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Aliases for DEFB4A Gene

Aliases for DEFB4A Gene

  • Defensin Beta 4A 2 3 5
  • Defensin, Beta 2 2 3 4
  • Skin-Antimicrobial Peptide 1 3 4
  • Defensin, Beta 4A 2 3
  • Defensin, Beta 4 2 3
  • Beta Defensin 2 2 3
  • Beta Defensin-2 2 3
  • Beta-Defensin 2 2 4
  • DEFB102 3 4
  • DEFB4 3 4
  • HBD-2 3 4
  • DEFB2 3 4
  • BD-2 3 4
  • SAP1 3 4
  • 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 Tinea Corporis. Among its related pathways are Immune System and Defensins. 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

Regulatory Elements for DEFB4A Gene

Enhancers for DEFB4A Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around DEFB4A on UCSC Golden Path with GeneCards custom track

Genomic Location for DEFB4A Gene

7,894,565 bp from pter
7,896,716 bp from pter
2,152 bases
Plus strand

Genomic View for DEFB4A Gene

Genes around DEFB4A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DEFB4A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DEFB4A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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:
REFSEQ proteins:

Antibody Products

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

No data available for DME Specific Peptides for DEFB4A Gene

Domains & Families 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.
genes like me logo Genes that share phenotypes with DEFB4A: view

Animal Model Products

miRNA for DEFB4A Gene

miRTarBase miRNAs that target DEFB4A

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , 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

No data available for Gene Ontology (GO) - Cellular Components for DEFB4A Gene

Pathways & Interactions for DEFB4A Gene

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

Pathways by source 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:0007186 G-protein coupled receptor signaling pathway TAS 10521347
GO:0045087 innate immune response TAS --
genes like me logo Genes that share ontologies with DEFB4A: view

No data available for SIGNOR curated interactions for DEFB4A Gene

Drugs & Compounds for DEFB4A Gene

(14) Drugs for DEFB4A Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(17) Additional Compounds for DEFB4A Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

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 (x31.2) and Minor Salivary Gland (x13.4).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with DEFB4A: view

Primer Products

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

Orthologs for DEFB4A Gene

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

Orthologs for DEFB4A Gene

Organism Taxonomy Gene Similarity Type Details
(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)
  • mouse (Mus musculus)
  • 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
rs9329210 -- 7,892,867(+) CTGTA(C/T)GCTTT upstream-variant-2KB
rs3762040 -- 7,893,686(+) ACGGA(A/G)GAAGG upstream-variant-2KB
rs11289967 -- 7,892,798(+) TATAC(-/A)AAAAA upstream-variant-2KB
rs143097831 -- 7,894,733(+) CTCCT(C/T)TTCTC reference, synonymous-codon
rs183160340 -- 7,895,162(+) AATAT(C/T)ATCTC intron-variant

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

Variation tolerance for DEFB4A Gene

Gene Damage Index Score: 0.07; 1.59% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DEFB4A Gene

Human Gene Mutation Database (HGMD)

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

Disorders for DEFB4A Gene

MalaCards: The human disease database

(12) MalaCards diseases for DEFB4A Gene - From: Novoseek and GeneCards

Disorder Aliases PubMed IDs
oral candidiasis
  • candidiasis of mouth
tinea corporis
  • dermatophytosis of the body
  • uterine cervicitis
  • tinea
  • non-gonococcal urethritis
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for DEFB4A

Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with DEFB4A: view

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

Publications for DEFB4A Gene

  1. A peptide antibiotic from human skin. (PMID: 9202117) Harder J. … Schroeder J.-M. (Nature 1997) 2 3 4 67
  2. The role of human beta defensins 2 and 3 in the second trimester amniotic fluid in predicting preterm labor and premature rupture of membranes. (PMID: 19554343) Iavazzo C. … Malamitsi-Puchner A. (Arch. Gynecol. Obstet. 2010) 3 23
  3. Patented natural avocado sugars modulate the HBD-2 expression in human keratinocytes through the involvement of protein kinase C and protein tyrosine kinases. (PMID: 19760202) Paoletti I. … Donnarumma G. (Arch. Dermatol. Res. 2010) 3 23
  4. Association of higher DEFB4 genomic copy number with Crohn's disease. (PMID: 19809410) Bentley R.W. … Roberts R.L. (Am. J. Gastroenterol. 2010) 3 23
  5. Modulation of human beta-defensin-2 expression by 17beta-estradiol and progesterone in vaginal epithelial cells. (PMID: 19819163) Han J.H. … Myung S.C. (Cytokine 2010) 3 23

Products for DEFB4A Gene

Sources for DEFB4A Gene