Atlas of Genetics and Cytogenetics in Oncology and Haematology


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BHLHE40 (basic helix-loop-helix family member e40)

Identity

Alias_namesSTRA13
BHLHB2
basic helix-loop-helix domain containing, class B, 2
basic helix-loop-helix family, member e40
Alias_symbol (synonym)DEC1
bHLHe40
SHARP2
Clast5
Other aliasHLHB2
SHARP-2
Stra14
HGNC (Hugo) BHLHE40
LocusID (NCBI) 8553
Atlas_Id 50621
Location 3p26.1  [Link to chromosome band 3p26]
Location_base_pair Starts at 4979412 and ends at 4985180 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
BHLHE40 (3p26.1) / FBXL17 (5q21.3)BHLHE40 (3p26.1) / RPL13A (19q13.33)MALAT1 (11q13.1) / BHLHE40 (3p26.1)
TMEM2 (9q21.13) / BHLHE40 (3p26.1)XPO1 (2p15) / BHLHE40 (3p26.1)

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)BHLHE40   1046
Cards
Entrez_Gene (NCBI)BHLHE40  8553  basic helix-loop-helix family member e40
AliasesBHLHB2; Clast5; DEC1; HLHB2; 
SHARP-2; SHARP2; STRA13; Stra14
GeneCards (Weizmann)BHLHE40
Ensembl hg19 (Hinxton)ENSG00000134107 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000134107 [Gene_View]  chr3:4979412-4985180 [Contig_View]  BHLHE40 [Vega]
ICGC DataPortalENSG00000134107
TCGA cBioPortalBHLHE40
AceView (NCBI)BHLHE40
Genatlas (Paris)BHLHE40
WikiGenes8553
SOURCE (Princeton)BHLHE40
Genetics Home Reference (NIH)BHLHE40
Genomic and cartography
GoldenPath hg38 (UCSC)BHLHE40  -     chr3:4979412-4985180 +  3p26.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BHLHE40  -     3p26.1   [Description]    (hg19-Feb_2009)
EnsemblBHLHE40 - 3p26.1 [CytoView hg19]  BHLHE40 - 3p26.1 [CytoView hg38]
Mapping of homologs : NCBIBHLHE40 [Mapview hg19]  BHLHE40 [Mapview hg38]
OMIM604256   
Gene and transcription
Genbank (Entrez)AA632164 AB004066 AK293205 AK309173 AK312509
RefSeq transcript (Entrez)NM_003670
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)BHLHE40
Cluster EST : UnigeneHs.744856 [ NCBI ]
CGAP (NCI)Hs.744856
Alternative Splicing GalleryENSG00000134107
Gene ExpressionBHLHE40 [ NCBI-GEO ]   BHLHE40 [ EBI - ARRAY_EXPRESS ]   BHLHE40 [ SEEK ]   BHLHE40 [ MEM ]
Gene Expression Viewer (FireBrowse)BHLHE40 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8553
GTEX Portal (Tissue expression)BHLHE40
Protein : pattern, domain, 3D structure
UniProt/SwissProtO14503   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO14503  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO14503
Splice isoforms : SwissVarO14503
PhosPhoSitePlusO14503
Domaine pattern : Prosite (Expaxy)BHLH (PS50888)    ORANGE (PS51054)   
Domains : Interpro (EBI)bHLH_dom    Orange_dom   
Domain families : Pfam (Sanger)Hairy_orange (PF07527)    HLH (PF00010)   
Domain families : Pfam (NCBI)pfam07527    pfam00010   
Domain families : Smart (EMBL)HLH (SM00353)  ORANGE (SM00511)  
Conserved Domain (NCBI)BHLHE40
DMDM Disease mutations8553
Blocks (Seattle)BHLHE40
SuperfamilyO14503
Human Protein AtlasENSG00000134107
Peptide AtlasO14503
HPRD16050
IPIIPI00021143   IPI00910646   
Protein Interaction databases
DIP (DOE-UCLA)O14503
IntAct (EBI)O14503
FunCoupENSG00000134107
BioGRIDBHLHE40
STRING (EMBL)BHLHE40
ZODIACBHLHE40
Ontologies - Pathways
QuickGOO14503
