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DEFB114 (defensin beta 114)

Identity

Other aliasDEFB-14
DEFB14
HGNC (Hugo) DEFB114
LocusID (NCBI) 245928
Atlas_Id 56916
Location 6p12.3  [Link to chromosome band 6p12]
Location_base_pair Starts at 49960292 and ends at 49964105 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)DEFB114   18095
Cards
Entrez_Gene (NCBI)DEFB114  245928  defensin beta 114
AliasesDEFB-14; DEFB14
GeneCards (Weizmann)DEFB114
Ensembl hg19 (Hinxton)ENSG00000177684 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000177684 [Gene_View]  ENSG00000177684 [Sequence]  chr6:49960292-49964105 [Contig_View]  DEFB114 [Vega]
ICGC DataPortalENSG00000177684
TCGA cBioPortalDEFB114
AceView (NCBI)DEFB114
Genatlas (Paris)DEFB114
WikiGenes245928
SOURCE (Princeton)DEFB114
Genetics Home Reference (NIH)DEFB114
Genomic and cartography
GoldenPath hg38 (UCSC)DEFB114  -     chr6:49960292-49964105 -  6p12.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DEFB114  -     6p12.3   [Description]    (hg19-Feb_2009)
EnsemblDEFB114 - 6p12.3 [CytoView hg19]  DEFB114 - 6p12.3 [CytoView hg38]
Mapping of homologs : NCBIDEFB114 [Mapview hg19]  DEFB114 [Mapview hg38]
OMIM615243   
Gene and transcription
Genbank (Entrez)AY122470 DQ012018
RefSeq transcript (Entrez)NM_001037499
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DEFB114
Cluster EST : UnigeneHs.381372 [ NCBI ]
CGAP (NCI)Hs.381372
Alternative Splicing GalleryENSG00000177684
Gene ExpressionDEFB114 [ NCBI-GEO ]   DEFB114 [ EBI - ARRAY_EXPRESS ]   DEFB114 [ SEEK ]   DEFB114 [ MEM ]
Gene Expression Viewer (FireBrowse)DEFB114 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)245928
GTEX Portal (Tissue expression)DEFB114
Human Protein AtlasENSG00000177684-DEFB114 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ30KQ6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ30KQ6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ30KQ6
Splice isoforms : SwissVarQ30KQ6
PhosPhoSitePlusQ30KQ6
Domains : Interpro (EBI)Beta_defensin   
Domain families : Pfam (Sanger)Defensin_beta_2 (PF13841)   
Domain families : Pfam (NCBI)pfam13841   
Conserved Domain (NCBI)DEFB114
DMDM Disease mutations245928
Blocks (Seattle)DEFB114
SuperfamilyQ30KQ6
Human Protein Atlas [tissue]ENSG00000177684-DEFB114 [tissue]
Peptide AtlasQ30KQ6
IPIIPI00171623   
Protein Interaction databases
DIP (DOE-UCLA)Q30KQ6
IntAct (EBI)Q30KQ6
FunCoupENSG00000177684
BioGRIDDEFB114
STRING (EMBL)DEFB114
ZODIACDEFB114
Ontologies - Pathways
QuickGOQ30KQ6
Ontology : AmiGOlipopolysaccharide binding  extracellular region  negative regulation of lipopolysaccharide-mediated signaling pathway  negative regulation of MAP kinase activity  innate immune response  positive regulation of inflammatory response  defense response to Gram-negative bacterium  defense response to Gram-positive bacterium  antifungal innate immune response  negative regulation of tumor necrosis factor secretion  
Ontology : EGO-EBIlipopolysaccharide binding  extracellular region  negative regulation of lipopolysaccharide-mediated signaling pathway  negative regulation of MAP kinase activity  innate immune response  positive regulation of inflammatory response  defense response to Gram-negative bacterium  defense response to Gram-positive bacterium  antifungal innate immune response  negative regulation of tumor necrosis factor secretion  
NDEx NetworkDEFB114
Atlas of Cancer Signalling NetworkDEFB114
Wikipedia pathwaysDEFB114
Orthology - Evolution
OrthoDB245928
GeneTree (enSembl)ENSG00000177684
Phylogenetic Trees/Animal Genes : TreeFamDEFB114
HOVERGENQ30KQ6
HOGENOMQ30KQ6
Homologs : HomoloGeneDEFB114
Homology/Alignments : Family Browser (UCSC)DEFB114
Gene fusions - Rearrangements
Fusion : QuiverDEFB114
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDEFB114 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DEFB114
dbVarDEFB114
ClinVarDEFB114
1000_GenomesDEFB114 
Exome Variant ServerDEFB114
ExAC (Exome Aggregation Consortium)ENSG00000177684
GNOMAD BrowserENSG00000177684
Varsome BrowserDEFB114
Genetic variants : HAPMAP245928
Genomic Variants (DGV)DEFB114 [DGVbeta]
DECIPHERDEFB114 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDEFB114 
Mutations
ICGC Data PortalDEFB114 
TCGA Data PortalDEFB114 
Broad Tumor PortalDEFB114
OASIS PortalDEFB114 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDEFB114  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDEFB114
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 DEFB114
DgiDB (Drug Gene Interaction Database)DEFB114
DoCM (Curated mutations)DEFB114 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DEFB114 (select a term)
intoGenDEFB114
Cancer3DDEFB114(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615243   
Orphanet
DisGeNETDEFB114
MedgenDEFB114
Genetic Testing Registry DEFB114
NextProtQ30KQ6 [Medical]
TSGene245928
GENETestsDEFB114
Target ValidationDEFB114
Huge Navigator DEFB114 [HugePedia]
snp3D : Map Gene to Disease245928
BioCentury BCIQDEFB114
ClinGenDEFB114
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD245928
Chemical/Pharm GKB GenePA38491
Clinical trialDEFB114
Miscellaneous
canSAR (ICR)DEFB114 (select the gene name)
Probes
Litterature
PubMed4 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDEFB114
EVEXDEFB114
GoPubMedDEFB114
iHOPDEFB114
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 6 11:02:08 CET 2018

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