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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 4 2 3
  • Beta Defensin-2 2 3
  • Beta-Defensin 2 2 4
  • DEFB102 3 4
  • HBD-2 3 4
  • DEFB2 3 4
  • DEFB4 3 4
  • BD-2 3 4
  • SAP1 3 4
  • Defensin, Beta 4A 2
  • Beta-Defensin 4A 3
  • Beta Defensin 2 2
  • 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 Cervicitis. Among its related pathways are Bacterial infections in CF airways and Defensins. An important paralog of this gene is DEFB4B.

UniProtKB/Swiss-Prot for DEFB4A Gene

  • Exhibits antimicrobial activity against Gram-negative bacteria and Gram-positive bacteria. May act as a ligand for C-C chemokine receptor CCR6. Can bind to both human and mouse CCR6 and induce chemotactic activity of CCR6-expressing cells (PubMed:20068036).

Gene Wiki entry for DEFB4A Gene

Additional gene information for DEFB4A Gene

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

Genomics for DEFB4A Gene

GeneHancer (GH) Regulatory Elements for DEFB4A Gene

Promoters and enhancers for DEFB4A Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J007894 Promoter 0.5 EPDnew 650.7 +0.1 93 0.1 DEFB4A HSPD1P2 PIR34694
GH08J007913 Enhancer 0.9 Ensembl dbSUPER 0.4 +19.0 19036 0.4 CTCF ZNF654 ESRRA TRIM22 REST ZNF2 RAD21 CC2D1A ARID2 GLIS1 PIR34694 DEFB4A
GH08J007901 Enhancer 0.3 dbSUPER 0.4 +8.0 8023 2.2 ZNF585B FAM90A11P DEFB4A PIR34694
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DEFB4A on UCSC Golden Path with GeneCards custom track

Genomic Locations for DEFB4A Gene

Genomic Locations for DEFB4A Gene
2,152 bases
Plus strand
2,087 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
    • 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

Post-translational modifications for DEFB4A Gene

No Post-translational modifications

Other Protein References for DEFB4A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DEFB4A Gene

Domains & Families for DEFB4A Gene

Gene Families for DEFB4A Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins
  • Transporters

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:
Exhibits antimicrobial activity against Gram-negative bacteria and Gram-positive bacteria. May act as a ligand for C-C chemokine receptor CCR6. Can bind to both human and mouse CCR6 and induce chemotactic activity of CCR6-expressing cells (PubMed:20068036).
UniProtKB/Swiss-Prot Induction:
By inflammation.

Gene Ontology (GO) - Molecular Function for DEFB4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20068036
GO:0031731 CCR6 chemokine receptor binding IDA 20068036
GO:0042056 chemoattractant activity IBA --
genes like me logo Genes that share ontologies with DEFB4A: view
genes like me logo Genes that share phenotypes with DEFB4A: view

Animal Model Products

CRISPR Products

miRNA for DEFB4A Gene

miRTarBase miRNAs that target DEFB4A

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DEFB4A

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DEFB4A gene
Compartment Confidence
extracellular 5
golgi apparatus 4
nucleus 2
cytosol 1

Gene Ontology (GO) - Cellular Components for DEFB4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 9727055
GO:0005622 intracellular IDA 9727055
GO:0005796 Golgi lumen TAS --
genes like me logo Genes that share ontologies with DEFB4A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) 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

1 KEGG pathway for DEFB4A Gene

Interacting Proteins for DEFB4A Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
Selected Interacting proteins: ENSP00000303532 O15263-DFB4A_HUMAN for DEFB4A Gene via STRING IID

Gene Ontology (GO) - Biological Process for DEFB4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006935 chemotaxis TAS,IDA 20068036
GO:0006952 defense response IEA --
GO:0006955 immune response TAS 10521347
GO:0007186 G-protein coupled receptor signaling pathway TAS 10521347
GO:0019730 antimicrobial humoral 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

(15) Drugs for DEFB4A Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(16) 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:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DEFB4A

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 and MOPED for DEFB4A Gene

NURSA nuclear receptor signaling pathways regulating expression of DEFB4A Gene:


SOURCE GeneReport for Unigene cluster for DEFB4A Gene:


mRNA Expression by UniProt/SwissProt for DEFB4A Gene:

Tissue specificity: Expressed in the skin and respiratory tract.

