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Aliases for DEFA4 Gene

Aliases for DEFA4 Gene

  • Defensin Alpha 4 2 3 5
  • Defensin, Alpha 4, Corticostatin 2 3
  • HNP-4 3 4
  • DEF4 3 4
  • HP-4 3 4
  • Defensin, Alpha 4, Preproprotein 3
  • Defensin, Alpha 4 4
  • Corticostatin 3
  • HP4 3

External Ids for DEFA4 Gene

Previous HGNC Symbols for DEFA4 Gene

  • DEF4

Previous GeneCards Identifiers for DEFA4 Gene

  • GC08M006857
  • GC08M007047
  • GC08M006953
  • GC08M006780
  • GC08M006572

Summaries for DEFA4 Gene

Entrez Gene Summary for DEFA4 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. Several alpha defensin genes are clustered on chromosome 8. This gene differs from other genes of this family by an extra 83-base segment that is apparently the result of a recent duplication within the coding region. The protein encoded by this gene, defensin, alpha 4, is found in the neutrophils; it exhibits corticostatic activity and inhibits corticotropin stimulated corticosterone production. [provided by RefSeq, Oct 2014]

GeneCards Summary for DEFA4 Gene

DEFA4 (Defensin Alpha 4) is a Protein Coding gene. Diseases associated with DEFA4 include Intestinal Perforation and Clostridium Difficile Colitis. Among its related pathways are Immune System and Defensins. An important paralog of this gene is DEFA3.

UniProtKB/Swiss-Prot for DEFA4 Gene

  • Has antimicrobial activity against Gram-negative bacteria, and to a lesser extent also against Gram-positive bacteria and fungi. Protects blood cells against infection with HIV-1 (in vitro). Inhibits corticotropin (ACTH)-stimulated corticosterone production.

Gene Wiki entry for DEFA4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DEFA4 Gene

Genomics for DEFA4 Gene

Regulatory Elements for DEFA4 Gene

Enhancers for DEFA4 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 DEFA4 on UCSC Golden Path with GeneCards custom track

Promoters for DEFA4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DEFA4 on UCSC Golden Path with GeneCards custom track

Genomic Location for DEFA4 Gene

6,935,820 bp from pter
6,938,338 bp from pter
2,519 bases
Minus strand

Genomic View for DEFA4 Gene

Genes around DEFA4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DEFA4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DEFA4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DEFA4 Gene

Proteins for DEFA4 Gene

  • Protein details for DEFA4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Neutrophil defensin 4
    Protein Accession:
    Secondary Accessions:
    • Q6EZF8

    Protein attributes for DEFA4 Gene

    97 amino acids
    Molecular mass:
    10504 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for DEFA4 Gene

neXtProt entry for DEFA4 Gene

Proteomics data for DEFA4 Gene at MOPED

Post-translational modifications for DEFA4 Gene

No Post-translational modifications

Other Protein References for DEFA4 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for DEFA4 Gene

Domains & Families for DEFA4 Gene

Gene Families for DEFA4 Gene

Protein Domains for DEFA4 Gene

Suggested Antigen Peptide Sequences for DEFA4 Gene

GenScript: Design optimal peptide antigens:

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 DEFA4: view

Function for DEFA4 Gene

Molecular function for DEFA4 Gene

GENATLAS Biochemistry:
defensin alpha 4,3-4kDa,hematopoietic,released from azurophil granules of neutrophiles,oxygen independent phagocytosis of Gram+,Gram- bacteria,many fungi,some viruses
UniProtKB/Swiss-Prot Function:
Has antimicrobial activity against Gram-negative bacteria, and to a lesser extent also against Gram-positive bacteria and fungi. Protects blood cells against infection with HIV-1 (in vitro). Inhibits corticotropin (ACTH)-stimulated corticosterone production.

Phenotypes for DEFA4 Gene

genes like me logo Genes that share phenotypes with DEFA4: view

Animal Model Products

miRNA for DEFA4 Gene

miRTarBase miRNAs that target DEFA4

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DEFA4 Gene

Localization for DEFA4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEFA4 Gene


Subcellular locations from

Jensen Localization Image for DEFA4 Gene COMPARTMENTS Subcellular localization image for DEFA4 gene
Compartment Confidence
extracellular 5
lysosome 5
vacuole 5
golgi apparatus 4

No data available for Gene Ontology (GO) - Cellular Components for DEFA4 Gene

Pathways & Interactions for DEFA4 Gene

SuperPathways for DEFA4 Gene

Superpath Contained pathways
1 Defensins
2 Immune System
genes like me logo Genes that share pathways with DEFA4: view

Pathways by source for DEFA4 Gene

4 Reactome pathways for DEFA4 Gene

Interacting Proteins for DEFA4 Gene

STRING Interaction Network Preview (showing 4 interactants - click image to see details)
Selected Interacting proteins: ENSP00000297435 for DEFA4 Gene via STRING

