,798(+) TATAC(-/A)AAAAA upstream-variant-2KB
rs41390446 -- 7,896,964(+) ACCTA(C/T)CCCAC downstream-variant-500B
rs41507446 -- 7,896,940(+) TGCAT(A/C/T)CTCCC downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for DEFB4A Gene

Variant ID Type Subtype PubMed ID
nsv428194 CNV Gain+Loss 18775914
dgv2191e1 CNV Complex 17122850
nsv515968 CNV Gain+Loss 19592680
nsv821656 CNV Gain 15273396
dgv2192e1 CNV Complex 17122850
nsv510977 CNV Complex 20534489
dgv7659n71 CNV Gain 21882294
esv33606 CNV Gain+Loss 17666407
dgv7662n71 CNV Gain 21882294
nsv8281 CNV Gain+Loss 18304495
dgv7664n71 CNV Loss 21882294
nsv471650 CNV Gain+Loss 15918152
dgv2195e1 CNV Complex 17122850
dgv7669n71 CNV Gain 21882294
dgv7670n71 CNV Loss 21882294
dgv7673n71 CNV Gain+Loss 21882294
esv2752265 CNV Gain 17911159
nsv442397 CNV CNV 18776908
dgv7679n71 CNV Gain 21882294
esv2752266 CNV Loss 17911159
nsv508496 CNV Loss 20534489
dgv7682n71 CNV Gain 21882294
esv25631 CNV Gain+Loss 19812545
nsv890256 CNV Gain+Loss 21882294
dgv7683n71 CNV Gain+Loss 21882294
dgv7684n71 CNV Loss 21882294
dgv7685n71 CNV Gain 21882294
nsv890270 CNV Loss 21882294
dgv7686n71 CNV Gain 21882294
dgv7687n71 CNV Gain 21882294
esv992071 CNV Gain 20482838
dgv7688n71 CNV Gain 21882294
dgv7689n71 CNV Gain 21882294
nsv433398 CNV Gain 18776910
dgv7690n71 CNV Gain+Loss 21882294
dgv7691n71 CNV Gain 21882294
dgv1170n67 CNV Loss 20364138
nsv824524 CNV Gain+Loss 20364138
dgv7692n71 CNV Gain 21882294
dgv7693n71 CNV Gain+Loss 21882294
dgv7694n71 CNV Loss 21882294
dgv7695n71 CNV Gain 21882294
nsv890300 CNV Loss 21882294
dgv7696n71 CNV Gain 21882294
nsv890317 CNV Gain+Loss 21882294
dgv7697n71 CNV Gain 21882294
dgv10n29 CNV Gain 16826518
nsv471651 CNV Gain+Loss 15918152
nsv471477 CNV Duplication 19718026

Relevant External Links for DEFB4A Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DEFB4A Gene

Disorders for DEFB4A Gene

(2) University of Copenhagen DISEASES for DEFB4A Gene

(57) Novoseek inferred disease relationships for DEFB4A Gene

Disease -log(P) Hits PubMed IDs
skin infection 57.9 2
psoriasis 57.5 23
dermatitis atopic 57.1 13
bacterial infections 56.6 16
oral candidiasis 50.5 3

Relevant External Links for DEFB4A

Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with DEFB4A: view

No data available for OMIM , UniProtKB/Swiss-Prot and Genatlas for DEFB4A Gene

Publications for DEFB4A Gene

  1. The structure of human beta-defensin-2 shows evidence of higher order oligomerization. (PMID: 10906336) Hoover D.M. … Lubkowski J. (J. Biol. Chem. 2000) 3 4 23
  2. Structure and mapping of the human beta-defensin HBD-2 gene and its expression at sites of inflammation. (PMID: 9831658) Liu L. … Ganz T. (Gene 1998) 3 4 23
  3. A peptide antibiotic from human skin. (PMID: 9202117) Harder J. … Schroeder J.-M. (Nature 1997) 2 3 4
  4. Mucoid Pseudomonas aeruginosa, TNF-alpha, and IL-1beta, but not IL-6, induce human beta-defensin-2 in respiratory epithelia. (PMID: 10837369) Harder J. … Schroeder J.-M. (Am. J. Respir. Cell Mol. Biol. 2000) 3 4 23
  5. Regulation of human beta-defensin-2 in gingival epithelial cells: the involvement of mitogen-activated protein kinase pathways, but not the NF-kappaB transcription factor family. (PMID: 11751976) Krisanaprakornkit S. … Dale B.A. (J. Immunol. 2002) 3 23

Products for DEFB4A Gene

Sources for DEFB4A Gene

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