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Aliases for DEFA6 Gene

Aliases for DEFA6 Gene

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

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. Among its related pathways are Defensins and Innate Immune System. An important paralog of this gene is DEFA4.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for DEFA6 Gene

Genomics for DEFA6 Gene

GeneHancer (GH) Regulatory Elements for DEFA6 Gene

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
GH08I006926 Promoter 0.5 EPDnew 550.8 0.0 -20 0.1 DEFA6 ENSG00000254625
GH08I006863 Enhancer 1.2 FANTOM5 Ensembl ENCODE 11.1 +59.7 59691 6.1 MXI1 JUN MAX CEBPB EP300 ZIC2 NR2F2 RFX5 JUND STAT3 DEFB1 DEFA4 DEFA6 DEFA5 GS1-24F4.2 PIR50120 GC08P006842
GH08I006958 Enhancer 0.8 ENCODE dbSUPER 12.7 -32.2 -32188 0.1 CTCF ZNF654 USF1 KLF17 MAX TRIM22 SIN3A USF2 ZNF2 GLIS2 DEFA9P ENSG00000254625 DEFA6 DEFA8P
GH08I006900 Enhancer 0.8 ENCODE 12.4 +24.7 24715 1.1 SOX13 TFAP4 FOXA2 SAP130 CEBPG ZNF644 ZSCAN9 RARA TEAD3 SCRT2 RPL23AP96 DEFB1 DEFA6 DEFA4
GH08I006856 Enhancer 0.7 ENCODE 11.4 +69.8 69782 0.2 JUN MAX CEBPG BRCA1 RFX5 RCOR1 NFE2 TCF7L2 ZNF189 CEBPB GS1-24F4.2 DEFB1 DEFA4 DEFA6 PIR50120 GC08P006842
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DEFA6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DEFA6 gene promoter:

Genomic Locations for DEFA6 Gene

Genomic Locations for DEFA6 Gene
chr8:6,924,693-6,926,076
(GRCh38/hg38)
Size:
1,384 bases
Orientation:
Minus strand
chr8:6,782,215-6,783,598
(GRCh37/hg19)

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

No Post-translational modifications

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

Suggested Antigen Peptide Sequences for DEFA6 Gene

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

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
UniProtKB/Swiss-Prot Function:
Has very low antimicrobial activity against Gram-negative and Gram-positive bacteria. May protect cells against infection with HIV-1.

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

Phenotypes for DEFA6 Gene

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

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , 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

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 IEA --
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

Pathways by source for DEFA6 Gene

Gene Ontology (GO) - Biological Process for DEFA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006952 defense response IEA --
GO:0019730 antimicrobial humoral response TAS --
GO:0031640 killing of cells of other organism IEA --
GO:0042742 defense response to bacterium IEA --
GO:0050832 defense response to fungus 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 :
(7) Additional mRNA sequences :
(10) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DEFA6 Gene

Defensin, alpha 6, Paneth cell-specific:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

No ASD Table

Relevant External Links for DEFA6 Gene

GeneLoc Exon Structure for
DEFA6
ECgene alternative splicing isoforms for
DEFA6

Expression for DEFA6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for DEFA6 Gene



Protein tissue co-expression partners for DEFA6 Gene

NURSA nuclear receptor signaling pathways regulating expression of DEFA6 Gene:

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(4.7)
  • Nervous system(4)
genes like me logo Genes that share expression patterns with DEFA6: view

Primer Products

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)

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:

Pseudogenes.org Pseudogenes for DEFA6 Gene

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

Variants for DEFA6 Gene

Sequence variations from dbSNP and Humsavar for DEFA6 Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs1000247929 -- 6,927,359(-) T/C upstream_transcript_variant
rs1000575592 -- 6,926,391(-) A/G upstream_transcript_variant
rs1000637597 -- 6,927,169(-) C/T upstream_transcript_variant
rs1001011601 -- 6,924,423(-) C/T downstream_transcript_variant
rs1001070468 -- 6,924,614(-) C/G downstream_transcript_variant

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

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

Disorders for DEFA6 Gene

Additional Disease Information for DEFA6

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for DEFA6 Gene.

No data available for MalaCards , 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 22 58
  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 22 58
  3. Human enteric defensins. Gene structure and developmental expression. (PMID: 8626737) Mallow EB … Bevins CL (The Journal of biological chemistry 1996) 3 4 22 58
  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 44 58
  5. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PMID: 20438785) Han S … Kang D (Human immunology 2010) 3 44 58

Products for DEFA6 Gene

Sources for DEFA6 Gene

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