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Aliases for DEFA3 Gene

Aliases for DEFA3 Gene

  • Defensin Alpha 3 2 3 5
  • Defensin, Alpha 3, Neutrophil-Specific 2 3
  • HNP-3 3 4
  • DEF3 3 4
  • HP-3 3 4
  • HP3 3 4
  • Defensin 3, Neutrophil-Specific 3
  • Neutrophil Defensin 3 3
  • Neutrophil Peptide 3 3
  • Defensin, Alpha 3 4
  • HNP3 3

External Ids for DEFA3 Gene

Previous HGNC Symbols for DEFA3 Gene

  • DEF3

Previous GeneCards Identifiers for DEFA3 Gene

  • GC08M006918
  • GC08M007108
  • GC08M007033
  • GC08M006860
  • GC08M006875
  • GC08M006997

Summaries for DEFA3 Gene

Entrez Gene Summary for DEFA3 Gene

  • Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. The protein encoded by this gene, defensin, alpha 3, is found in the microbicidal granules of neutrophils and likely plays a role in phagocyte-mediated host defense. Several alpha defensin genes are clustered on chromosome 8. This gene differs from defensin, alpha 1 by only one amino acid. This gene and the gene encoding defensin, alpha 1 are both subject to copy number variation. [provided by RefSeq, Oct 2014]

GeneCards Summary for DEFA3 Gene

DEFA3 (Defensin Alpha 3) is a Protein Coding gene. Diseases associated with DEFA3 include Bell's Palsy and Dermatomycosis. Among its related pathways are Defensins and Innate Immune System. An important paralog of this gene is DEFA1B.

UniProtKB/Swiss-Prot for DEFA3 Gene

  • Defensin 2 and defensin 3 have antibiotic, fungicide and antiviral activities. Has antimicrobial activity against Gram-negative and Gram-positive bacteria. Defensins are thought to kill microbes by permeabilizing their plasma membrane.

Gene Wiki entry for DEFA3 Gene

Additional gene information for DEFA3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DEFA3 Gene

Genomics for DEFA3 Gene

GeneHancer (GH) Regulatory Elements for DEFA3 Gene

Promoters and enhancers for DEFA3 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
GH08J007018 Promoter 0.5 EPDnew 650.7 +0.0 22 0.1 DEFA3 DEFT1P2
GH08J007026 Enhancer 0.4 ENCODE 0.4 -8.6 -8615 0.2 CTCF ZNF143 GC08P007032 PIR60401 DEFA5 DEFA4 DEFA3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DEFA3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DEFA3 gene promoter:
  • AML1a
  • c-Myb
  • FOXL1
  • Nkx2-5

Genomic Locations for DEFA3 Gene

Genomic Locations for DEFA3 Gene
2,471 bases
Minus strand
2,433 bases
Minus strand

Genomic View for DEFA3 Gene

Genes around DEFA3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DEFA3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DEFA3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DEFA3 Gene

Proteins for DEFA3 Gene

  • Protein details for DEFA3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Neutrophil defensin 3
    Protein Accession:
    Secondary Accessions:
    • P11479
    • Q14125

    Protein attributes for DEFA3 Gene

    94 amino acids
    Molecular mass:
    10245 Da
    Quaternary structure:
    • Dimer.

    Three dimensional structures from OCA and Proteopedia for DEFA3 Gene

neXtProt entry for DEFA3 Gene

Post-translational modifications for DEFA3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DEFA3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DEFA3 Gene

Domains & Families for DEFA3 Gene

Gene Families for DEFA3 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted secreted proteins

Protein Domains for DEFA3 Gene

Suggested Antigen Peptide Sequences for DEFA3 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the alpha-defensin family.
  • Belongs to the alpha-defensin family.
genes like me logo Genes that share domains with DEFA3: view

Function for DEFA3 Gene

Molecular function for DEFA3 Gene

UniProtKB/Swiss-Prot Function:
Defensin 2 and defensin 3 have antibiotic, fungicide and antiviral activities. Has antimicrobial activity against Gram-negative and Gram-positive bacteria. Defensins are thought to kill microbes by permeabilizing their plasma membrane.
GENATLAS Biochemistry:
defensin alpha 3,3-4kDa,,hematopoietic,released from azurophil granules of neutrophiles,oxygen independent phagocytosis of Gram+,Gram- bacteria,many fungi,some viruses

Phenotypes From GWAS Catalog for DEFA3 Gene

Gene Ontology (GO) - Molecular Function for DEFA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0042803 protein homodimerization activity IDA 2006422
genes like me logo Genes that share ontologies with DEFA3: view
genes like me logo Genes that share phenotypes with DEFA3: view

miRNA for DEFA3 Gene

miRTarBase miRNAs that target DEFA3

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DEFA3 Gene

Localization for DEFA3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEFA3 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 DEFA3 gene
Compartment Confidence
extracellular 5
lysosome 4
golgi apparatus 4
nucleus 1

Gene Ontology (GO) - Cellular Components for DEFA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 12860195
GO:0005796 Golgi lumen TAS --
GO:0035578 azurophil granule lumen TAS --
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with DEFA3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DEFA3 Gene

Pathways & Interactions for DEFA3 Gene

genes like me logo Genes that share pathways with DEFA3: view

Pathways by source for DEFA3 Gene

Gene Ontology (GO) - Biological Process for DEFA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002227 innate immune response in mucosa IDA 12860195
GO:0006952 defense response IEA --
GO:0019730 antimicrobial humoral response TAS --
GO:0019731 antibacterial humoral response IDA 12860195
GO:0030520 intracellular estrogen receptor signaling pathway IDA 21861873
genes like me logo Genes that share ontologies with DEFA3: view

No data available for SIGNOR curated interactions for DEFA3 Gene

Drugs & Compounds for DEFA3 Gene

(1) Drugs for DEFA3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for DEFA3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with DEFA3: view

Transcripts for DEFA3 Gene

mRNA/cDNA for DEFA3 Gene

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

Unigene Clusters for DEFA3 Gene

Defensin, alpha 3, neutrophil-specific:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DEFA3 Gene

No ASD Table

Relevant External Links for DEFA3 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DEFA3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DEFA3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DEFA3 Gene

This gene is overexpressed in Whole Blood (x48.5).

