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Aliases for DEFA6 Gene

Aliases for DEFA6 Gene

  • 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, Paneth Cell-Specific) 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 G-protein signaling_Regulation of CDC42 activity. 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

Regulatory Elements for DEFA6 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for DEFA6 Gene at MOPED

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

Protein Domains for DEFA6 Gene

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.

Gene Ontology (GO) - Molecular Function for DEFA6 Gene

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

Phenotypes for DEFA6 Gene

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

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DEFA6

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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

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

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 --
GO:0019731 antibacterial humoral response IDA 15616305
GO:0031640 killing of cells of other organism IEA --
GO:0045087 innate immune response TAS --
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
HBD2
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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DEFA6

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

mRNA expression in normal human tissues 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

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay 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 MAF
rs712276 -- 6,924,749(-) TGTCC(C/T)ATACA utr-variant-3-prime
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

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: 44.83% 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)

Relevant External Links for DEFA6 Gene

HapMap Linkage Disequilibrium report
DEFA6

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

Disorders for DEFA6 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
acute inflammation of lacrimal passage
  • acute and unspecified inflammation of lacrimal passages
dacryocystitis
- elite association
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 23 67
  2. Interactions of alpha-, beta-, and theta-defensins with influenza A virus and surfactant protein D. (PMID: 19494312) Doss M. … Hartshorn K.L. (J. Immunol. 2009) 23 67
  3. Influence of standard treatment on ileal and colonic antimicrobial defensin expression in active Crohn's disease. (PMID: 19549264) KA1bler I. … Wehkamp J. (Aliment. Pharmacol. Ther. 2009) 23 67
  4. Activation of NOD2-mediated intestinal pathway in a pediatric population with Crohn's disease. (PMID: 19266573) Negroni A. … Cucchiara S. (Inflamm. Bowel Dis. 2009) 23 67
  5. Differential effects of Staphylococcal enterotoxin B-mediated immune activation on intestinal defensins. (PMID: 19386083) Dhaliwal W. … Bajaj-Elliott M. (Clin. Exp. Immunol. 2009) 23 67

Products for DEFA6 Gene

Sources for DEFA6 Gene

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