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 DEFA6 Gene

Aliases for DEFA6 Gene

  • Defensin Alpha 6 2 3 5
  • DEF6 2 3 4
  • Defensin, Alpha 6, Paneth Cell-Specific 2 3
  • Defensin-6 3 4
  • HD-6 2 3
  • Defensin, Alpha 6 4
  • DEFA6 5

External Ids for DEFA6 Gene

Previous GeneCards Identifiers for DEFA6 Gene

  • GC08M006846
  • GC08M007036
  • GC08M006942
  • GC08M006769
  • GC08M006562

Summaries for DEFA6 Gene

Entrez Gene Summary for DEFA6 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 appear to be clustered on chromosome 8. The protein encoded by this gene, defensin, alpha 6, is highly expressed in the secretory granules of Paneth cells of the small intestine, and likely plays a role in host defense of human bowel. [provided by RefSeq, Oct 2014]

GeneCards Summary for DEFA6 Gene

DEFA6 (Defensin Alpha 6) is a Protein Coding gene. Diseases associated with DEFA6 include Acute Vascular Insufficiency Of Intestine. Among its related pathways are Transcriptional misregulation in cancer and Defensins. An important paralog of this gene is DEFA4.

UniProtKB/Swiss-Prot Summary for DEFA6 Gene

  • Has very low antimicrobial activity against Gram-negative and Gram-positive bacteria. May protect cells against infection with HIV-1.

Gene Wiki entry for DEFA6 Gene

Additional gene information for DEFA6 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DEFA6 Gene

Genomics for DEFA6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DEFA6 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
GH08J006926 Promoter 0.3 EPDnew 600.7 0.0 -20 0.1 DEFA6 ENSG00000254625 DEFA4 HSALNG0063168
GH08J006958 Enhancer 1 Ensembl ENCODE dbSUPER 12.7 -29.4 -29425 6.2 CTCF ZNF143 TRIM22 USF1 SPI1 KLF17 ZNF654 FOSL2 SIN3A GLIS1 DEFA6 ENSG00000254625 DEFA8P DEFA9P lnc-DEFA1-2 lnc-DEFA4-1 DEFA4 DEFA1
GH08J006863 Enhancer 1.1 FANTOM5 Ensembl ENCODE 11.1 +59.6 59597 6.2 ZIC2 ESR1 CEBPB FOS JUN RCOR1 GTF2F1 JUND MAX MXI1 DEFB1 DEFA4 DEFA6 DEFA5 ENSG00000245857 piR-59297-624 XKR5
GH08J006900 Enhancer 0.9 Ensembl ENCODE 12.5 +24.8 24811 1.3 GATAD2A TFE3 SOX13 SP1 CEBPA SCRT2 CEBPB TCF7 FOXA2 TEAD1 HSALNG0063168 RPL23AP96 DEFB1 DEFA6 DEFA4 lnc-DEFA6-1
GH08J006856 Enhancer 0.8 Ensembl ENCODE 11.4 +70.3 70275 1.2 CEBPG PRDM1 SP1 BRCA1 NFE2 CEBPB JUN RCOR1 JUND MAX ENSG00000245857 DEFB1 DEFA4 DEFA6 piR-59297-624 XKR5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DEFA6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DEFA6

Top Transcription factor binding sites by QIAGEN in the DEFA6 gene promoter:
  • AREB6
  • C/EBPalpha
  • Nkx2-5
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • TBP

Genomic Locations for DEFA6 Gene

Genomic Locations for DEFA6 Gene
chr8:6,924,697-6,926,076
(GRCh38/hg38)
Size:
1,380 bases
Orientation:
Minus strand
chr8:6,782,215-6,783,598
(GRCh37/hg19)
Size:
1,384 bases
Orientation:
Minus strand

Genomic View for DEFA6 Gene

Genes around DEFA6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DEFA6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DEFA6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DEFA6 Gene

Proteins for DEFA6 Gene

  • Protein details for DEFA6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q01524-DEF6_HUMAN
    Recommended name:
    Defensin-6
    Protein Accession:
    Q01524
    Secondary Accessions:
    • Q6EZF9

    Protein attributes for DEFA6 Gene

    Size:
    100 amino acids
    Molecular mass:
    10975 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for DEFA6 Gene

neXtProt entry for DEFA6 Gene

Post-translational modifications for DEFA6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DEFA6 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DEFA6 Gene

Domains & Families for DEFA6 Gene

Gene Families for DEFA6 Gene

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

Protein Domains for DEFA6 Gene

InterPro:
Blocks:
  • Defensin propeptide
ProtoNet:

Suggested Antigen Peptide Sequences for DEFA6 Gene

GenScript: Design optimal peptide antigens:
  • Defensin, alpha 6 (DEF6_HUMAN)
  • Defensin, alpha 6, preproprotein (Q6EZF9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q01524

UniProtKB/Swiss-Prot:

DEF6_HUMAN :
  • Belongs to the alpha-defensin family.
Family:
  • Belongs to the alpha-defensin family.
genes like me logo Genes that share domains with DEFA6: view

