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BHLHE23 (basic helix-loop-helix family, member e23)

Identity

Alias_namesBHLHB4
basic helix-loop-helix domain containing, class B, 4
basic helix-loop-helix family, member e23
Alias_symbol (synonym)bA305P22.3
Beta4
bHLHe23
Other aliasBETA4
HGNC (Hugo) BHLHE23
LocusID (NCBI) 128408
Atlas_Id 60752
Location 20q13.33  [Link to chromosome band 20q13]
Location_base_pair Starts at 61637331 and ends at 61638387 bp from pter ( according to hg19-Feb_2009)

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)BHLHE23   16093
Cards
Entrez_Gene (NCBI)BHLHE23  128408  basic helix-loop-helix family, member e23
AliasesBETA4; BHLHB4; bA305P22.3
GeneCards (Weizmann)BHLHE23
Ensembl hg19 (Hinxton)ENSG00000125533 [Gene_View]  chr20:61637331-61638387 [Contig_View]  BHLHE23 [Vega]
Ensembl hg38 (Hinxton)ENSG00000125533 [Gene_View]  chr20:61637331-61638387 [Contig_View]  BHLHE23 [Vega]
ICGC DataPortalENSG00000125533
TCGA cBioPortalBHLHE23
AceView (NCBI)BHLHE23
Genatlas (Paris)BHLHE23
WikiGenes128408
SOURCE (Princeton)BHLHE23
Genetics Home Reference (NIH)BHLHE23
Genomic and cartography
GoldenPath hg19 (UCSC)BHLHE23  -     chr20:61637331-61638387 -  20q13.33   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)BHLHE23  -     20q13.33   [Description]    (hg38-Dec_2013)
EnsemblBHLHE23 - 20q13.33 [CytoView hg19]  BHLHE23 - 20q13.33 [CytoView hg38]
Mapping of homologs : NCBIBHLHE23 [Mapview hg19]  BHLHE23 [Mapview hg38]
OMIM609331   
Gene and transcription
Genbank (Entrez)BC137288 BC137308 BK000274
RefSeq transcript (Entrez)NM_080606
RefSeq genomic (Entrez)NC_000020 NC_018931 NT_011362 NW_004929419
Consensus coding sequences : CCDS (NCBI)BHLHE23
Cluster EST : UnigeneHs.551230 [ NCBI ]
CGAP (NCI)Hs.551230
Alternative Splicing GalleryENSG00000125533
Gene ExpressionBHLHE23 [ NCBI-GEO ]   BHLHE23 [ EBI - ARRAY_EXPRESS ]   BHLHE23 [ SEEK ]   BHLHE23 [ MEM ]
Gene Expression Viewer (FireBrowse)BHLHE23 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)128408
GTEX Portal (Tissue expression)BHLHE23
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NDY6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NDY6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NDY6
Splice isoforms : SwissVarQ8NDY6
PhosPhoSitePlusQ8NDY6
Domaine pattern : Prosite (Expaxy)BHLH (PS50888)   
Domains : Interpro (EBI)bHLH_dom   
Domain families : Pfam (Sanger)HLH (PF00010)   
Domain families : Pfam (NCBI)pfam00010   
Domain families : Smart (EMBL)HLH (SM00353)  
Conserved Domain (NCBI)BHLHE23
DMDM Disease mutations128408
Blocks (Seattle)BHLHE23
SuperfamilyQ8NDY6
Human Protein AtlasENSG00000125533
Peptide AtlasQ8NDY6
HPRD16550
IPIIPI00184650   
Protein Interaction databases
DIP (DOE-UCLA)Q8NDY6
IntAct (EBI)Q8NDY6
FunCoupENSG00000125533
BioGRIDBHLHE23
STRING (EMBL)BHLHE23
ZODIACBHLHE23
Ontologies - Pathways
QuickGOQ8NDY6
Ontology : AmiGODNA binding  nucleus  transcription, DNA-templated  regulation of transcription, DNA-templated  protein dimerization activity  
Ontology : EGO-EBIDNA binding  nucleus  transcription, DNA-templated  regulation of transcription, DNA-templated  protein dimerization activity  
NDEx NetworkBHLHE23
Atlas of Cancer Signalling NetworkBHLHE23
Wikipedia pathwaysBHLHE23
Orthology - Evolution
OrthoDB128408
GeneTree (enSembl)ENSG00000125533
Phylogenetic Trees/Animal Genes : TreeFamBHLHE23
HOVERGENQ8NDY6
HOGENOMQ8NDY6
Homologs : HomoloGeneBHLHE23
Homology/Alignments : Family Browser (UCSC)BHLHE23
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBHLHE23 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BHLHE23
dbVarBHLHE23
ClinVarBHLHE23
1000_GenomesBHLHE23 
Exome Variant ServerBHLHE23
ExAC (Exome Aggregation Consortium)BHLHE23 (select the gene name)
Genetic variants : HAPMAP128408
Genomic Variants (DGV)BHLHE23 [DGVbeta]
DECIPHER (Syndromes)20:61637331-61638387  ENSG00000125533
CONAN: Copy Number AnalysisBHLHE23 
Mutations
ICGC Data PortalBHLHE23 
TCGA Data PortalBHLHE23 
Broad Tumor PortalBHLHE23
OASIS PortalBHLHE23 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBHLHE23  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBHLHE23
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch BHLHE23
DgiDB (Drug Gene Interaction Database)BHLHE23
DoCM (Curated mutations)BHLHE23 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BHLHE23 (select a term)
intoGenBHLHE23
Cancer3DBHLHE23(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609331   
Orphanet
MedgenBHLHE23
Genetic Testing Registry BHLHE23
NextProtQ8NDY6 [Medical]
TSGene128408
GENETestsBHLHE23
Huge Navigator BHLHE23 [HugePedia]
snp3D : Map Gene to Disease128408
BioCentury BCIQBHLHE23
ClinGenBHLHE23
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD128408
Chemical/Pharm GKB GenePA164716615
Clinical trialBHLHE23
Miscellaneous
canSAR (ICR)BHLHE23 (select the gene name)
Probes
Litterature
PubMed8 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBHLHE23
EVEXBHLHE23
GoPubMedBHLHE23
iHOPBHLHE23
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 11:55:50 CET 2017

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