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 DEFA5 Gene

Aliases for DEFA5 Gene

  • Defensin Alpha 5 2 3 5
  • Defensin, Alpha 5, Paneth Cell-Specific 2 3
  • Defensin-5 3 4
  • HD5(20-94) 3 4
  • DEF5 3 4
  • HD-5 2 3
  • Defensin, Alpha 5, Preproprotein 3
  • Defensin, Alpha 5 4
  • DEFA5 5

External Ids for DEFA5 Gene

Previous HGNC Symbols for DEFA5 Gene

  • DEF5

Previous GeneCards Identifiers for DEFA5 Gene

  • GC08M006957
  • GC08M007149
  • GC08M006900
  • GC08M006654

Summaries for DEFA5 Gene

Entrez Gene Summary for DEFA5 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 of the alpha defensin genes appear to be clustered on chromosome 8. The protein encoded by this gene, defensin, alpha 5, is highly expressed in the secretory granules of Paneth cells of the ileum. [provided by RefSeq, Oct 2014]

GeneCards Summary for DEFA5 Gene

DEFA5 (Defensin Alpha 5) is a Protein Coding gene. Diseases associated with DEFA5 include Urethritis and Gastritis. Among its related pathways are Transcriptional misregulation in cancer and Defensins. An important paralog of this gene is DEFA4.

UniProtKB/Swiss-Prot Summary for DEFA5 Gene

  • Has antimicrobial activity against Gram-negative and Gram-positive bacteria. Defensins are thought to kill microbes by permeabilizing their plasma membrane. All DEFA5 peptides exert antimicrobial activities, but their potency is affected by peptide processing.

Gene Wiki entry for DEFA5 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DEFA5 Gene

Genomics for DEFA5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DEFA5 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
GH08J007056 Promoter 0.3 EPDnew 600.7 0.0 -18 0.1 DEFA5 piR-35892-001 DEFB109B
GH08J006863 Enhancer 1.1 FANTOM5 Ensembl ENCODE 10.5 +190.3 190260 6.2 ZIC2 ESR1 CEBPB FOS JUN RCOR1 GTF2F1 JUND MAX MXI1 DEFB1 DEFA4 DEFA6 DEFA5 ENSG00000245857 piR-59297-624 XKR5
GH08J007035 Enhancer 0.7 Ensembl ENCODE 12.2 +20.8 20772 0.5 CTCF REST RAD21 SMC3 SPI1 ZNF384 ZNF654 ZNF143 YY1 ZNF362 DEFA5 piR-38580-330 DEFA11P lnc-DEFA3-2 DEFA3
GH08J006909 Enhancer 0.8 Ensembl ENCODE 10 +146.6 146572 2.5 FOXA1 ZNF24 ATF7 MNT SP1 RFX1 CTBP1 NFE2 ZNF316 MAFF DEFB1 DEFA5 OR7E125P HSALNG0063168 lnc-DEFA6-1 DEFA6
GH08J006928 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE dbSUPER 5.6 +117.1 117138 22.8 CTCF RAD21 REST TRIM22 SCRT2 MNT CEBPB RUNX3 ZNF157 USF1 DEFA4 DEFB1 FAM66B ENSG00000246089 OR7E154P FAM90A20P DEFA5 HSALNG0063171 DEFA8P ENSG00000254625
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DEFA5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DEFA5

Top Transcription factor binding sites by QIAGEN in the DEFA5 gene promoter:
  • FOXC1
  • FOXF2
  • POU2F1
  • POU2F1a

Genomic Locations for DEFA5 Gene

Genomic Locations for DEFA5 Gene
chr8:7,055,304-7,056,739
(GRCh38/hg38)
Size:
1,436 bases
Orientation:
Minus strand
chr8:6,912,829-6,914,259
(GRCh37/hg19)
Size:
1,431 bases
Orientation:
Minus strand

Genomic View for DEFA5 Gene

Genes around DEFA5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DEFA5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DEFA5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DEFA5 Gene

Proteins for DEFA5 Gene

  • Protein details for DEFA5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q01523-DEF5_HUMAN
    Recommended name:
    Defensin-5
    Protein Accession:
    Q01523
    Secondary Accessions:
    • A0JDY6
    • Q3KNV2

