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Aliases for DEFA5 Gene

Aliases for DEFA5 Gene

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

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 Gastritis and Acute Inflammation Of Lacrimal Passage. Among its related pathways are Immune System and Defensins. An important paralog of this gene is DEFA3.

UniProtKB/Swiss-Prot 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DEFA5 Gene

Genomics for DEFA5 Gene

Regulatory Elements for DEFA5 Gene

Enhancers for DEFA5 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 DEFA5 on UCSC Golden Path with GeneCards custom track

Genomic Location for DEFA5 Gene

Chromosome:
8
Start:
7,055,300 bp from pter
End:
7,056,739 bp from pter
Size:
1,440 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

Proteomics data for DEFA5 Gene at MOPED

Post-translational modifications for DEFA5 Gene

Other Protein References for DEFA5 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for DEFA5 Gene

Domains & Families for DEFA5 Gene

Gene Families for DEFA5 Gene

Protein Domains for DEFA5 Gene

Suggested Antigen Peptide Sequences for DEFA5 Gene

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

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
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.
genes like me logo Genes that share phenotypes with DEFA5: view

Animal Model Products

miRNA for DEFA5 Gene

miRTarBase miRNAs that target DEFA5

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for DEFA5 Gene COMPARTMENTS Subcellular localization image for DEFA5 gene
Compartment Confidence
extracellular 5
golgi apparatus 4

Gene Ontology (GO) - Cellular Components for DEFA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0034774 secretory granule lumen TAS --
genes like me logo Genes that share ontologies with DEFA5: view

Pathways & Interactions for DEFA5 Gene

SuperPathways for DEFA5 Gene

Superpath Contained pathways
1 Defensins
.82
2 Immune System
genes like me logo Genes that share pathways with DEFA5: view

Pathways by source for DEFA5 Gene

4 Reactome pathways for DEFA5 Gene

Gene Ontology (GO) - Biological Process for DEFA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031640 killing of cells of other organism IEA --
GO:0045087 innate immune response TAS --
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 :
(2) Additional mRNA sequences :
(22) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DEFA5 Gene

Defensin, alpha 5, Paneth cell-specific:
Representative Sequences:

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

No ASD Table

Relevant External Links for DEFA5 Gene

GeneLoc Exon Structure for
DEFA5
ECgene alternative splicing isoforms for
DEFA5

Expression for DEFA5 Gene

mRNA expression in normal human tissues 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, PaxDb, and MOPED for DEFA5 Gene



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).
genes like me logo Genes that share expression patterns with DEFA5: view

Protein tissue co-expression partners for DEFA5 Gene

Primer Products

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 35
  • 97.52 (n)
  • 94.68 (a)
DEFA5 36
  • 95 (a)
OneToOne
Species with no ortholog for DEFA5:
  • 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 DEFA5 Gene

ENSEMBL:
Gene Tree for DEFA5 (if available)
TreeFam:
Gene Tree for DEFA5 (if available)

Paralogs for DEFA5 Gene

Paralogs for DEFA5 Gene

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

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

Variants for DEFA5 Gene

Sequence variations from dbSNP and Humsavar for DEFA5 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs7839771 - 7,055,504(+) CACAA(C/G/T)GGCCG reference, missense
rs2272719 -- 7,055,509(-) CGAAC(C/T)GGCCG reference, synonymous-codon
rs10095331 -- 7,056,328(+) TTGGA(A/G)CTGAA intron-variant
rs10098290 -- 7,056,362(+) TTAGA(C/T)TTATT intron-variant
rs10557092 -- 7,058,581(+) CCTTC(-/T)TTTTT upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv465436 CNV Gain 19166990
esv2752262 CNV Gain 17911159
dgv7657n71 CNV Gain 21882294
nsv428194 CNV Gain+Loss 18775914
nsv528374 CNV Gain 19592680
essv14510 CNV CNV 17122850
dgv2191e1 CNV Complex 17122850
nsv831221 CNV Gain 17160897
nsv890069 CNV Gain 21882294
nsv890071 CNV Gain 21882294
nsv465438 CNV Gain 19166990
nsv470180 CNV Gain 18288195
nsv515968 CNV Gain+Loss 19592680
nsv821656 CNV Gain 15273396
dgv7658n71 CNV Loss 21882294
dgv2192e1 CNV Complex 17122850
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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for DEFA5 Gene

Disorders for DEFA5 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
gastritis
  • acute gastric mucosal erosion
acute inflammation of lacrimal passage
dacryocystitis
- elite association - COSMIC cancer census association via MalaCards
Search DEFA5 in MalaCards View complete list of genes associated with diseases

Relevant External Links for DEFA5

Genetic Association Database (GAD)
DEFA5
Human Genome Epidemiology (HuGE) Navigator
DEFA5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DEFA5
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 D.E. … Bevins C.L. (J. Biol. Chem. 1992) 2 3 4 23 67
  2. Enteric defensins are essential regulators of intestinal microbial ecology. (PMID: 19855381) Salzman N.H. … Bos N.A. (Nat. Immunol. 2010) 3 23
  3. Precursor processing of human defensin-5 is essential to the multiple functions in vitro and in vivo. (PMID: 20375624) Ishikawa C. … Kohgo Y. (J Innate Immun 2010) 3 23
  4. Multivalent binding of carbohydrates by the human alpha-defensin, HD5. (PMID: 19542459) Lehrer R.I. … Lu W. (J. Immunol. 2009) 3 23
  5. Selective arginines are important for the antibacterial activity and host cell interaction of human alpha-defensin 5. (PMID: 19589339) de Leeuw E. … Lu W. (FEBS Lett. 2009) 3 23

Products for DEFA5 Gene

Sources for DEFA5 Gene

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