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 conse... See more...

Aliases for DEFA4 Gene

Aliases for DEFA4 Gene

  • Defensin Alpha 4 2 3 5
  • Defensin, Alpha 4, Corticostatin 2 3
  • Neutrophil Defensin 4 3 4
  • 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 Igg4-Related Disease. Among its related pathways are NOD-like receptor signaling pathway and Defensins. An important paralog of this gene is DEFA6.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for DEFA4 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DEFA4 Gene

Genomics for DEFA4 Gene

GeneHancer (GH) Regulatory Elements for DEFA4 Gene

Promoters and enhancers for DEFA4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J006928 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE dbSUPER 750.6 -1.3 -1263 22.8 CTCF MAX RAD21 REST MNT TRIM22 SCRT2 ZNF157 RUNX3 USF1 DEFA4 DEFB1 FAM66B ENSG00000246089 OR7E154P FAM90A20P DEFA5 HSALNG0063171 ENSG00000254625 lnc-DEFA4-1
GH08J006863 Enhancer 1 FANTOM5 Ensembl ENCODE 11.3 +71.9 71859 6.2 ZIC2 CEBPB JUN RCOR1 JUND MAX MXI1 EP300 RFX5 STAT3 DEFB1 DEFA4 DEFA6 DEFA5 ENSG00000245857 piR-59297-624
GH08J006900 Enhancer 0.9 Ensembl ENCODE 11.9 +37.1 37073 1.3 NR2F6 CREB1 TFE3 CEBPG ZNF644 CEBPA SOX13 GATAD2A SP1 CEBPB HSALNG0063168 RPL23AP96 DEFB1 DEFA6 DEFA4 lnc-DEFA6-1
GH08J006856 Enhancer 0.8 Ensembl ENCODE 11.5 +82.5 82537 1.2 PRDM1 CEBPG BRCA1 CEBPB JUN RCOR1 NFE2 JUND MAX SP1 ENSG00000245857 DEFB1 DEFA4 DEFA6 piR-59297-624
GH08J006903 Enhancer 0.7 Ensembl ENCODE 11.9 +34.9 34920 2 RBPJ HLF HNF1A ZSCAN4 SP1 TEAD1 TEAD3 ERF HSALNG0063168 lnc-DEFA6-1 DEFB1 DEFA6 DEFA4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DEFA4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DEFA4 gene promoter:
  • AREB6
  • ER-alpha
  • POU2F1
  • POU2F1a
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)

Genomic Locations for DEFA4 Gene

Genomic Locations for DEFA4 Gene
chr8:6,935,820-6,938,338
(GRCh38/hg38)
Size:
2,519 bases
Orientation:
Minus strand
chr8:6,793,344-6,795,860
(GRCh37/hg19)
Size:
2,517 bases
Orientation:
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:
    P12838-DEF4_HUMAN
    Recommended name:
    Neutrophil defensin 4
    Protein Accession:
    P12838
    Secondary Accessions:
    • Q6EZF8

    Protein attributes for DEFA4 Gene

    Size:
    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

Post-translational modifications for DEFA4 Gene

No Post-translational modifications

Other Protein References for DEFA4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DEFA4 Gene

Domains & Families for DEFA4 Gene

Gene Families for DEFA4 Gene

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

Protein Domains for DEFA4 Gene

Suggested Antigen Peptide Sequences for DEFA4 Gene

GenScript: Design optimal peptide antigens:
  • HNP-4 (DEF4_HUMAN)
  • Defensin, alpha 4, corticostatin (Q6EZF8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P12838

UniProtKB/Swiss-Prot:

DEF4_HUMAN :
  • Belongs to the alpha-defensin family.
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

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.
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

Phenotypes From GWAS Catalog for DEFA4 Gene

Gene Ontology (GO) - Molecular Function for DEFA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042803 protein homodimerization activity IDA 17088326
genes like me logo Genes that share ontologies with DEFA4: view
genes like me logo Genes that share phenotypes with DEFA4: view

Animal Model Products

CRISPR Products

miRNA for DEFA4 Gene

miRTarBase miRNAs that target DEFA4

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DEFA4

No data available for Enzyme Numbers (IUBMB) , 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

Secreted.

