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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
  • Neutrophil Defensin 4 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. Among its related pathways are Defensins and Innate Immune System. An important paralog of this gene is DEFA6.

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 CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08G006863 1.4 FANTOM5 Ensembl ENCODE 11.3 +72.0 71953 6.1 GTF2F1 TBP MXI1 JUN MAX NSD2 ZIC2 RFX5 ZNF316 POLR2A DEFB1 DEFA4 DEFA6 DEFA5 GS1-24F4.2 GC08P006842 PIR50120
GH08G006900 0.8 ENCODE 11.9 +37.0 36978 1.1 SOX13 TFAP4 FOXA2 SAP130 CEBPG ZNF644 ZSCAN9 RARA TEAD3 SCRT2 DEFB1 DEFA6 DEFA4 RPL23AP96
GH08G006856 0.7 ENCODE 11.4 +82.0 82045 0.2 JUN MAX CEBPB CEBPG EP300 BRCA1 RFX5 MAFF JUND STAT3 GS1-24F4.2 DEFB1 DEFA4 DEFA6 GC08P006842 PIR50120
GH08G006903 0.5 ENCODE 11.9 +34.5 34487 1.2 HNF1A SUZ12 HLF ZSCAN4 DEFB1 DEFA6 DEFA4 RPL23AP96
GH08G007026 0.5 ENCODE 10.6 -88.6 -88616 0.2 CTCF HNF4A NR2F6 DEFA5 DEFA4 GC08P007032 PIR60401 DEFA3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DEFA4 on UCSC Golden Path with GeneCards custom track

Genomic Location for DEFA4 Gene

Chromosome:
8
Start:
6,935,820 bp from pter
End:
6,938,338 bp from pter
Size:
2,519 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

Suggested Antigen Peptide Sequences for DEFA4 Gene

GenScript: Design optimal peptide antigens:

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

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

Animal Model Products

miRNA for DEFA4 Gene

miRTarBase miRNAs that target DEFA4

Inhibitory RNA Products

Clone Products

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

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 IEA --
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

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:0006952 defense response IEA --
GO:0019730 antimicrobial humoral response TAS --
GO:0019731 antibacterial humoral response IDA 2500436
GO:0019732 antifungal humoral response IDA 2500436
GO:0031640 killing of cells of other organism 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 11

(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:

Inhibitory RNA Products

Clone Products

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, PaxDb, 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

Primer Products

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 34
  • 98.63 (n)
DEFA7 35
  • 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)

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
rs762433303 A colorectal cancer sample 6,936,093(+) CTGTT(C/T)GCCGG reference, missense
rs1000136823 -- 6,940,135(+) GGAAA(C/G)CATGA upstream-variant-2KB
rs1000426606 -- 6,936,426(+) TGTTG(A/G)CAGAA intron-variant
rs1000485794 -- 6,937,994(+) CTTTA(C/T)TGGAC intron-variant
rs1001359090 -- 6,939,870(+) ACAGA(A/G)CACAC upstream-variant-2KB

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)

Relevant External Links for DEFA4 Gene

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

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

Disorders for DEFA4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for DEFA4 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
intestinal perforation
  • perforation of intestine
- 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)
DEFA4
Human Genome Epidemiology (HuGE) Navigator
DEFA4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DEFA4
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 22 64
  2. Human neutrophil alpha-defensin 4 inhibits HIV-1 infection in vitro. (PMID: 15620707) Wu Z. … Lu W. (FEBS Lett. 2005) 3 4 22 64
  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 46 64
  4. Risk of meningioma and common variation in genes related to innate immunity. (PMID: 20406964) Rajaraman P. … Inskip P.D. (Cancer Epidemiol. Biomarkers Prev. 2010) 3 46 64
  5. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PMID: 20438785) Han S. … Kang D. (Hum. Immunol. 2010) 3 46 64

Products for DEFA4 Gene

Sources for DEFA4 Gene

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