Atlas of Genetics and Cytogenetics in Oncology and Haematology


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BHLHE41 (basic helix-loop-helix family member e41)

Identity

Alias_namesBHLHB3
basic helix-loop-helix domain containing, class B, 3
basic helix-loop-helix family, member e41
Alias_symbol (synonym)DEC2
SHARP-1
SHARP1
bHLHe41
Other aliashDEC2
HGNC (Hugo) BHLHE41
LocusID (NCBI) 79365
Atlas_Id 50651
Location 12p12.1  [Link to chromosome band 12p12]
Location_base_pair Starts at 26120026 and ends at 26125070 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
BHLHE41 (12p12.1) / NOMO2 (16p12.3)KHSRP (19p13.3) / BHLHE41 (12p12.1)SHROOM2 (Xp22.2) / BHLHE41 (12p12.1)
SHROOM2 Xp22.2 / BHLHE41 12p12.1

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)BHLHE41   16617
Cards
Entrez_Gene (NCBI)BHLHE41  79365  basic helix-loop-helix family member e41
AliasesBHLHB3; DEC2; SHARP1; hDEC2
GeneCards (Weizmann)BHLHE41
Ensembl hg19 (Hinxton)ENSG00000123095 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000123095 [Gene_View]  chr12:26120026-26125070 [Contig_View]  BHLHE41 [Vega]
ICGC DataPortalENSG00000123095
TCGA cBioPortalBHLHE41
AceView (NCBI)BHLHE41
Genatlas (Paris)BHLHE41
WikiGenes79365
SOURCE (Princeton)BHLHE41
Genetics Home Reference (NIH)BHLHE41
Genomic and cartography
GoldenPath hg38 (UCSC)BHLHE41  -     chr12:26120026-26125070 -  12p12.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BHLHE41  -     12p12.1   [Description]    (hg19-Feb_2009)
EnsemblBHLHE41 - 12p12.1 [CytoView hg19]  BHLHE41 - 12p12.1 [CytoView hg38]
Mapping of homologs : NCBIBHLHE41 [Mapview hg19]  BHLHE41 [Mapview hg38]
OMIM606200   612975   
Gene and transcription
Genbank (Entrez)AB044088 AJ270695 AK303677 AK311258 AW500664
RefSeq transcript (Entrez)NM_030762
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)BHLHE41
Cluster EST : UnigeneHs.177841 [ NCBI ]
CGAP (NCI)Hs.177841
Alternative Splicing GalleryENSG00000123095
Gene ExpressionBHLHE41 [ NCBI-GEO ]   BHLHE41 [ EBI - ARRAY_EXPRESS ]   BHLHE41 [ SEEK ]   BHLHE41 [ MEM ]
Gene Expression Viewer (FireBrowse)BHLHE41 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79365
GTEX Portal (Tissue expression)BHLHE41
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9C0J9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9C0J9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9C0J9
Splice isoforms : SwissVarQ9C0J9
PhosPhoSitePlusQ9C0J9
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)BHLHE41
DMDM Disease mutations79365
Blocks (Seattle)BHLHE41
SuperfamilyQ9C0J9
Human Protein AtlasENSG00000123095
Peptide AtlasQ9C0J9
HPRD16204
IPIIPI00006153   IPI00922591   
Protein Interaction databases
DIP (DOE-UCLA)Q9C0J9
IntAct (EBI)Q9C0J9
FunCoupENSG00000123095
BioGRIDBHLHE41
STRING (EMBL)BHLHE41
ZODIACBHLHE41
Ontologies - Pathways
QuickGOQ9C0J9
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II core promoter proximal region 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, RNA polymerase II distal enhancer sequence-specific binding  transcription corepressor activity  protein binding  nucleus  transcription, DNA-templated  cell proliferation  animal organ morphogenesis  negative regulation of myotube differentiation  negative regulation of transcription by competitive promoter binding  cell differentiation  circadian regulation of gene expression  protein homodimerization activity  histone deacetylase binding  bHLH transcription factor binding  bHLH transcription factor binding  MRF binding  negative regulation of transcription, DNA-templated  protein heterodimerization activity  protein heterodimerization activity  E-box binding  E-box binding  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II core promoter proximal region 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, RNA polymerase II distal enhancer sequence-specific binding  transcription corepressor activity  protein binding  nucleus  transcription, DNA-templated  cell proliferation  animal organ morphogenesis  negative regulation of myotube differentiation  negative regulation of transcription by competitive promoter binding  cell differentiation  circadian regulation of gene expression  protein homodimerization activity  histone deacetylase binding  bHLH transcription factor binding  bHLH transcription factor binding  MRF binding  negative regulation of transcription, DNA-templated  protein heterodimerization activity  protein heterodimerization activity  E-box binding  E-box binding  
Pathways : KEGGCircadian rhythm   
NDEx NetworkBHLHE41
Atlas of Cancer Signalling NetworkBHLHE41
Wikipedia pathwaysBHLHE41
Orthology - Evolution
OrthoDB79365
GeneTree (enSembl)ENSG00000123095
Phylogenetic Trees/Animal Genes : TreeFamBHLHE41
HOVERGENQ9C0J9
HOGENOMQ9C0J9
Homologs : HomoloGeneBHLHE41
Homology/Alignments : Family Browser (UCSC)BHLHE41
Gene fusions - Rearrangements
Fusion : MitelmanSHROOM2/BHLHE41 [Xp22.2/12p12.1]  [t(X;12)(p22;p12)]  
Fusion: TCGASHROOM2 Xp22.2 BHLHE41 12p12.1 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBHLHE41 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BHLHE41
dbVarBHLHE41
ClinVarBHLHE41
1000_GenomesBHLHE41 
Exome Variant ServerBHLHE41
ExAC (Exome Aggregation Consortium)BHLHE41 (select the gene name)
Genetic variants : HAPMAP79365
Genomic Variants (DGV)BHLHE41 [DGVbeta]
DECIPHERBHLHE41 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBHLHE41 
Mutations
ICGC Data PortalBHLHE41 
TCGA Data PortalBHLHE41 
Broad Tumor PortalBHLHE41
OASIS PortalBHLHE41 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBHLHE41  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBHLHE41
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 BHLHE41
DgiDB (Drug Gene Interaction Database)BHLHE41
DoCM (Curated mutations)BHLHE41 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BHLHE41 (select a term)
intoGenBHLHE41
Cancer3DBHLHE41(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606200    612975   
Orphanet
MedgenBHLHE41
Genetic Testing Registry BHLHE41
NextProtQ9C0J9 [Medical]
TSGene79365
GENETestsBHLHE41
Huge Navigator BHLHE41 [HugePedia]
snp3D : Map Gene to Disease79365
BioCentury BCIQBHLHE41
ClinGenBHLHE41
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD79365
Chemical/Pharm GKB GenePA164716636
Clinical trialBHLHE41
Miscellaneous
canSAR (ICR)BHLHE41 (select the gene name)
Probes
Litterature
PubMed50 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBHLHE41
EVEXBHLHE41
GoPubMedBHLHE41
iHOPBHLHE41
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 : Fri May 19 12:07:45 CEST 2017

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