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DEFA6 (defensin alpha 6)

Identity

Alias_namesdefensin
Alias_symbol (synonym)HD-6
DEF6
Other alias
HGNC (Hugo) DEFA6
LocusID (NCBI) 1671
Atlas_Id 43817
Location 8p23.1  [Link to chromosome band 8p23]
Location_base_pair Starts at 6924694 and ends at 6926076 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
C7 (5p13.1) / DEFA6 (8p23.1)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)DEFA6   2765
Cards
Entrez_Gene (NCBI)DEFA6  1671  defensin alpha 6
AliasesDEF6; HD-6
GeneCards (Weizmann)DEFA6
Ensembl hg19 (Hinxton)ENSG00000164822 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000164822 [Gene_View]  chr8:6924694-6926076 [Contig_View]  DEFA6 [Vega]
ICGC DataPortalENSG00000164822
TCGA cBioPortalDEFA6
AceView (NCBI)DEFA6
Genatlas (Paris)DEFA6
WikiGenes1671
SOURCE (Princeton)DEFA6
Genetics Home Reference (NIH)DEFA6
Genomic and cartography
GoldenPath hg38 (UCSC)DEFA6  -     chr8:6924694-6926076 -  8p23.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DEFA6  -     8p23.1   [Description]    (hg19-Feb_2009)
EnsemblDEFA6 - 8p23.1 [CytoView hg19]  DEFA6 - 8p23.1 [CytoView hg38]
Mapping of homologs : NCBIDEFA6 [Mapview hg19]  DEFA6 [Mapview hg38]
OMIM600471   
Gene and transcription
Genbank (Entrez)BC069667 BC069710 BC069728 BC069769 BC093951
RefSeq transcript (Entrez)NM_001926
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DEFA6
Cluster EST : UnigeneHs.711 [ NCBI ]
CGAP (NCI)Hs.711
Alternative Splicing GalleryENSG00000164822
Gene ExpressionDEFA6 [ NCBI-GEO ]   DEFA6 [ EBI - ARRAY_EXPRESS ]   DEFA6 [ SEEK ]   DEFA6 [ MEM ]
Gene Expression Viewer (FireBrowse)DEFA6 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1671
GTEX Portal (Tissue expression)DEFA6
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ01524   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ01524  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ01524
Splice isoforms : SwissVarQ01524
PhosPhoSitePlusQ01524
Domaine pattern : Prosite (Expaxy)DEFENSIN (PS00269)   
Domains : Interpro (EBI)Alpha-defensin    Alpha-defensin_pro    Defensin_beta/alpha    Defensin_propep   
Domain families : Pfam (Sanger)Defensin_1 (PF00323)    Defensin_propep (PF00879)   
Domain families : Pfam (NCBI)pfam00323    pfam00879   
Domain families : Smart (EMBL)DEFSN (SM00048)  
Conserved Domain (NCBI)DEFA6
DMDM Disease mutations1671
Blocks (Seattle)DEFA6
PDB (SRS)1ZMQ    3QTE   
PDB (PDBSum)1ZMQ    3QTE   
PDB (IMB)1ZMQ    3QTE   
PDB (RSDB)1ZMQ    3QTE   
Structural Biology KnowledgeBase1ZMQ    3QTE   
SCOP (Structural Classification of Proteins)1ZMQ    3QTE   
CATH (Classification of proteins structures)1ZMQ    3QTE   
SuperfamilyQ01524
Human Protein AtlasENSG00000164822
Peptide AtlasQ01524
HPRD02719
IPIIPI00008301   
Protein Interaction databases
DIP (DOE-UCLA)Q01524
IntAct (EBI)Q01524
FunCoupENSG00000164822
BioGRIDDEFA6
STRING (EMBL)DEFA6
ZODIACDEFA6
Ontologies - Pathways
QuickGOQ01524
Ontology : AmiGOprotein binding  extracellular region  extracellular space  Golgi lumen  antimicrobial humoral response  killing of cells of other organism  defense response to bacterium  defense response to fungus  
Ontology : EGO-EBIprotein binding  extracellular region  extracellular space  Golgi lumen  antimicrobial humoral response  killing of cells of other organism  defense response to bacterium  defense response to fungus  
NDEx NetworkDEFA6
Atlas of Cancer Signalling NetworkDEFA6
Wikipedia pathwaysDEFA6
Orthology - Evolution
OrthoDB1671
GeneTree (enSembl)ENSG00000164822
Phylogenetic Trees/Animal Genes : TreeFamDEFA6
HOVERGENQ01524
HOGENOMQ01524
Homologs : HomoloGeneDEFA6
Homology/Alignments : Family Browser (UCSC)DEFA6
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDEFA6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DEFA6
dbVarDEFA6
ClinVarDEFA6
1000_GenomesDEFA6 
Exome Variant ServerDEFA6
ExAC (Exome Aggregation Consortium)DEFA6 (select the gene name)
Genetic variants : HAPMAP1671
Genomic Variants (DGV)DEFA6 [DGVbeta]
DECIPHERDEFA6 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDEFA6 
Mutations
ICGC Data PortalDEFA6 
TCGA Data PortalDEFA6 
Broad Tumor PortalDEFA6
OASIS PortalDEFA6 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDEFA6  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDEFA6
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch DEFA6
DgiDB (Drug Gene Interaction Database)DEFA6
DoCM (Curated mutations)DEFA6 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DEFA6 (select a term)
intoGenDEFA6
Cancer3DDEFA6(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600471   
Orphanet
MedgenDEFA6
Genetic Testing Registry DEFA6
NextProtQ01524 [Medical]
TSGene1671
GENETestsDEFA6
Target ValidationDEFA6
Huge Navigator DEFA6 [HugePedia]
snp3D : Map Gene to Disease1671
BioCentury BCIQDEFA6
ClinGenDEFA6
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1671
Chemical/Pharm GKB GenePA27242
Clinical trialDEFA6
Miscellaneous
canSAR (ICR)DEFA6 (select the gene name)
Probes
Litterature
PubMed31 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDEFA6
EVEXDEFA6
GoPubMedDEFA6
iHOPDEFA6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 16:59:24 CEST 2017

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