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DEFB123 (defensin beta 123)

Identity

Alias_namesdefensin, beta 123
Alias_symbol (synonym)DEFB-23
Other aliasDEFB23
ESC42-RELD
HGNC (Hugo) DEFB123
LocusID (NCBI) 245936
Atlas_Id 62409
Location 20q11.21  [Link to chromosome band 20q11]
Location_base_pair Starts at 31440519 and ends at 31450257 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
EIF2S2 (20q11.22) / DEFB123 (20q11.21)RALY (20q11.22) / DEFB123 (20q11.21)TPX2 (20q11.21) / DEFB123 (20q11.21)
EIF2S2 DEFB123RALY DEFB123

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)DEFB123   18103
Cards
Entrez_Gene (NCBI)DEFB123  245936  defensin beta 123
AliasesDEFB-23; DEFB23; ESC42-RELD
GeneCards (Weizmann)DEFB123
Ensembl hg19 (Hinxton)ENSG00000180424 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000180424 [Gene_View]  chr20:31440519-31450257 [Contig_View]  DEFB123 [Vega]
ICGC DataPortalENSG00000180424
TCGA cBioPortalDEFB123
AceView (NCBI)DEFB123
Genatlas (Paris)DEFB123
WikiGenes245936
SOURCE (Princeton)DEFB123
Genetics Home Reference (NIH)DEFB123
Genomic and cartography
GoldenPath hg38 (UCSC)DEFB123  -     chr20:31440519-31450257 +  20q11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DEFB123  -     20q11.21   [Description]    (hg19-Feb_2009)
EnsemblDEFB123 - 20q11.21 [CytoView hg19]  DEFB123 - 20q11.21 [CytoView hg38]
Mapping of homologs : NCBIDEFB123 [Mapview hg19]  DEFB123 [Mapview hg38]
OMIM616076   
Gene and transcription
Genbank (Entrez)AF479701 AY122475 AY358859 AY501002 BC126365
RefSeq transcript (Entrez)NM_153324
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DEFB123
Cluster EST : UnigeneHs.122509 [ NCBI ]
CGAP (NCI)Hs.122509
Alternative Splicing GalleryENSG00000180424
Gene ExpressionDEFB123 [ NCBI-GEO ]   DEFB123 [ EBI - ARRAY_EXPRESS ]   DEFB123 [ SEEK ]   DEFB123 [ MEM ]
Gene Expression Viewer (FireBrowse)DEFB123 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)245936
GTEX Portal (Tissue expression)DEFB123
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N688   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N688  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N688
Splice isoforms : SwissVarQ8N688
PhosPhoSitePlusQ8N688
Domains : Interpro (EBI)Beta_defensin   
Domain families : Pfam (Sanger)Defensin_beta_2 (PF13841)   
Domain families : Pfam (NCBI)pfam13841   
Domain structure : Prodom (Prabi Lyon)PD866254 (PD866254)   
Conserved Domain (NCBI)DEFB123
DMDM Disease mutations245936
Blocks (Seattle)DEFB123
SuperfamilyQ8N688
Human Protein AtlasENSG00000180424
Peptide AtlasQ8N688
HPRD10874
IPIIPI00166962   IPI00552971   
Protein Interaction databases
DIP (DOE-UCLA)Q8N688
IntAct (EBI)Q8N688
FunCoupENSG00000180424
BioGRIDDEFB123
STRING (EMBL)DEFB123
ZODIACDEFB123
Ontologies - Pathways
QuickGOQ8N688
Ontology : AmiGOextracellular region  defense response to bacterium  innate immune response  
Ontology : EGO-EBIextracellular region  defense response to bacterium  innate immune response  
NDEx NetworkDEFB123
Atlas of Cancer Signalling NetworkDEFB123
Wikipedia pathwaysDEFB123
Orthology - Evolution
OrthoDB245936
GeneTree (enSembl)ENSG00000180424
Phylogenetic Trees/Animal Genes : TreeFamDEFB123
HOVERGENQ8N688
HOGENOMQ8N688
Homologs : HomoloGeneDEFB123
Homology/Alignments : Family Browser (UCSC)DEFB123
Gene fusions - Rearrangements
Fusion: TCGAEIF2S2 DEFB123
Fusion: TCGARALY DEFB123
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDEFB123 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DEFB123
dbVarDEFB123
ClinVarDEFB123
1000_GenomesDEFB123 
Exome Variant ServerDEFB123
ExAC (Exome Aggregation Consortium)DEFB123 (select the gene name)
Genetic variants : HAPMAP245936
Genomic Variants (DGV)DEFB123 [DGVbeta]
DECIPHERDEFB123 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDEFB123 
Mutations
ICGC Data PortalDEFB123 
TCGA Data PortalDEFB123 
Broad Tumor PortalDEFB123
OASIS PortalDEFB123 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDEFB123  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDEFB123
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch DEFB123
DgiDB (Drug Gene Interaction Database)DEFB123
DoCM (Curated mutations)DEFB123 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DEFB123 (select a term)
intoGenDEFB123
Cancer3DDEFB123(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616076   
Orphanet
MedgenDEFB123
Genetic Testing Registry DEFB123
NextProtQ8N688 [Medical]
TSGene245936
GENETestsDEFB123
Target ValidationDEFB123
Huge Navigator DEFB123 [HugePedia]
snp3D : Map Gene to Disease245936
BioCentury BCIQDEFB123
ClinGenDEFB123
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD245936
Chemical/Pharm GKB GenePA38499
Clinical trialDEFB123
Miscellaneous
canSAR (ICR)DEFB123 (select the gene name)
Probes
Litterature
PubMed5 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDEFB123
EVEXDEFB123
GoPubMedDEFB123
iHOPDEFB123
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 15:45:39 CEST 2017

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