Protein differential expression in normal tissues from HIPED for DEFA3 Gene

This gene is overexpressed in Saliva (39.2), Urine (10.3), Serum (9.3), and CD4 Tcells (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DEFA3 Gene

Protein tissue co-expression partners for DEFA3 Gene

NURSA nuclear receptor signaling pathways regulating expression of DEFA3 Gene:


SOURCE GeneReport for Unigene cluster for DEFA3 Gene:


Evidence on tissue expression from TISSUES for DEFA3 Gene

  • Spleen(4.3)
  • Pancreas(4.1)
  • Bone marrow(4)
  • Blood(3.1)
genes like me logo Genes that share expression patterns with DEFA3: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DEFA3 Gene

Orthologs for DEFA3 Gene

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

Orthologs for DEFA3 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia DEFA4 34
  • 67 (a)
Species where no ortholog for DEFA3 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 DEFA3 Gene

Gene Tree for DEFA3 (if available)
Gene Tree for DEFA3 (if available)
Evolutionary constrained regions (ECRs) for DEFA3: view image

Paralogs for DEFA3 Gene

Paralogs for DEFA3 Gene

(6) SIMAP similar genes for DEFA3 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with DEFA3: view

Variants for DEFA3 Gene

Sequence variations from dbSNP and Humsavar for DEFA3 Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs1000121396 -- 7,019,126(-) G/A upstream_transcript_variant
rs1000407699 -- 7,019,016(-) A/T upstream_transcript_variant
rs1002131406 -- 7,017,916(-) C/A/T intron_variant
rs1002251614 -- 7,018,077(-) C/T intron_variant
rs1002685632 -- 7,019,781(-) G/C upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for DEFA3 Gene

Variant ID Type Subtype PubMed ID
dgv11908n54 CNV gain 21841781
dgv2034e212 CNV loss 25503493
dgv3758n106 CNV deletion 24896259
dgv6878n100 CNV gain 25217958
dgv6879n100 CNV gain 25217958
dgv6880n100 CNV loss 25217958
dgv6881n100 CNV gain 25217958
dgv6882n100 CNV gain 25217958
esv21544 CNV gain+loss 19812545
esv2752262 CNV gain 17911159
esv2759589 CNV gain+loss 17122850
esv2761169 CNV gain+loss 21179565
esv3358388 CNV duplication 20981092
esv3576520 CNV gain 25503493
nsv1015244 CNV gain 25217958
nsv1031577 CNV gain 25217958
nsv1077508 CNV duplication 25765185
nsv1141567 CNV duplication 24896259
nsv428194 CNV gain+loss 18775914
nsv435861 CNV deletion 17901297
nsv437041 CNV loss 16327808
nsv465436 CNV gain 19166990
nsv482119 CNV gain 20164927
nsv515096 CNV gain 21397061
nsv527917 CNV gain 19592680
nsv528374 CNV gain 19592680
nsv6060 CNV deletion 18451855
nsv6064 CNV insertion 18451855
nsv610006 CNV gain 21841781
nsv610010 CNV gain 21841781
nsv610031 CNV loss 21841781
nsv820476 CNV duplication 20802225
nsv8278 CNV gain+loss 18304495
nsv831221 CNV gain 17160897
nsv950282 CNV duplication 24416366
nsv967553 CNV duplication 23825009

Variation tolerance for DEFA3 Gene

Gene Damage Index Score: 0.38; 8.31% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DEFA3 Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DEFA3 Gene

Disorders for DEFA3 Gene

MalaCards: The human disease database

(5) MalaCards diseases for DEFA3 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
bell's palsy
  • bell palsy
  • dermatomycoses
multidrug-resistant tuberculosis
  • tuberculosis multidrug-resistant
west nile fever
mite infestation
  • mite infestations
- elite association - COSMIC cancer census association via MalaCards
Search DEFA3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DEFA3

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with DEFA3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DEFA3 Gene

Publications for DEFA3 Gene

  1. The structure of neutrophil defensin genes. (PMID: 8477861) Linzmeier R … Ganz T (FEBS letters 1993) 2 3 4 22 58
  2. Inter-population variability of DEFA3 gene absence: correlation with haplotype structure and population variability. (PMID: 17214878) Ballana E … Estivill X (BMC genomics 2007) 2 3 22 58
  3. Copy number polymorphism and expression level variation of the human alpha-defensin genes DEFA1 and DEFA3. (PMID: 15944200) Aldred PM … Armour JA (Human molecular genetics 2005) 2 3 22 58
  4. Risk of meningioma and common variation in genes related to innate immunity. (PMID: 20406964) Rajaraman P … Inskip PD (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2010) 3 44 58
  5. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PMID: 20438785) Han S … Kang D (Human immunology 2010) 3 44 58

Products for DEFA3 Gene

Sources for DEFA3 Gene

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