    Protein attributes for DEFA5 Gene

    Size:
    94 amino acids
    Molecular mass:
    10071 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for DEFA5 Gene

neXtProt entry for DEFA5 Gene

Post-translational modifications for DEFA5 Gene

Other Protein References for DEFA5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DEFA5 Gene

Domains & Families for DEFA5 Gene

Gene Families for DEFA5 Gene

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

Protein Domains for DEFA5 Gene

InterPro:
Blocks:
  • Defensin propeptide
ProtoNet:

Suggested Antigen Peptide Sequences for DEFA5 Gene

GenScript: Design optimal peptide antigens:
  • Defensin, alpha 5, Paneth cell-specific (A0JDY6_HUMAN)
  • Defensin, alpha 5 (DEF5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q01523

UniProtKB/Swiss-Prot:

DEF5_HUMAN :
  • Belongs to the alpha-defensin family.
Family:
  • Belongs to the alpha-defensin family.
genes like me logo Genes that share domains with DEFA5: view

Function for DEFA5 Gene

Molecular function for DEFA5 Gene

UniProtKB/Swiss-Prot Function:
Has antimicrobial activity against Gram-negative and Gram-positive bacteria. Defensins are thought to kill microbes by permeabilizing their plasma membrane. All DEFA5 peptides exert antimicrobial activities, but their potency is affected by peptide processing.
GENATLAS Biochemistry:
defensin alpha 5,3-4kDa,enteric Paneth cells,released from azurophil granules of Paneth cells,oxygen independent phagocytosis of Gram+,Gram- bacteria,many fungi,some viruses,colocolazing and regulated in mice with matrilysin (MMP7) in innate host defense

Phenotypes From GWAS Catalog for DEFA5 Gene

Gene Ontology (GO) - Molecular Function for DEFA5 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 DEFA5: view
genes like me logo Genes that share phenotypes with DEFA5: view

Animal Model Products

CRISPR Products

miRNA for DEFA5 Gene

miRTarBase miRNAs that target DEFA5

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DEFA5

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DEFA5 Gene

Localization for DEFA5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEFA5 Gene

Secreted. Cytoplasmic vesicle, secretory vesicle. Note=Peptides HD5(20-94), HD5(23-94) and HD5(29-94) are found within tissues, HD5(20-94) being the predominant intracellular form. Peptides HD5(56-94) and HD5(63-94) are found in the extracellular milieu, HD5(63-94) being the most abundant form.

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 DEFA5 gene
Compartment Confidence
extracellular 5
golgi apparatus 4
plasma membrane 2
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Midbody (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DEFA5 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:0030133 transport vesicle IEA --
GO:0030496 midbody IDA --
genes like me logo Genes that share ontologies with DEFA5: view

Pathways & Interactions for DEFA5 Gene

genes like me logo Genes that share pathways with DEFA5: view

Gene Ontology (GO) - Biological Process for DEFA5 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 TAS --
GO:0019731 antibacterial humoral response IBA 21873635
GO:0031640 killing of cells of other organism IEA,IDA 15616305
genes like me logo Genes that share ontologies with DEFA5: view

No data available for SIGNOR curated interactions for DEFA5 Gene

Drugs & Compounds for DEFA5 Gene

(1) Additional Compounds for DEFA5 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with DEFA5: view

Transcripts for DEFA5 Gene

mRNA/cDNA for DEFA5 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
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 DEFA5

Alternative Splicing Database (ASD) splice patterns (SP) for DEFA5 Gene

No ASD Table

Relevant External Links for DEFA5 Gene

GeneLoc Exon Structure for
DEFA5

Expression for DEFA5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DEFA5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DEFA5 Gene

This gene is overexpressed in Small Intestine - Terminal Ileum (x52.9).

Protein differential expression in normal tissues from HIPED for DEFA5 Gene

This gene is overexpressed in Pancreatic juice (62.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DEFA5 Gene



Protein tissue co-expression partners for DEFA5 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DEFA5

SOURCE GeneReport for Unigene cluster for DEFA5 Gene:

Hs.655233

mRNA Expression by UniProt/SwissProt for DEFA5 Gene:

Q01523-DEF5_HUMAN
Tissue specificity: Paneth cells of the small intestine (at protein level).

