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DEFB4A (defensin beta 4A)

Identity

Alias_namesDEFB102
DEFB2
DEFB4
defensin, beta 2
defensin, beta 4
defensin, beta 4A
Alias_symbol (synonym)SAP1
HBD-2
DEFB-2
Other aliasBD-2
HGNC (Hugo) DEFB4A
LocusID (NCBI) 1673
Atlas_Id 51501
Location 8p23.1  [Link to chromosome band 8p23]
Location_base_pair Starts at 7894565 and ends at 7896716 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)DEFB4A   2767
Cards
Entrez_Gene (NCBI)DEFB4A  1673  defensin beta 4A
AliasesBD-2; DEFB-2; DEFB102; DEFB2; 
DEFB4; HBD-2; SAP1
GeneCards (Weizmann)DEFB4A
Ensembl hg19 (Hinxton)ENSG00000171711 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000171711 [Gene_View]  chr8:7894565-7896716 [Contig_View]  DEFB4A [Vega]
ICGC DataPortalENSG00000171711
TCGA cBioPortalDEFB4A
AceView (NCBI)DEFB4A
Genatlas (Paris)DEFB4A
WikiGenes1673
SOURCE (Princeton)DEFB4A
Genetics Home Reference (NIH)DEFB4A
Genomic and cartography
GoldenPath hg38 (UCSC)DEFB4A  -     chr8:7894565-7896716 +  8p23.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DEFB4A  -     8p23.1   [Description]    (hg19-Feb_2009)
EnsemblDEFB4A - 8p23.1 [CytoView hg19]  DEFB4A - 8p23.1 [CytoView hg38]
Mapping of homologs : NCBIDEFB4A [Mapview hg19]  DEFB4A [Mapview hg38]
OMIM602215   
Gene and transcription
Genbank (Entrez)BC069285 BC093983 BC093985 BM855542 HY264007
RefSeq transcript (Entrez)NM_004942
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DEFB4A
Cluster EST : UnigeneHs.105924 [ NCBI ]
CGAP (NCI)Hs.105924
Alternative Splicing GalleryENSG00000171711
Gene ExpressionDEFB4A [ NCBI-GEO ]   DEFB4A [ EBI - ARRAY_EXPRESS ]   DEFB4A [ SEEK ]   DEFB4A [ MEM ]
Gene Expression Viewer (FireBrowse)DEFB4A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1673
GTEX Portal (Tissue expression)DEFB4A
Protein : pattern, domain, 3D structure
UniProt/SwissProtO15263   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO15263  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO15263
Splice isoforms : SwissVarO15263
PhosPhoSitePlusO15263
Domains : Interpro (EBI)Defensin_beta-typ    Defensin_beta/alpha   
Domain families : Pfam (Sanger)Defensin_beta (PF00711)   
Domain families : Pfam (NCBI)pfam00711   
Domain families : Smart (EMBL)DEFSN (SM00048)  
Conserved Domain (NCBI)DEFB4A
DMDM Disease mutations1673
Blocks (Seattle)DEFB4A
PDB (SRS)1E4Q    1FD3    1FD4    1FQQ   
PDB (PDBSum)1E4Q    1FD3    1FD4    1FQQ   
PDB (IMB)1E4Q    1FD3    1FD4    1FQQ   
PDB (RSDB)1E4Q    1FD3    1FD4    1FQQ   
Structural Biology KnowledgeBase1E4Q    1FD3    1FD4    1FQQ   
SCOP (Structural Classification of Proteins)1E4Q    1FD3    1FD4    1FQQ   
CATH (Classification of proteins structures)1E4Q    1FD3    1FD4    1FQQ   
SuperfamilyO15263
Human Protein AtlasENSG00000171711
Peptide AtlasO15263
HPRD03739
Protein Interaction databases
DIP (DOE-UCLA)O15263
IntAct (EBI)O15263
FunCoupENSG00000171711
BioGRIDDEFB4A
STRING (EMBL)DEFB4A
ZODIACDEFB4A
Ontologies - Pathways
QuickGOO15263
Ontology : AmiGOprotein binding  extracellular region  extracellular space  Golgi lumen  chemotaxis  immune response  G-protein coupled receptor signaling pathway  antimicrobial humoral response  CCR6 chemokine receptor binding  defense response to bacterium  defense response to Gram-negative bacterium  defense response to Gram-positive bacterium  
Ontology : EGO-EBIprotein binding  extracellular region  extracellular space  Golgi lumen  chemotaxis  immune response  G-protein coupled receptor signaling pathway  antimicrobial humoral response  CCR6 chemokine receptor binding  defense response to bacterium  defense response to Gram-negative bacterium  defense response to Gram-positive bacterium  
NDEx NetworkDEFB4A
Atlas of Cancer Signalling NetworkDEFB4A
Wikipedia pathwaysDEFB4A
Orthology - Evolution
OrthoDB1673
GeneTree (enSembl)ENSG00000171711
Phylogenetic Trees/Animal Genes : TreeFamDEFB4A
HOVERGENO15263
HOGENOMO15263
Homologs : HomoloGeneDEFB4A
Homology/Alignments : Family Browser (UCSC)DEFB4A
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDEFB4A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DEFB4A
dbVarDEFB4A
ClinVarDEFB4A
1000_GenomesDEFB4A 
Exome Variant ServerDEFB4A
ExAC (Exome Aggregation Consortium)DEFB4A (select the gene name)
Genetic variants : HAPMAP1673
Genomic Variants (DGV)DEFB4A [DGVbeta]
DECIPHERDEFB4A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDEFB4A 
Mutations
ICGC Data PortalDEFB4A 
TCGA Data PortalDEFB4A 
Broad Tumor PortalDEFB4A
OASIS PortalDEFB4A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDEFB4A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDEFB4A
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch DEFB4A
DgiDB (Drug Gene Interaction Database)DEFB4A
DoCM (Curated mutations)DEFB4A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DEFB4A (select a term)
intoGenDEFB4A
Cancer3DDEFB4A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602215   
Orphanet
MedgenDEFB4A
Genetic Testing Registry DEFB4A
NextProtO15263 [Medical]
TSGene1673
GENETestsDEFB4A
Target ValidationDEFB4A
Huge Navigator DEFB4A [HugePedia]
snp3D : Map Gene to Disease1673
BioCentury BCIQDEFB4A
ClinGenDEFB4A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1673
Chemical/Pharm GKB GenePA27249
Clinical trialDEFB4A
Miscellaneous
canSAR (ICR)DEFB4A (select the gene name)
Probes
Litterature
PubMed239 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDEFB4A
EVEXDEFB4A
GoPubMedDEFB4A
iHOPDEFB4A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:30:58 CEST 2017

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