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II transcription factor activity, sequence-specific DNA binding  transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding  RNA polymerase II activating transcription factor binding  transcriptional repressor activity, RNA polymerase II transcription factor binding  transcription factor activity, sequence-specific DNA binding  transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding  transcription corepressor activity  protein binding  nucleus  nucleus  cytoplasm  transcription, DNA-templated  regulation of transcription, DNA-templated  nuclear body  protein domain specific binding  circadian regulation of gene expression  protein homodimerization activity  entrainment of circadian clock by photoperiod  bHLH transcription factor binding  MRF binding  negative regulation of sequence-specific DNA binding transcription factor activity  negative regulation of transcription, DNA-templated  protein heterodimerization activity  E-box binding  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II transcription factor activity, sequence-specific DNA binding  transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding  RNA polymerase II activating transcription factor binding  transcriptional repressor activity, RNA polymerase II transcription factor binding  transcription factor activity, sequence-specific DNA binding  transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding  transcription corepressor activity  protein binding  nucleus  nucleus  cytoplasm  transcription, DNA-templated  regulation of transcription, DNA-templated  nuclear body  protein domain specific binding  circadian regulation of gene expression  protein homodimerization activity  entrainment of circadian clock by photoperiod  bHLH transcription factor binding  MRF binding  negative regulation of sequence-specific DNA binding transcription factor activity  negative regulation of transcription, DNA-templated  protein heterodimerization activity  E-box binding  
Pathways : KEGGCircadian rhythm   
NDEx NetworkBHLHE40
Atlas of Cancer Signalling NetworkBHLHE40
Wikipedia pathwaysBHLHE40
Orthology - Evolution
OrthoDB8553
GeneTree (enSembl)ENSG00000134107
Phylogenetic Trees/Animal Genes : TreeFamBHLHE40
HOVERGENO14503
HOGENOMO14503
Homologs : HomoloGeneBHLHE40
Homology/Alignments : Family Browser (UCSC)BHLHE40
Gene fusions - Rearrangements
Fusion : MitelmanXPO1/BHLHE40 [2p15/3p26.1]  [t(2;3)(p15;p26)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBHLHE40 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BHLHE40
dbVarBHLHE40
ClinVarBHLHE40
1000_GenomesBHLHE40 
Exome Variant ServerBHLHE40
ExAC (Exome Aggregation Consortium)BHLHE40 (select the gene name)
Genetic variants : HAPMAP8553
Genomic Variants (DGV)BHLHE40 [DGVbeta]
DECIPHERBHLHE40 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBHLHE40 
Mutations
ICGC Data PortalBHLHE40 
TCGA Data PortalBHLHE40 
Broad Tumor PortalBHLHE40
OASIS PortalBHLHE40 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBHLHE40  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBHLHE40
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch BHLHE40
DgiDB (Drug Gene Interaction Database)BHLHE40
DoCM (Curated mutations)BHLHE40 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BHLHE40 (select a term)
intoGenBHLHE40
Cancer3DBHLHE40(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604256   
Orphanet
MedgenBHLHE40
Genetic Testing Registry BHLHE40
NextProtO14503 [Medical]
TSGene8553
GENETestsBHLHE40
Target ValidationBHLHE40
Huge Navigator BHLHE40 [HugePedia]
snp3D : Map Gene to Disease8553
BioCentury BCIQBHLHE40
ClinGenBHLHE40
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8553
Chemical/Pharm GKB GenePA25347
Clinical trialBHLHE40
Miscellaneous
canSAR (ICR)BHLHE40 (select the gene name)
Probes
Litterature
PubMed82 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBHLHE40
EVEXBHLHE40
GoPubMedBHLHE40
iHOPBHLHE40
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 : Wed Jun 7 12:25:31 CEST 2017

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