Evidence on tissue expression from TISSUES for DEFA5 Gene

  • Intestine(4.9)
  • Lung(2.1)
genes like me logo Genes that share expression patterns with DEFA5: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for DEFA5 Gene

Orthologs for DEFA5 Gene

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

Orthologs for DEFA5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DEFA5 30 31
  • 97.52 (n)
OneToOne
Species where no ortholog for DEFA5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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 DEFA5 Gene

ENSEMBL:
Gene Tree for DEFA5 (if available)
TreeFam:
Gene Tree for DEFA5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DEFA5: view image

Paralogs for DEFA5 Gene

Paralogs for DEFA5 Gene

(6) SIMAP similar genes for DEFA5 Gene using alignment to 1 proteins:

  • DEF5_HUMAN
genes like me logo Genes that share paralogs with DEFA5: view

Variants for DEFA5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DEFA5 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
780127 Benign: not provided 7,055,504(-) C/T MISSENSE_VARIANT
rs7839771 - p.Arg71His

Additional dbSNP identifiers (rs#s) for DEFA5 Gene

Structural Variations from Database of Genomic Variants (DGV) for DEFA5 Gene

Variant ID Type Subtype PubMed ID
dgv6878n100 CNV gain 25217958
dgv6879n100 CNV gain 25217958
dgv6881n100 CNV gain 25217958
dgv6882n100 CNV gain 25217958
dgv6883n100 CNV gain 25217958
esv2752262 CNV gain 17911159
esv2759589 CNV gain+loss 17122850
esv2761169 CNV gain+loss 21179565
esv3576520 CNV gain 25503493
esv3616104 CNV gain 21293372
esv3891316 CNV loss 25118596
esv3891317 CNV gain 25118596
nsv1015244 CNV gain 25217958
nsv1016920 CNV gain 25217958
nsv1031577 CNV gain 25217958
nsv1161708 CNV deletion 26073780
nsv428194 CNV gain+loss 18775914
nsv465436 CNV gain 19166990
nsv465438 CNV gain 19166990
nsv470180 CNV gain 18288195
nsv515968 CNV gain+loss 19592680
nsv528374 CNV gain 19592680
nsv610006 CNV gain 21841781
nsv610010 CNV gain 21841781
nsv610033 CNV gain 21841781
nsv821656 CNV gain 15273396
nsv831221 CNV gain 17160897
nsv831222 CNV loss 17160897

Variation tolerance for DEFA5 Gene

Residual Variation Intolerance Score: 78.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.33; 7.37% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DEFA5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DEFA5

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DEFA5 Gene

Disorders for DEFA5 Gene

MalaCards: The human disease database

(9) MalaCards diseases for DEFA5 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
urethritis
  • non-gonococcal urethritis
gastritis
  • acute gastric mucosal erosion
vulvovaginal candidiasis
  • candidal vulvovaginitis
salmonellosis
  • salmonella infection
bacterial vaginosis
  • vaginosis, bacterial
- elite association - COSMIC cancer census association via MalaCards
Search DEFA5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DEFA5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with DEFA5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DEFA5 Gene

Publications for DEFA5 Gene

  1. Paneth cells of the human small intestine express an antimicrobial peptide gene. (PMID: 1429669) Jones DE … Bevins CL (The Journal of biological chemistry 1992) 2 3 4 23
  2. Single nucleotide polymorphisms in human Paneth cell defensin A5 may confer susceptibility to inflammatory bowel disease in a New Zealand Caucasian population. (PMID: 18394979) Ferguson LR … Philpott M (Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver 2008) 3 23 41
  3. Crystal structures of human alpha-defensins HNP4, HD5, and HD6. (PMID: 17088326) Szyk A … Lubkowski J (Protein science : a publication of the Protein Society 2006) 3 4 23
  4. Antibacterial activity and specificity of the six human {alpha}-defensins. (PMID: 15616305) Ericksen B … Lehrer RI (Antimicrobial agents and chemotherapy 2005) 3 4 23
  5. Precursor processing of human defensin-5 is essential to the multiple functions in vitro and in vivo. (PMID: 20375624) Ishikawa C … Kohgo Y (Journal of innate immunity 2010) 3 23

Products for DEFA5 Gene

Sources for DEFA5 Gene