Function for DEFA6 Gene

Molecular function for DEFA6 Gene

UniProtKB/Swiss-Prot Function:
Has very low antimicrobial activity against Gram-negative and Gram-positive bacteria. May protect cells against infection with HIV-1.
GENATLAS Biochemistry:
defensin alpha 6,3-4kDa,enteric Paneth cells,released from azurophil granules of Paneth cells,oxygen independent phagocytosis of Gram+,Gram- bacteria,many fungi,some viruses

Phenotypes From GWAS Catalog for DEFA6 Gene

Gene Ontology (GO) - Molecular Function for DEFA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0042803 protein homodimerization activity IDA 17088326
genes like me logo Genes that share ontologies with DEFA6: view
genes like me logo Genes that share phenotypes with DEFA6: view

Animal Model Products

CRISPR Products

miRNA for DEFA6 Gene

miRTarBase miRNAs that target DEFA6

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DEFA6

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DEFA6 Gene

Localization for DEFA6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEFA6 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 DEFA6 gene
Compartment Confidence
extracellular 5
golgi apparatus 4
plasma membrane 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1

Gene Ontology (GO) - Cellular Components for DEFA6 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 --
genes like me logo Genes that share ontologies with DEFA6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DEFA6 Gene

Pathways & Interactions for DEFA6 Gene

genes like me logo Genes that share pathways with DEFA6: view

Gene Ontology (GO) - Biological Process for DEFA6 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 --
genes like me logo Genes that share ontologies with DEFA6: view

No data available for SIGNOR curated interactions for DEFA6 Gene

Drugs & Compounds for DEFA6 Gene

(1) Additional Compounds for DEFA6 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with DEFA6: view

Transcripts for DEFA6 Gene

mRNA/cDNA for DEFA6 Gene

1 REFSEQ mRNAs :
8 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 DEFA6

Alternative Splicing Database (ASD) splice patterns (SP) for DEFA6 Gene

No ASD Table

Relevant External Links for DEFA6 Gene

GeneLoc Exon Structure for
DEFA6

Expression for DEFA6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DEFA6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DEFA6 Gene

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

Protein differential expression in normal tissues from HIPED for DEFA6 Gene

This gene is overexpressed in Fetal gut (55.3) and Prostate (13.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DEFA6 Gene



Protein tissue co-expression partners for DEFA6 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DEFA6

SOURCE GeneReport for Unigene cluster for DEFA6 Gene:

Hs.711

mRNA Expression by UniProt/SwissProt for DEFA6 Gene:

Q01524-DEF6_HUMAN
Tissue specificity: Paneth cells of the small intestine.

Evidence on tissue expression from TISSUES for DEFA6 Gene

  • Intestine(4.8)
  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with DEFA6: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for DEFA6 Gene

Orthologs for DEFA6 Gene

Evolution for DEFA6 Gene

ENSEMBL:
Gene Tree for DEFA6 (if available)
TreeFam:
Gene Tree for DEFA6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DEFA6: view image

No data available for Orthologs for DEFA6 Gene

Paralogs for DEFA6 Gene

Paralogs for DEFA6 Gene

(6) SIMAP similar genes for DEFA6 Gene using alignment to 1 proteins:

  • DEF6_HUMAN

Pseudogenes.org Pseudogenes for DEFA6 Gene

genes like me logo Genes that share paralogs with DEFA6: view

Variants for DEFA6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DEFA6 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
776283 Benign: not provided 6,925,931(-) C/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for DEFA6 Gene

Structural Variations from Database of Genomic Variants (DGV) for DEFA6 Gene

Variant ID Type Subtype PubMed ID
dgv6878n100 CNV gain 25217958
esv2752262 CNV gain 17911159
esv2759589 CNV gain+loss 17122850
esv3576520 CNV gain 25503493
nsv1015244 CNV gain 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
nsv528374 CNV gain 19592680
nsv610006 CNV gain 21841781
nsv610007 CNV gain 21841781
nsv610010 CNV gain 21841781
nsv831221 CNV gain 17160897

Variation tolerance for DEFA6 Gene

Residual Variation Intolerance Score: 44.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.58; 44.82% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DEFA6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DEFA6

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DEFA6 Gene

Disorders for DEFA6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for DEFA6 Gene - From: DISEASES

Disorder Aliases PubMed IDs
acute vascular insufficiency of intestine
  • acute gastrointestinal tract vascular insuffic.
- elite association - COSMIC cancer census association via MalaCards
Search DEFA6 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DEFA6

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 DEFA6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DEFA6 Gene

Publications for DEFA6 Gene

  1. Defensin-6 mRNA in human Paneth cells: implications for antimicrobial peptides in host defense of the human bowel. (PMID: 8417977) Jones DE … Bevins CL (FEBS letters 1993) 2 3 4 23
  2. 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
  3. Human enteric defensins. Gene structure and developmental expression. (PMID: 8626737) Mallow EB … Bevins CL (The Journal of biological chemistry 1996) 3 4 23
  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 41
  5. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PMID: 20438785) Han S … Kang D (Human immunology 2010) 3 41

Products for DEFA6 Gene

  • Signalway ELISA kits for DEFA6

Sources for DEFA6 Gene