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DEFB121 (defensin beta 121)

Identity

Alias_namesdefensin, beta 121
Alias_symbol (synonym)DEFB-21
Other aliasDEFB21
ESC42RELC
HGNC (Hugo) DEFB121
LocusID (NCBI) 245934
Atlas_Id 62407
Location 20q11.21  [Link to chromosome band 20q11]
Location_base_pair Starts at 31404845 and ends at 31406266 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)DEFB121   18101
Cards
Entrez_Gene (NCBI)DEFB121  245934  defensin beta 121
AliasesDEFB21; ESC42RELC
GeneCards (Weizmann)DEFB121
Ensembl hg19 (Hinxton)ENSG00000204548 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000204548 [Gene_View]  chr20:31404845-31406266 [Contig_View]  DEFB121 [Vega]
ICGC DataPortalENSG00000204548
TCGA cBioPortalDEFB121
AceView (NCBI)DEFB121
Genatlas (Paris)DEFB121
WikiGenes245934
SOURCE (Princeton)DEFB121
Genetics Home Reference (NIH)DEFB121
Genomic and cartography
GoldenPath hg38 (UCSC)DEFB121  -     chr20:31404845-31406266 -  20q11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DEFB121  -     20q11.21   [Description]    (hg19-Feb_2009)
EnsemblDEFB121 - 20q11.21 [CytoView hg19]  DEFB121 - 20q11.21 [CytoView hg38]
Mapping of homologs : NCBIDEFB121 [Mapview hg19]  DEFB121 [Mapview hg38]
OMIM616075   
Gene and transcription
Genbank (Entrez)AF479700 AI476463 AY501000 BC130607 BC130609
RefSeq transcript (Entrez)NM_001011878 NM_001171832
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DEFB121
Cluster EST : UnigeneHs.272294 [ NCBI ]
CGAP (NCI)Hs.272294
Alternative Splicing GalleryENSG00000204548
Gene ExpressionDEFB121 [ NCBI-GEO ]   DEFB121 [ EBI - ARRAY_EXPRESS ]   DEFB121 [ SEEK ]   DEFB121 [ MEM ]
Gene Expression Viewer (FireBrowse)DEFB121 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)245934
GTEX Portal (Tissue expression)DEFB121
Human Protein AtlasENSG00000204548-DEFB121 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5J5C9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5J5C9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5J5C9
Splice isoforms : SwissVarQ5J5C9
PhosPhoSitePlusQ5J5C9
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)DEFB121
DMDM Disease mutations245934
Blocks (Seattle)DEFB121
SuperfamilyQ5J5C9
Human Protein Atlas [tissue]ENSG00000204548-DEFB121 [tissue]
Peptide AtlasQ5J5C9
HPRD16791
IPIIPI00553027   IPI00552408   
Protein Interaction databases
DIP (DOE-UCLA)Q5J5C9
IntAct (EBI)Q5J5C9
FunCoupENSG00000204548
BioGRIDDEFB121
STRING (EMBL)DEFB121
ZODIACDEFB121
Ontologies - Pathways
QuickGOQ5J5C9
Ontology : AmiGOmolecular_function  protein binding  extracellular region  defense response to bacterium  innate immune response  
Ontology : EGO-EBImolecular_function  protein binding  extracellular region  defense response to bacterium  innate immune response  
NDEx NetworkDEFB121
Atlas of Cancer Signalling NetworkDEFB121
Wikipedia pathwaysDEFB121
Orthology - Evolution
OrthoDB245934
GeneTree (enSembl)ENSG00000204548
Phylogenetic Trees/Animal Genes : TreeFamDEFB121
HOVERGENQ5J5C9
HOGENOMQ5J5C9
Homologs : HomoloGeneDEFB121
Homology/Alignments : Family Browser (UCSC)DEFB121
Gene fusions - Rearrangements
Tumor Fusion PortalDEFB121
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDEFB121 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DEFB121
dbVarDEFB121
ClinVarDEFB121
1000_GenomesDEFB121 
Exome Variant ServerDEFB121
ExAC (Exome Aggregation Consortium)ENSG00000204548
GNOMAD BrowserENSG00000204548
Genetic variants : HAPMAP245934
Genomic Variants (DGV)DEFB121 [DGVbeta]
DECIPHERDEFB121 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDEFB121 
Mutations
ICGC Data PortalDEFB121 
TCGA Data PortalDEFB121 
Broad Tumor PortalDEFB121
OASIS PortalDEFB121 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDEFB121  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDEFB121
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch DEFB121
DgiDB (Drug Gene Interaction Database)DEFB121
DoCM (Curated mutations)DEFB121 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DEFB121 (select a term)
intoGenDEFB121
Cancer3DDEFB121(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616075   
Orphanet
DisGeNETDEFB121
MedgenDEFB121
Genetic Testing Registry DEFB121
NextProtQ5J5C9 [Medical]
TSGene245934
GENETestsDEFB121
Target ValidationDEFB121
Huge Navigator DEFB121 [HugePedia]
snp3D : Map Gene to Disease245934
BioCentury BCIQDEFB121
ClinGenDEFB121
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD245934
Chemical/Pharm GKB GenePA38497
Clinical trialDEFB121
Miscellaneous
canSAR (ICR)DEFB121 (select the gene name)
Probes
Litterature
PubMed5 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDEFB121
EVEXDEFB121
GoPubMedDEFB121
iHOPDEFB121
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Nov 20 19:26:08 CET 2017

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