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DEFA3 (defensin alpha 3)

Identity

Alias_namesDEF3
defensin
Alias_symbol (synonym)HNP-3
Other aliasHNP3
HP-3
HP3
HGNC (Hugo) DEFA3
LocusID (NCBI) 1668
Atlas_Id 43905
Location 8p23.1  [Link to chromosome band 8p23]
Location_base_pair Starts at 6873391 and ends at 6875816 bp from pter ( according to hg19-Feb_2009)

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)DEFA3   2762
Cards
Entrez_Gene (NCBI)DEFA3  1668  defensin alpha 3
AliasesDEF3; HNP-3; HNP3; HP-3; 
HP3
GeneCards (Weizmann)DEFA3
Ensembl hg19 (Hinxton)ENSG00000239839 [Gene_View]  chr8:6873391-6875816 [Contig_View]  DEFA3 [Vega]
Ensembl hg38 (Hinxton)ENSG00000239839 [Gene_View]  chr8:6873391-6875816 [Contig_View]  DEFA3 [Vega]
ICGC DataPortalENSG00000239839
TCGA cBioPortalDEFA3
AceView (NCBI)DEFA3
Genatlas (Paris)DEFA3
WikiGenes1668
SOURCE (Princeton)DEFA3
Genetics Home Reference (NIH)DEFA3
Genomic and cartography
GoldenPath hg19 (UCSC)DEFA3  -     chr8:6873391-6875816 -  8p23.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)DEFA3  -     8p23.1   [Description]    (hg38-Dec_2013)
EnsemblDEFA3 - 8p23.1 [CytoView hg19]  DEFA3 - 8p23.1 [CytoView hg38]
Mapping of homologs : NCBIDEFA3 [Mapview hg19]  DEFA3 [Mapview hg38]
OMIM604522   
Gene and transcription
Genbank (Entrez)BC027917 BC119706 EU176174 M21131 M23281
RefSeq transcript (Entrez)NM_005217
RefSeq genomic (Entrez)NC_000008 NC_018919 NT_023736 NW_004929335
Consensus coding sequences : CCDS (NCBI)DEFA3
Cluster EST : UnigeneHs.654448 [ NCBI ]
CGAP (NCI)Hs.654448
Alternative Splicing GalleryENSG00000239839
Gene ExpressionDEFA3 [ NCBI-GEO ]   DEFA3 [ EBI - ARRAY_EXPRESS ]   DEFA3 [ SEEK ]   DEFA3 [ MEM ]
Gene Expression Viewer (FireBrowse)DEFA3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1668
GTEX Portal (Tissue expression)DEFA3
Protein : pattern, domain, 3D structure
UniProt/SwissProtP59666   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP59666  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP59666
Splice isoforms : SwissVarP59666
PhosPhoSitePlusP59666
Domaine pattern : Prosite (Expaxy)DEFENSIN (PS00269)   
Domains : Interpro (EBI)Alpha-defensin    Defensin_beta/neutrophil    Defensin_propep    Mammalian_defensins   
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)DEFA3
DMDM Disease mutations1668
Blocks (Seattle)DEFA3
PDB (SRS)1DFN    1ZMH    1ZMI    1ZMK    2PM4    2PM5   
PDB (PDBSum)1DFN    1ZMH    1ZMI    1ZMK    2PM4    2PM5   
PDB (IMB)1DFN    1ZMH    1ZMI    1ZMK    2PM4    2PM5   
PDB (RSDB)1DFN    1ZMH    1ZMI    1ZMK    2PM4    2PM5   
Structural Biology KnowledgeBase1DFN    1ZMH    1ZMI    1ZMK    2PM4    2PM5   
SCOP (Structural Classification of Proteins)1DFN    1ZMH    1ZMI    1ZMK    2PM4    2PM5   
CATH (Classification of proteins structures)1DFN    1ZMH    1ZMI    1ZMK    2PM4    2PM5   
SuperfamilyP59666
Human Protein AtlasENSG00000239839
Peptide AtlasP59666
HPRD05159
IPIIPI00021827   
Protein Interaction databases
DIP (DOE-UCLA)P59666
IntAct (EBI)P59666
FunCoupENSG00000239839
BioGRIDDEFA3
STRING (EMBL)DEFA3
ZODIACDEFA3
Ontologies - Pathways
QuickGOP59666
Ontology : AmiGOinnate immune response in mucosa  molecular_function  extracellular region  extracellular space  Golgi lumen  antibacterial humoral response  intracellular estrogen receptor signaling pathway  killing of cells of other organism  azurophil granule lumen  innate immune response  innate immune response  defense response to Gram-positive bacterium  defense response to fungus  defense response to virus  extracellular exosome  
Ontology : EGO-EBIinnate immune response in mucosa  molecular_function  extracellular region  extracellular space  Golgi lumen  antibacterial humoral response  intracellular estrogen receptor signaling pathway  killing of cells of other organism  azurophil granule lumen  innate immune response  innate immune response  defense response to Gram-positive bacterium  defense response to fungus  defense response to virus  extracellular exosome  
Pathways : KEGGTranscriptional misregulation in cancer   
NDEx NetworkDEFA3
Atlas of Cancer Signalling NetworkDEFA3
Wikipedia pathwaysDEFA3
Orthology - Evolution
OrthoDB1668
GeneTree (enSembl)ENSG00000239839
Phylogenetic Trees/Animal Genes : TreeFamDEFA3
HOVERGENP59666
HOGENOMP59666
Homologs : HomoloGeneDEFA3
Homology/Alignments : Family Browser (UCSC)DEFA3
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDEFA3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DEFA3
dbVarDEFA3
ClinVarDEFA3
1000_GenomesDEFA3 
Exome Variant ServerDEFA3
ExAC (Exome Aggregation Consortium)DEFA3 (select the gene name)
Genetic variants : HAPMAP1668
Genomic Variants (DGV)DEFA3 [DGVbeta]
DECIPHER (Syndromes)8:6873391-6875816  ENSG00000239839
CONAN: Copy Number AnalysisDEFA3 
Mutations
ICGC Data PortalDEFA3 
TCGA Data PortalDEFA3 
Broad Tumor PortalDEFA3
OASIS PortalDEFA3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDEFA3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDEFA3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch DEFA3
DgiDB (Drug Gene Interaction Database)DEFA3
DoCM (Curated mutations)DEFA3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DEFA3 (select a term)
intoGenDEFA3
Cancer3DDEFA3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604522   
Orphanet
MedgenDEFA3
Genetic Testing Registry DEFA3
NextProtP59666 [Medical]
TSGene1668
GENETestsDEFA3
Huge Navigator DEFA3 [HugePedia]
snp3D : Map Gene to Disease1668
BioCentury BCIQDEFA3
ClinGenDEFA3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1668
Chemical/Pharm GKB GenePA27239
Clinical trialDEFA3
Miscellaneous
canSAR (ICR)DEFA3 (select the gene name)
Probes
Litterature
PubMed64 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDEFA3
EVEXDEFA3
GoPubMedDEFA3
iHOPDEFA3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 14:58:41 CEST 2017

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