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DEFA1B (defensin alpha 1B)

Identity

Alias_namesdefensin, alpha 1B
Other aliasHNP-1
HP-1
HP1
HGNC (Hugo) DEFA1B
LocusID (NCBI) 728358
Atlas_Id 62382
Location 8p23.1  [Link to chromosome band 8p23]
Location_base_pair Starts at 6977649 and ends at 6980092 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)DEFA1B   33596
Cards
Entrez_Gene (NCBI)DEFA1B  728358  defensin alpha 1B
AliasesHNP-1; HP-1; HP1
GeneCards (Weizmann)DEFA1B
Ensembl hg19 (Hinxton)ENSG00000240247 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000240247 [Gene_View]  chr8:6977649-6980092 [Contig_View]  DEFA1B [Vega]
ICGC DataPortalENSG00000240247
TCGA cBioPortalDEFA1B
AceView (NCBI)DEFA1B
Genatlas (Paris)DEFA1B
WikiGenes728358
SOURCE (Princeton)DEFA1B
Genetics Home Reference (NIH)DEFA1B
Genomic and cartography
GoldenPath hg38 (UCSC)DEFA1B  -     chr8:6977649-6980092 -  8p23.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DEFA1B  -     8p23.1   [Description]    (hg19-Feb_2009)
EnsemblDEFA1B - 8p23.1 [CytoView hg19]  DEFA1B - 8p23.1 [CytoView hg38]
Mapping of homologs : NCBIDEFA1B [Mapview hg19]  DEFA1B [Mapview hg38]
Gene and transcription
Genbank (Entrez)HY073456 HY252327
RefSeq transcript (Entrez)NM_001042500 NM_001302265
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DEFA1B
Cluster EST : UnigeneHs.380781 [ NCBI ]
CGAP (NCI)Hs.380781
Alternative Splicing GalleryENSG00000240247
Gene ExpressionDEFA1B [ NCBI-GEO ]   DEFA1B [ EBI - ARRAY_EXPRESS ]   DEFA1B [ SEEK ]   DEFA1B [ MEM ]
Gene Expression Viewer (FireBrowse)DEFA1B [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)728358
GTEX Portal (Tissue expression)DEFA1B
Protein : pattern, domain, 3D structure
UniProt/SwissProtP59665   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP59665  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP59665
Splice isoforms : SwissVarP59665
PhosPhoSitePlusP59665
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)DEFA1B
DMDM Disease mutations728358
Blocks (Seattle)DEFA1B
PDB (SRS)2KHT    2PM1    3GNY    3H6C    3HJ2    3HJD    3LO1    3LO2    3LO4    3LO6    3LO9    3LOE    3LVX    4DU0    4LB1    4LB7    4LBB    4LBF   
PDB (PDBSum)2KHT    2PM1    3GNY    3H6C    3HJ2    3HJD    3LO1    3LO2    3LO4    3LO6    3LO9    3LOE    3LVX    4DU0    4LB1    4LB7    4LBB    4LBF   
PDB (IMB)2KHT    2PM1    3GNY    3H6C    3HJ2    3HJD    3LO1    3LO2    3LO4    3LO6    3LO9    3LOE    3LVX    4DU0    4LB1    4LB7    4LBB    4LBF   
PDB (RSDB)2KHT    2PM1    3GNY    3H6C    3HJ2    3HJD    3LO1    3LO2    3LO4    3LO6    3LO9    3LOE    3LVX    4DU0    4LB1    4LB7    4LBB    4LBF   
Structural Biology KnowledgeBase2KHT    2PM1    3GNY    3H6C    3HJ2    3HJD    3LO1    3LO2    3LO4    3LO6    3LO9    3LOE    3LVX    4DU0    4LB1    4LB7    4LBB    4LBF   
SCOP (Structural Classification of Proteins)2KHT    2PM1    3GNY    3H6C    3HJ2    3HJD    3LO1    3LO2    3LO4    3LO6    3LO9    3LOE    3LVX    4DU0    4LB1    4LB7    4LBB    4LBF   
CATH (Classification of proteins structures)2KHT    2PM1    3GNY    3H6C    3HJ2    3HJD    3LO1    3LO2    3LO4    3LO6    3LO9    3LOE    3LVX    4DU0    4LB1    4LB7    4LBB    4LBF   
SuperfamilyP59665
Human Protein AtlasENSG00000240247
Peptide AtlasP59665
Protein Interaction databases
DIP (DOE-UCLA)P59665
IntAct (EBI)P59665
FunCoupENSG00000240247
BioGRIDDEFA1B
STRING (EMBL)DEFA1B
ZODIACDEFA1B
Ontologies - Pathways
QuickGOP59665
Ontology : AmiGOinnate immune response in mucosa  extracellular region  extracellular space  Golgi lumen  chemotaxis  immune response  antimicrobial humoral response  antibacterial humoral response  intracellular estrogen receptor signaling pathway  extracellular matrix  killing of cells of other organism  azurophil granule lumen  neutrophil degranulation  defense response to Gram-positive bacterium  defense response to fungus  defense response to virus  antimicrobial humoral immune response mediated by antimicrobial peptide  extracellular exosome  
Ontology : EGO-EBIinnate immune response in mucosa  extracellular region  extracellular space  Golgi lumen  chemotaxis  immune response  antimicrobial humoral response  antibacterial humoral response  intracellular estrogen receptor signaling pathway  extracellular matrix  killing of cells of other organism  azurophil granule lumen  neutrophil degranulation  defense response to Gram-positive bacterium  defense response to fungus  defense response to virus  antimicrobial humoral immune response mediated by antimicrobial peptide  extracellular exosome  
NDEx NetworkDEFA1B
Atlas of Cancer Signalling NetworkDEFA1B
Wikipedia pathwaysDEFA1B
Orthology - Evolution
OrthoDB728358
GeneTree (enSembl)ENSG00000240247
Phylogenetic Trees/Animal Genes : TreeFamDEFA1B
HOVERGENP59665
HOGENOMP59665
Homologs : HomoloGeneDEFA1B
Homology/Alignments : Family Browser (UCSC)DEFA1B
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDEFA1B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DEFA1B
dbVarDEFA1B
ClinVarDEFA1B
1000_GenomesDEFA1B 
Exome Variant ServerDEFA1B
ExAC (Exome Aggregation Consortium)DEFA1B (select the gene name)
Genetic variants : HAPMAP728358
Genomic Variants (DGV)DEFA1B [DGVbeta]
DECIPHERDEFA1B [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDEFA1B 
Mutations
ICGC Data PortalDEFA1B 
TCGA Data PortalDEFA1B 
Broad Tumor PortalDEFA1B
OASIS PortalDEFA1B [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDDEFA1B
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch DEFA1B
DgiDB (Drug Gene Interaction Database)DEFA1B
DoCM (Curated mutations)DEFA1B (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DEFA1B (select a term)
intoGenDEFA1B
Cancer3DDEFA1B(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenDEFA1B
Genetic Testing Registry DEFA1B
NextProtP59665 [Medical]
TSGene728358
GENETestsDEFA1B
Target ValidationDEFA1B
Huge Navigator DEFA1B [HugePedia]
snp3D : Map Gene to Disease728358
BioCentury BCIQDEFA1B
ClinGenDEFA1B
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD728358
Chemical/Pharm GKB GenePA165585475
Clinical trialDEFA1B
Miscellaneous
canSAR (ICR)DEFA1B (select the gene name)
Probes
Litterature
PubMed30 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDEFA1B
EVEXDEFA1B
GoPubMedDEFA1B
iHOPDEFA1B
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:06:01 CEST 2017

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