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DEFA6 Gene(Protein Coding)

Defensin Alpha 6

GCID:
GC08M006924
GIFtS:
53
Genes Participants
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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. Diseases associated with DEFA6 include Acute Inflammation Of Lacrimal Passage and Dacryocystitis. Among its related pathways are Immune System and Defensins. An important paralog of this gene is DEFA3.

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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DEFA6 Gene

Genomics for DEFA6 Gene

Products:

  1. Regulatory Element

Regulatory Elements for DEFA6 Gene

Enhancers for DEFA6 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 DEFA6 on UCSC Golden Path with GeneCards custom track

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

Genomic Location for DEFA6 Gene

Chromosome:
8
Start:
6,924,693 bp from pter
End:
6,926,076 bp from pter
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 Structure • Gene Density

RefSeq DNA sequence for DEFA6 Gene

Proteins for DEFA6 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Proteomics data for DEFA6 Gene at MOPED

Protein Expression for DEFA6 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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:

Protein Domains for DEFA6 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for DEFA6 Gene

GenScript: Design optimal peptide antigens:

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

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  6. Cell Line
  7. Flow Cytometry

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 for DEFA6 Gene

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

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for DEFA6 Gene COMPARTMENTS Subcellular localization image for DEFA6 gene
Compartment Confidence
extracellular 5
golgi apparatus 4

No data available for Gene Ontology (GO) - Cellular Components for DEFA6 Gene

Pathways & Interactions for DEFA6 Gene

SuperPathways for DEFA6 Gene

PathCards logoMore details on SuperPathways for DEFA6
Superpath Contained pathways
1 Defensins
Defensins
.82
Alpha-defensins
1
2 Immune System
Immune System
.52
Innate Immune System
.52
genes like me logo Genes that share pathways with DEFA6: view

Pathways by source for DEFA6 Gene

4 Reactome pathways for DEFA6 Gene

Gene Ontology (GO) - Biological Process for DEFA6 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 DEFA6: view

No data available for SIGNOR curated interactions for DEFA6 Gene

Drugs & Compounds for DEFA6 Gene

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  1. Drug

(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

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
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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:

Inhibitory RNA Products

Flow Cytometry 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

Products:

  1. Primer

mRNA expression in normal human tissues for DEFA6 Gene

mRNA expression in normal human tissues for DEFA6 Gene
mRNA expression by BioGPS for DEFA6 GenemRNA expression by GTEx 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



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.
genes like me logo Genes that share expression patterns with DEFA6: view

Protein tissue co-expression partners for DEFA6 Gene

Primer Products

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 Sequence Context AA Info Type
rs2702937 -- 6,927,591(+) tcctt(C/T)acctc upstream-variant-2KB
rs2738118 -- 6,927,449(-) TATAC(A/C)GATTC upstream-variant-2KB
rs2738119 -- 6,925,195(-) CGTTG(C/G)AAACT intron-variant
rs2738120 -- 6,925,114(-) AATGG(C/G)TCTCT intron-variant
rs2741688 -- 6,927,830(-) CAGCT(A/G)TAAGT upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv465436 CNV Gain 19166990
esv2752262 CNV Gain 17911159
nsv465437 CNV Gain 19166990
dgv7656n71 CNV Gain 21882294
nsv890064 CNV Gain 21882294
dgv7657n71 CNV Gain 21882294
nsv428194 CNV Gain+Loss 18775914
nsv528374 CNV Gain 19592680
dgv2190e1 CNV Complex 17122850
essv14510 CNV CNV 17122850
dgv2191e1 CNV Complex 17122850
nsv890066 CNV Gain 21882294
nsv831221 CNV Gain 17160897
nsv509248 CNV Insertion 20534489

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for DEFA6 Gene

Disorders for DEFA6 Gene

MalaCards: The human disease database

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

- elite association - COSMIC cancer census association via MalaCards
Search DEFA6 in MalaCards View complete list of genes associated with diseases

Relevant External Links for DEFA6

Genetic Association Database (GAD)
DEFA6
Human Genome Epidemiology (HuGE) Navigator
DEFA6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DEFA6
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 D.E. … Bevins C.L. (FEBS Lett. 1993) 2 3 4 23 67
  2. Crystal structures of human alpha-defensins HNP4, HD5, and HD6. (PMID: 17088326) Szyk A. … Lubkowski J. (Protein Sci. 2006) 3 23
  3. Human enteric defensins. Gene structure and developmental expression. (PMID: 8626737) Mallow E.B. … Bevins C.L. (J. Biol. Chem. 1996) 3 23
  4. Paneth cell I+-defensin 6 (HD-6) is an antimicrobial peptide. (PMID: 25354318) Schroeder B.O. … Wehkamp J. (Mucosal Immunol 2015) 3
  5. Regulation of human enteric I+-defensins by NOD2 in the Paneth cell lineage. (PMID: 25433720) Tan G. … Zhi F.C. (Eur. J. Cell Biol. 2015) 3

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