Subcellular locations from

COMPARTMENTS
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 DEFA4 gene
Compartment Confidence
extracellular 5
lysosome 5
golgi apparatus 4

Gene Ontology (GO) - Cellular Components for DEFA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IBA 21873635
GO:0005796 Golgi lumen TAS --
GO:0035580 specific granule lumen TAS --
GO:0042582 azurophil granule IDA 2500436
genes like me logo Genes that share ontologies with DEFA4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DEFA4 Gene

Pathways & Interactions for DEFA4 Gene

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

Pathways by source for DEFA4 Gene

Gene Ontology (GO) - Biological Process for DEFA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002227 innate immune response in mucosa IBA 21873635
GO:0006952 defense response IEA --
GO:0019730 antimicrobial humoral response IDA,TAS --
GO:0019731 antibacterial humoral response IDA,IBA 2500436
GO:0019732 antifungal humoral response IDA 2500436
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 Experimental Pharma 16

(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 :
(6) Additional mRNA sequences :
(19) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DEFA4

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

No ASD Table

Relevant External Links for DEFA4 Gene

GeneLoc Exon Structure for
DEFA4
ECgene alternative splicing isoforms for
DEFA4

Expression for DEFA4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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 and MOPED for DEFA4 Gene



Protein tissue co-expression partners for DEFA4 Gene

NURSA nuclear receptor signaling pathways regulating expression of DEFA4 Gene:

DEFA4

SOURCE GeneReport for Unigene cluster for DEFA4 Gene:

Hs.591391

Evidence on tissue expression from TISSUES for DEFA4 Gene

  • Bone marrow(4.6)
  • Lung(4.2)
  • Heart(4)
genes like me logo Genes that share expression patterns with DEFA4: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia DEFA4 32
  • 98.63 (n)
DEFA7 33
  • 49 (a)
OneToOne
Species where no ortholog for DEFA4 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 DEFA4 Gene

ENSEMBL:
Gene Tree for DEFA4 (if available)
TreeFam:
Gene Tree for DEFA4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DEFA4: view image

Paralogs for DEFA4 Gene

Paralogs for DEFA4 Gene

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

  • DEF4_HUMAN
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 Variation AA Info Type
rs762433303 A colorectal cancer sample 6,936,093(-) C/T coding_sequence_variant, missense_variant
rs1000136823 -- 6,940,135(-) G/C upstream_transcript_variant
rs1000426606 -- 6,936,426(-) G/A intron_variant
rs1000485794 -- 6,937,994(-) T/C intron_variant
rs1001359090 -- 6,939,870(-) A/G upstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
dgv11906n54 CNV loss 21841781
dgv1199e201 CNV deletion 23290073
dgv2030e212 CNV loss 25503493
dgv6878n100 CNV gain 25217958
esv2662366 CNV deletion 23128226
esv2752262 CNV gain 17911159
esv2759589 CNV gain+loss 17122850
esv2764078 CNV loss 21179565
esv3576520 CNV gain 25503493
esv3616103 CNV loss 21293372
nsv1015244 CNV gain 25217958
nsv1019061 CNV loss 25217958
nsv1021684 CNV loss 25217958
nsv1031577 CNV gain 25217958
nsv428194 CNV gain+loss 18775914
nsv465436 CNV gain 19166990
nsv465437 CNV gain 19166990
nsv509248 CNV insertion 20534489
nsv524367 CNV loss 19592680
nsv528374 CNV gain 19592680
nsv610006 CNV gain 21841781
nsv610007 CNV gain 21841781
nsv610010 CNV gain 21841781
nsv610012 CNV loss 21841781
nsv831221 CNV gain 17160897

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)

Additional Variant Information for DEFA4 Gene

Human Gene Mutation Database (HGMD)
DEFA4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DEFA4

SNP Genotyping and Copy Number Assay Products

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: HGMD and DISEASES

Disorder Aliases PubMed IDs
intestinal perforation
  • perforation of intestine
igg4-related disease
  • mediastinal fibrosis, familial
- elite association - COSMIC cancer census association via MalaCards
Search DEFA4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DEFA4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 RG … Solomon S (Molecular endocrinology (Baltimore, Md.) 1993) 2 3 4 23 56
  2. Human neutrophil alpha-defensin 4 inhibits HIV-1 infection in vitro. (PMID: 15620707) Wu Z … Lu W (FEBS letters 2005) 3 4 23 56
  3. Polymorphisms in innate immunity genes and patients response to dendritic cell-based HIV immuno-treatment. (PMID: 20056178) Segat L … Crovella S (Vaccine 2010) 3 43 56
  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 43 56
  5. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PMID: 20438785) Han S … Kang D (Human immunology 2010) 3 43 56

Products for DEFA4 Gene

  • Biorbyt antibodies for DEFA4

Sources for DEFA4 Gene