Evidence on tissue expression from TISSUES for DEFB4A Gene

  • Skin(4.5)
  • Nervous system(4)
  • Blood(2.1)
  • Lung(2)
genes like me logo Genes that share expression patterns with DEFB4A: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 34
  • 98 (a)
Species where no ortholog for DEFB4A was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1001216156 -- 7,894,039(+) G/A upstream_transcript_variant
rs1001248955 -- 7,894,898(+) C/T intron_variant
rs1005780999 -- 7,895,050(+) T/C intron_variant
rs1005815140 -- 7,896,809(+) G/A downstream_transcript_variant
rs1011403267 -- 7,893,646(+) C/G upstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
dgv1170n67 CNV loss 20364138
dgv11911n54 CNV loss 21841781
dgv11913n54 CNV gain 21841781
dgv11914n54 CNV gain 21841781
dgv11928n54 CNV gain 21841781
dgv11930n54 CNV gain 21841781
dgv11931n54 CNV loss 21841781
dgv11932n54 CNV loss 21841781
dgv11933n54 CNV loss 21841781
dgv11935n54 CNV gain 21841781
dgv11936n54 CNV loss 21841781
dgv13n29 CNV gain+loss 16826518
dgv2035e212 CNV gain 25503493
dgv6882n100 CNV gain 25217958
dgv6887n100 CNV loss 25217958
dgv6890n100 CNV gain 25217958
dgv6895n100 CNV loss 25217958
dgv6896n100 CNV gain+loss 25217958
dgv6909n100 CNV gain 25217958
dgv6910n100 CNV gain+loss 25217958
dgv6911n100 CNV loss 25217958
dgv6912n100 CNV loss 25217958
dgv6915n100 CNV gain 25217958
dgv6935n100 CNV gain 25217958
dgv6936n100 CNV gain+loss 25217958
dgv6940n100 CNV loss 25217958
dgv6948n100 CNV gain+loss 25217958
dgv6949n100 CNV gain 25217958
dgv6950n100 CNV loss 25217958
dgv6955n100 CNV gain 25217958
dgv6958n100 CNV gain+loss 25217958
dgv6959n100 CNV loss 25217958
dgv6960n100 CNV loss 25217958
dgv6961n100 CNV gain+loss 25217958
dgv6962n100 CNV gain 25217958
dgv6963n100 CNV loss 25217958
dgv6964n100 CNV gain 25217958
dgv6965n100 CNV gain+loss 25217958
dgv6966n100 CNV loss 25217958
dgv6967n100 CNV gain+loss 25217958
dgv6968n100 CNV gain 25217958
dgv6969n100 CNV gain+loss 25217958
dgv6970n100 CNV gain 25217958
dgv6971n100 CNV loss 25217958
dgv6972n100 CNV loss 25217958
dgv6973n100 CNV loss 25217958
dgv6974n100 CNV gain+loss 25217958
dgv6975n100 CNV loss 25217958
dgv6976n100 CNV loss 25217958
dgv6977n100 CNV gain 25217958
dgv6978n100 CNV loss 25217958
dgv6979n100 CNV gain+loss 25217958
dgv6980n100 CNV gain 25217958
dgv6981n100 CNV loss 25217958
esv25631 CNV gain+loss 19812545
esv2752265 CNV gain 17911159
esv2752266 CNV loss 17911159
esv2759589 CNV gain+loss 17122850
esv2761169 CNV gain+loss 21179565
esv2764098 CNV gain+loss 21179565
esv33606 CNV gain+loss 17666407
esv3584574 CNV gain 24956385
esv3584577 CNV gain 24956385
esv3891318 CNV gain 25118596
esv3891321 CNV gain+loss 25118596
esv3891323 CNV gain+loss 25118596
esv992071 CNV gain 20482838
nsv1017081 CNV gain 25217958
nsv1020728 CNV gain+loss 25217958
nsv1022975 CNV loss 25217958
nsv1025485 CNV gain 25217958
nsv1030619 CNV loss 25217958
nsv1031577 CNV gain 25217958
nsv1032072 CNV gain 25217958
nsv1032809 CNV loss 25217958
nsv1145187 CNV deletion 24896259
nsv428194 CNV gain+loss 18775914
nsv433398 CNV gain 18776910
nsv442397 CNV gain 18776908
nsv471477 CNV gain 19718026
nsv471650 CNV gain+loss 15918152
nsv471651 CNV gain+loss 15918152
nsv508496 CNV deletion 20534489
nsv510977 OTHER complex 20534489
nsv515968 CNV gain+loss 19592680
nsv610102 CNV gain+loss 21841781
nsv610119 CNV gain+loss 21841781
nsv610135 CNV loss 21841781
nsv610136 CNV gain 21841781
nsv610137 CNV loss 21841781
nsv821656 CNV gain 15273396
nsv824524 CNV gain+loss 20364138
nsv8281 CNV gain+loss 18304495
nsv951093 CNV deletion 24416366
nsv971627 CNV duplication 23825009

Variation tolerance for DEFB4A Gene

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

Additional Variant Information for DEFB4A Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for DEFB4A Gene

MalaCards: The human disease database

(38) MalaCards diseases for DEFB4A Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
oral candidiasis
  • candidiasis of mouth
  • uterine cervicitis
  • non-gonococcal urethritis
  • tinea
cholesteatoma of middle ear
  • cholesteatoma
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for DEFB4A

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. Specific binding and chemotactic activity of mBD4 and its functional orthologue hBD2 to CCR6-expressing cells. (PMID: 20068036) Röhrl J … Hehlgans T (The Journal of biological chemistry 2010) 3 4 22 58
  2. The structure of human beta-defensin-2 shows evidence of higher order oligomerization. (PMID: 10906336) Hoover DM … Lubkowski J (The Journal of biological chemistry 2000) 3 4 22 58
  3. 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 22 58
  4. A peptide antibiotic from human skin. (PMID: 9202117) Harder J … Schröder JM (Nature 1997) 2 3 4 58
  5. 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 (Archives of gynecology and obstetrics 2010) 3 22 58

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