Gene Ontology (GO) - Biological Process for DEFA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031640 killing of cells of other organism IEA --
GO:0045087 innate immune response TAS --
GO:0050829 defense response to Gram-negative bacterium IDA 2500436
GO:0050832 defense response to fungus IEA --
genes like me logo Genes that share ontologies with DEFA4: view

No data available for SIGNOR curated interactions for DEFA4 Gene

Drugs & Compounds for DEFA4 Gene

(1) Drugs for DEFA4 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Corticosterone Pharma Endogenous glucocorticoid 10

(1) Additional Compounds for DEFA4 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with DEFA4: view

Transcripts for DEFA4 Gene

mRNA/cDNA for DEFA4 Gene

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

Unigene Clusters for DEFA4 Gene

Defensin, alpha 4, corticostatin:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DEFA4 Gene

No ASD Table

Relevant External Links for DEFA4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DEFA4 Gene

mRNA expression in normal human tissues for DEFA4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DEFA4 Gene

This gene is overexpressed in Whole Blood (x47.0).

Protein differential expression in normal tissues from HIPED for DEFA4 Gene

This gene is overexpressed in Cervix (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for DEFA4 Gene

SOURCE GeneReport for Unigene cluster for DEFA4 Gene Hs.591391

genes like me logo Genes that share expression patterns with DEFA4: view

Protein tissue co-expression partners for DEFA4 Gene

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for DEFA4 Gene

Orthologs for DEFA4 Gene

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

Orthologs for DEFA4 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia DEFA4 35
  • 98.63 (n)
  • 98.97 (a)
DEFA7 36
  • 49 (a)
Species with no ortholog for DEFA4:
  • 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 DEFA4 Gene

Gene Tree for DEFA4 (if available)
Gene Tree for DEFA4 (if available)

Paralogs for DEFA4 Gene

Paralogs for DEFA4 Gene

(6) SIMAP similar genes for DEFA4 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with DEFA4: view

Variants for DEFA4 Gene

Sequence variations from dbSNP and Humsavar for DEFA4 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
VAR_036315 A colorectal cancer sample
rs28661751 - 6,936,878(+) AGCAG(A/C/G/T)GAGGA reference, missense
rs28488529 - 6,936,877(+) TAGCA(A/G)CGAGG reference, missense
rs2239667 -- 6,936,685(-) AGAGA(C/T)GGATG intron-variant
rs2239668 -- 6,936,497(-) AGATA(C/T)GGAGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DEFA4 Gene

Variant ID Type Subtype PubMed ID
nsv465436 CNV Gain 19166990
esv2752262 CNV Gain 17911159
nsv465437 CNV Gain 19166990
dgv7656n71 CNV Gain 21882294
nsv890064 CNV Gain 21882294
dgv7657n71 CNV Gain 21882294
nsv428194 CNV Gain+Loss 18775914
nsv528374 CNV Gain 19592680
dgv2190e1 CNV Complex 17122850
essv14510 CNV CNV 17122850
dgv2191e1 CNV Complex 17122850
nsv831221 CNV Gain 17160897
nsv509248 CNV Insertion 20534489
nsv524367 CNV Loss 19592680
esv2662366 CNV Deletion 23128226
dgv1247e201 CNV Deletion 23290073
nsv890068 CNV Gain 21882294

Variation tolerance for DEFA4 Gene

Residual Variation Intolerance Score: 84.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.38; 63.54% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DEFA4 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DEFA4 Gene

Disorders for DEFA4 Gene

MalaCards: The human disease database

(2) MalaCards diseases for DEFA4 Gene - From: DISEASES

Disorder Aliases PubMed IDs
intestinal perforation
  • perforation of intestine
clostridium difficile colitis
  • pseudomembranous colitis
- elite association - COSMIC cancer census association via MalaCards
Search DEFA4 in MalaCards View complete list of genes associated with diseases

Relevant External Links for DEFA4

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with DEFA4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DEFA4 Gene

Publications for DEFA4 Gene

  1. The gene encoding the human corticostatin HP-4 precursor contains a recent 86-base duplication and is located on chromosome 8. (PMID: 8469233) Palfree R.G.E. … Solomon S. (Mol. Endocrinol. 1993) 2 3 4 23 67
  2. Human neutrophil alpha-defensin 4 inhibits HIV-1 infection in vitro. (PMID: 15620707) Wu Z. … Lu W. (FEBS Lett. 2005) 3 23
  3. Human I+-defensin (DEFA) gene expression helps to characterise benign and malignant salivary gland tumours. (PMID: 23050799) Winter J. … Wenghoefer M. (BMC Cancer 2012) 3
  4. I+-defensin 1-3 and I+-defensin 4 as predictive markers of imatinib resistance and relapse in CML patients. (PMID: 21734341) Etienne G. … Turcq B. (Dis. Markers 2011) 3
  5. Polymorphisms in PARP, IL1B, IL4, IL10, C1INH, DEFB1, and DEFA4 in meningococcal disease in three populations. (PMID: 20016407) Emonts M. … de Groot R. (Shock 2010) 3

Products for DEFA4 Gene

Sources for DEFA4 Gene