Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

DEFA5 (defensin alpha 5)

Identity

Alias_namesDEF5
defensin
Alias_symbol (synonym)HD-5
Other alias
HGNC (Hugo) DEFA5
LocusID (NCBI) 1670
Atlas_Id 54832
Location 8p23.1  [Link to chromosome band 8p23]
Location_base_pair Starts at 7055300 and ends at 7056739 bp from pter ( according to hg38-Dec_2013)

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)DEFA5   2764
Cards
Entrez_Gene (NCBI)DEFA5  1670  defensin alpha 5
AliasesDEF5; HD-5
GeneCards (Weizmann)DEFA5
Ensembl hg19 (Hinxton)ENSG00000164816 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000164816 [Gene_View]  chr8:7055300-7056739 [Contig_View]  DEFA5 [Vega]
ICGC DataPortalENSG00000164816
TCGA cBioPortalDEFA5
AceView (NCBI)DEFA5
Genatlas (Paris)DEFA5
WikiGenes1670
SOURCE (Princeton)DEFA5
Genetics Home Reference (NIH)DEFA5
Genomic and cartography
GoldenPath hg38 (UCSC)DEFA5  -     chr8:7055300-7056739 -  8p23.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DEFA5  -     8p23.1   [Description]    (hg19-Feb_2009)
EnsemblDEFA5 - 8p23.1 [CytoView hg19]  DEFA5 - 8p23.1 [CytoView hg38]
Mapping of homologs : NCBIDEFA5 [Mapview hg19]  DEFA5 [Mapview hg38]
OMIM600472   
Gene and transcription
Genbank (Entrez)BC069690 BC107079 BM854660 BP419449 HQ448430
RefSeq transcript (Entrez)NM_021010
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DEFA5
Cluster EST : UnigeneHs.655233 [ NCBI ]
CGAP (NCI)Hs.655233
Alternative Splicing GalleryENSG00000164816
Gene ExpressionDEFA5 [ NCBI-GEO ]   DEFA5 [ EBI - ARRAY_EXPRESS ]   DEFA5 [ SEEK ]   DEFA5 [ MEM ]
Gene Expression Viewer (FireBrowse)DEFA5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1670
GTEX Portal (Tissue expression)DEFA5
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ01523   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ01523  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ01523
Splice isoforms : SwissVarQ01523
PhosPhoSitePlusQ01523
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)DEFA5
DMDM Disease mutations1670
Blocks (Seattle)DEFA5
PDB (SRS)1ZMP    2LXZ    2MIT    3I5W    4E82    4E83    4E86    4RBW    4RBX    5CUI    5CUJ    5CUM   
PDB (PDBSum)1ZMP    2LXZ    2MIT    3I5W    4E82    4E83    4E86    4RBW    4RBX    5CUI    5CUJ    5CUM   
PDB (IMB)1ZMP    2LXZ    2MIT    3I5W    4E82    4E83    4E86    4RBW    4RBX    5CUI    5CUJ    5CUM   
PDB (RSDB)1ZMP    2LXZ    2MIT    3I5W    4E82    4E83    4E86    4RBW    4RBX    5CUI    5CUJ    5CUM   
Structural Biology KnowledgeBase1ZMP    2LXZ    2MIT    3I5W    4E82    4E83    4E86    4RBW    4RBX    5CUI    5CUJ    5CUM   
SCOP (Structural Classification of Proteins)1ZMP    2LXZ    2MIT    3I5W    4E82    4E83    4E86    4RBW    4RBX    5CUI    5CUJ    5CUM   
CATH (Classification of proteins structures)1ZMP    2LXZ    2MIT    3I5W    4E82    4E83    4E86    4RBW    4RBX    5CUI    5CUJ    5CUM   
SuperfamilyQ01523
Human Protein AtlasENSG00000164816
Peptide AtlasQ01523
HPRD02720
IPIIPI00008298   
Protein Interaction databases
DIP (DOE-UCLA)Q01523
IntAct (EBI)Q01523
FunCoupENSG00000164816
BioGRIDDEFA5
STRING (EMBL)DEFA5
ZODIACDEFA5
Ontologies - Pathways
QuickGOQ01523
Ontology : AmiGOextracellular region  extracellular space  Golgi lumen  antimicrobial humoral response  transport vesicle  killing of cells of other organism  secretory granule lumen  defense response to bacterium  defense response to fungus  antimicrobial humoral immune response mediated by antimicrobial peptide  
Ontology : EGO-EBIextracellular region  extracellular space  Golgi lumen  antimicrobial humoral response  transport vesicle  killing of cells of other organism  secretory granule lumen  defense response to bacterium  defense response to fungus  antimicrobial humoral immune response mediated by antimicrobial peptide  
NDEx NetworkDEFA5
Atlas of Cancer Signalling NetworkDEFA5
Wikipedia pathwaysDEFA5
Orthology - Evolution
OrthoDB1670
GeneTree (enSembl)ENSG00000164816
Phylogenetic Trees/Animal Genes : TreeFamDEFA5
HOVERGENQ01523
HOGENOMQ01523
Homologs : HomoloGeneDEFA5
Homology/Alignments : Family Browser (UCSC)DEFA5
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDEFA5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DEFA5
dbVarDEFA5
ClinVarDEFA5
1000_GenomesDEFA5 
Exome Variant ServerDEFA5
ExAC (Exome Aggregation Consortium)DEFA5 (select the gene name)
Genetic variants : HAPMAP1670
Genomic Variants (DGV)DEFA5 [DGVbeta]
DECIPHERDEFA5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDEFA5 
Mutations
ICGC Data PortalDEFA5 
TCGA Data PortalDEFA5 
Broad Tumor PortalDEFA5
OASIS PortalDEFA5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDEFA5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDEFA5
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 DEFA5
DgiDB (Drug Gene Interaction Database)DEFA5
DoCM (Curated mutations)DEFA5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DEFA5 (select a term)
intoGenDEFA5
Cancer3DDEFA5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600472   
Orphanet
MedgenDEFA5
Genetic Testing Registry DEFA5
NextProtQ01523 [Medical]
TSGene1670
GENETestsDEFA5
Target ValidationDEFA5
Huge Navigator DEFA5 [HugePedia]
snp3D : Map Gene to Disease1670
BioCentury BCIQDEFA5
ClinGenDEFA5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1670
Chemical/Pharm GKB GenePA27241
Clinical trialDEFA5
Miscellaneous
canSAR (ICR)DEFA5 (select the gene name)
Probes
Litterature
PubMed65 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDEFA5
EVEXDEFA5
GoPubMedDEFA5
iHOPDEFA5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 1 16:59:24 CEST 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.