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DEFB103A (defensin beta 103A)

Identity

Alias_namesDEFB3
DEFB103
defensin, beta 3
defensin, beta 103A
Alias_symbol (synonym)HBD-3
HBP-3
HBD3
HBP3
DEFB-3
Other aliasBD-3
hBD-3
HGNC (Hugo) DEFB103A
LocusID (NCBI) 414325
Atlas_Id 52193
Location 8p23.1  [Link to chromosome band 8p23]
Location_base_pair Starts at 7428894 and ends at 7430348 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

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)DEFB103A   15967
Cards
Entrez_Gene (NCBI)DEFB103A  414325  defensin beta 103A
AliasesBD-3; DEFB-3; DEFB103; DEFB3; 
HBD3; HBP-3; HBP3; hBD-3
GeneCards (Weizmann)DEFB103A
Ensembl hg19 (Hinxton)ENSG00000176797 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000176797 [Gene_View]  chr8:7428894-7430348 [Contig_View]  DEFB103A [Vega]
ICGC DataPortalENSG00000176797
TCGA cBioPortalDEFB103A
AceView (NCBI)DEFB103A
Genatlas (Paris)DEFB103A
WikiGenes414325
SOURCE (Princeton)DEFB103A
Genetics Home Reference (NIH)DEFB103A
Genomic and cartography
GoldenPath hg38 (UCSC)DEFB103A  -     chr8:7428894-7430348 -  8p23.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DEFB103A  -     8p23.1   [Description]    (hg19-Feb_2009)
EnsemblDEFB103A - 8p23.1 [CytoView hg19]  DEFB103A - 8p23.1 [CytoView hg38]
Mapping of homologs : NCBIDEFB103A [Mapview hg19]  DEFB103A [Mapview hg38]
Gene and transcription
Genbank (Entrez)AB037972 AF217245 AF295370 AF301470 AF516673
RefSeq transcript (Entrez)NM_001081551
RefSeq genomic (Entrez)NC_000008 NC_018919 NT_187570
Consensus coding sequences : CCDS (NCBI)DEFB103A
Cluster EST : UnigeneHs.637221 [ NCBI ]
CGAP (NCI)Hs.637221
Alternative Splicing GalleryENSG00000176797
Gene ExpressionDEFB103A [ NCBI-GEO ]   DEFB103A [ EBI - ARRAY_EXPRESS ]   DEFB103A [ SEEK ]   DEFB103A [ MEM ]
Gene Expression Viewer (FireBrowse)DEFB103A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)414325
GTEX Portal (Tissue expression)DEFB103A
Human Protein AtlasENSG00000176797-DEFB103A [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP81534   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP81534  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP81534
Splice isoforms : SwissVarP81534
PhosPhoSitePlusP81534
Domains : Interpro (EBI)Defensin_beta-typ   
Domain families : Pfam (Sanger)Defensin_beta (PF00711)   
Domain families : Pfam (NCBI)pfam00711   
Conserved Domain (NCBI)DEFB103A
DMDM Disease mutations414325
Blocks (Seattle)DEFB103A
PDB (SRS)1KJ6   
PDB (PDBSum)1KJ6   
PDB (IMB)1KJ6   
PDB (RSDB)1KJ6   
Structural Biology KnowledgeBase1KJ6   
SCOP (Structural Classification of Proteins)1KJ6   
CATH (Classification of proteins structures)1KJ6   
SuperfamilyP81534
Human Protein Atlas [tissue]ENSG00000176797-DEFB103A [tissue]
Peptide AtlasP81534
Protein Interaction databases
DIP (DOE-UCLA)P81534
IntAct (EBI)P81534
FunCoupENSG00000176797
BioGRIDDEFB103A
STRING (EMBL)DEFB103A
ZODIACDEFB103A
Ontologies - Pathways
QuickGOP81534
Ontology : AmiGOextracellular region  extracellular space  Golgi lumen  antimicrobial humoral response  defense response to bacterium  
Ontology : EGO-EBIextracellular region  extracellular space  Golgi lumen  antimicrobial humoral response  defense response to bacterium  
NDEx NetworkDEFB103A
Atlas of Cancer Signalling NetworkDEFB103A
Wikipedia pathwaysDEFB103A
Orthology - Evolution
OrthoDB414325
GeneTree (enSembl)ENSG00000176797
Phylogenetic Trees/Animal Genes : TreeFamDEFB103A
HOVERGENP81534
HOGENOMP81534
Homologs : HomoloGeneDEFB103A
Homology/Alignments : Family Browser (UCSC)DEFB103A
Gene fusions - Rearrangements
Tumor Fusion PortalDEFB103A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDEFB103A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DEFB103A
dbVarDEFB103A
ClinVarDEFB103A
1000_GenomesDEFB103A 
Exome Variant ServerDEFB103A
ExAC (Exome Aggregation Consortium)ENSG00000176797
GNOMAD BrowserENSG00000176797
Genetic variants : HAPMAP414325
Genomic Variants (DGV)DEFB103A [DGVbeta]
DECIPHERDEFB103A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDEFB103A 
Mutations
ICGC Data PortalDEFB103A 
TCGA Data PortalDEFB103A 
Broad Tumor PortalDEFB103A
OASIS PortalDEFB103A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDEFB103A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDEFB103A
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch DEFB103A
DgiDB (Drug Gene Interaction Database)DEFB103A
DoCM (Curated mutations)DEFB103A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DEFB103A (select a term)
intoGenDEFB103A
Cancer3DDEFB103A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETDEFB103A
MedgenDEFB103A
Genetic Testing Registry DEFB103A
NextProtP81534 [Medical]
TSGene414325
GENETestsDEFB103A
Target ValidationDEFB103A
Huge Navigator DEFB103A [HugePedia]
snp3D : Map Gene to Disease414325
BioCentury BCIQDEFB103A
ClinGenDEFB103A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD414325
Chemical/Pharm GKB GenePA27244
Clinical trialDEFB103A
Miscellaneous
canSAR (ICR)DEFB103A (select the gene name)
Probes
Litterature
PubMed23 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDEFB103A
EVEXDEFB103A
GoPubMedDEFB103A
iHOPDEFB103A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:10:20 CET 2017

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