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DEFA4 (defensin alpha 4)

Identity

Alias_namesDEF4
defensin
Alias_symbol (synonym)HP-4
Other aliasHNP-4
HP4
HGNC (Hugo) DEFA4
LocusID (NCBI) 1669
Atlas_Id 52075
Location 8p23.1  [Link to chromosome band 8p23]
Location_base_pair Starts at 6935820 and ends at 6938338 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)DEFA4   2763
Cards
Entrez_Gene (NCBI)DEFA4  1669  defensin alpha 4
AliasesDEF4; HNP-4; HP-4; HP4
GeneCards (Weizmann)DEFA4
Ensembl hg19 (Hinxton)ENSG00000164821 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000164821 [Gene_View]  chr8:6935820-6938338 [Contig_View]  DEFA4 [Vega]
ICGC DataPortalENSG00000164821
TCGA cBioPortalDEFA4
AceView (NCBI)DEFA4
Genatlas (Paris)DEFA4
WikiGenes1669
SOURCE (Princeton)DEFA4
Genetics Home Reference (NIH)DEFA4
Genomic and cartography
GoldenPath hg38 (UCSC)DEFA4  -     chr8:6935820-6938338 -  8p23.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DEFA4  -     8p23.1   [Description]    (hg19-Feb_2009)
EnsemblDEFA4 - 8p23.1 [CytoView hg19]  DEFA4 - 8p23.1 [CytoView hg38]
Mapping of homologs : NCBIDEFA4 [Mapview hg19]  DEFA4 [Mapview hg38]
OMIM601157   
Gene and transcription
Genbank (Entrez)BC093959 BC106747 BC112091 BU616655 DN998607
RefSeq transcript (Entrez)NM_001925
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DEFA4
Cluster EST : UnigeneHs.591391 [ NCBI ]
CGAP (NCI)Hs.591391
Alternative Splicing GalleryENSG00000164821
Gene ExpressionDEFA4 [ NCBI-GEO ]   DEFA4 [ EBI - ARRAY_EXPRESS ]   DEFA4 [ SEEK ]   DEFA4 [ MEM ]
Gene Expression Viewer (FireBrowse)DEFA4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1669
GTEX Portal (Tissue expression)DEFA4
Protein : pattern, domain, 3D structure
UniProt/SwissProtP12838   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP12838  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP12838
Splice isoforms : SwissVarP12838
PhosPhoSitePlusP12838
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)DEFA4
DMDM Disease mutations1669
Blocks (Seattle)DEFA4
PDB (SRS)1ZMM   
PDB (PDBSum)1ZMM   
PDB (IMB)1ZMM   
PDB (RSDB)1ZMM   
Structural Biology KnowledgeBase1ZMM   
SCOP (Structural Classification of Proteins)1ZMM   
CATH (Classification of proteins structures)1ZMM   
SuperfamilyP12838
Human Protein AtlasENSG00000164821
Peptide AtlasP12838
HPRD03099
IPIIPI00025866   
Protein Interaction databases
DIP (DOE-UCLA)P12838
IntAct (EBI)P12838
FunCoupENSG00000164821
BioGRIDDEFA4
STRING (EMBL)DEFA4
ZODIACDEFA4
Ontologies - Pathways
QuickGOP12838
Ontology : AmiGOextracellular region  extracellular space  Golgi lumen  antimicrobial humoral response  antimicrobial humoral response  antibacterial humoral response  antifungal humoral response  killing of cells of other organism  specific granule lumen  azurophil granule  neutrophil degranulation  innate immune response  defense response to Gram-negative bacterium  defense response to Gram-positive bacterium  defense response to fungus  antimicrobial humoral immune response mediated by antimicrobial peptide  
Ontology : EGO-EBIextracellular region  extracellular space  Golgi lumen  antimicrobial humoral response  antimicrobial humoral response  antibacterial humoral response  antifungal humoral response  killing of cells of other organism  specific granule lumen  azurophil granule  neutrophil degranulation  innate immune response  defense response to Gram-negative bacterium  defense response to Gram-positive bacterium  defense response to fungus  antimicrobial humoral immune response mediated by antimicrobial peptide  
NDEx NetworkDEFA4
Atlas of Cancer Signalling NetworkDEFA4
Wikipedia pathwaysDEFA4
Orthology - Evolution
OrthoDB1669
GeneTree (enSembl)ENSG00000164821
Phylogenetic Trees/Animal Genes : TreeFamDEFA4
HOVERGENP12838
HOGENOMP12838
Homologs : HomoloGeneDEFA4
Homology/Alignments : Family Browser (UCSC)DEFA4
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDEFA4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DEFA4
dbVarDEFA4
ClinVarDEFA4
1000_GenomesDEFA4 
Exome Variant ServerDEFA4
ExAC (Exome Aggregation Consortium)DEFA4 (select the gene name)
Genetic variants : HAPMAP1669
Genomic Variants (DGV)DEFA4 [DGVbeta]
DECIPHERDEFA4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDEFA4 
Mutations
ICGC Data PortalDEFA4 
TCGA Data PortalDEFA4 
Broad Tumor PortalDEFA4
OASIS PortalDEFA4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDEFA4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDEFA4
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 DEFA4
DgiDB (Drug Gene Interaction Database)DEFA4
DoCM (Curated mutations)DEFA4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DEFA4 (select a term)
intoGenDEFA4
Cancer3DDEFA4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601157   
Orphanet
MedgenDEFA4
Genetic Testing Registry DEFA4
NextProtP12838 [Medical]
TSGene1669
GENETestsDEFA4
Target ValidationDEFA4
Huge Navigator DEFA4 [HugePedia]
snp3D : Map Gene to Disease1669
BioCentury BCIQDEFA4
ClinGenDEFA4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1669
Chemical/Pharm GKB GenePA27240
Clinical trialDEFA4
Miscellaneous
canSAR (ICR)DEFA4 (select the gene name)
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDEFA4
EVEXDEFA4
GoPubMedDEFA4
iHOPDEFA4
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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