Atlas of Genetics and Cytogenetics in Oncology and Haematology

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

Identity

Alias (NCBI)BHLHB3
DEC2
FNSS1
SHARP1
hDEC2
HGNC (Hugo) BHLHE41
HGNC Alias symbDEC2
SHARP-1
SHARP1
bHLHe41
HGNC Alias namedifferentially expressed in chondrocytes 2
 Enhancer-of-split and hairy-related protein 1
HGNC Previous nameBHLHB3
HGNC Previous namebasic helix-loop-helix domain containing, class B, 3
 basic helix-loop-helix family, member e41
LocusID (NCBI) 79365
Atlas_Id 50651
Location 12p12.1  [Link to chromosome band 12p12]
Location_base_pair Starts at 26120030 and ends at 26125037 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)
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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(X;12)(p22;p12) SHROOM2/BHLHE41

External links

Nomenclature
HGNC (Hugo)BHLHE41   16617
Cards
Entrez_Gene (NCBI)BHLHE41    basic helix-loop-helix family member e41
AliasesBHLHB3; DEC2; FNSS1; SHARP1; 
hDEC2
GeneCards (Weizmann)BHLHE41
Ensembl hg19 (Hinxton)ENSG00000123095 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000123095 [Gene_View]  ENSG00000123095 [Sequence]  chr12:26120030-26125037 [Contig_View]  BHLHE41 [Vega]
ICGC DataPortalENSG00000123095
TCGA cBioPortalBHLHE41
AceView (NCBI)BHLHE41
Genatlas (Paris)BHLHE41
SOURCE (Princeton)BHLHE41
Genetics Home Reference (NIH)BHLHE41
Genomic and cartography
GoldenPath hg38 (UCSC)BHLHE41  -     chr12:26120030-26125037 -  12p12.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BHLHE41  -     12p12.1   [Description]    (hg19-Feb_2009)
GoldenPathBHLHE41 - 12p12.1 [CytoView hg19]  BHLHE41 - 12p12.1 [CytoView hg38]
ImmunoBaseENSG00000123095
genome Data Viewer NCBIBHLHE41 [Mapview hg19]  
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
Alternative Splicing GalleryENSG00000123095
Gene ExpressionBHLHE41 [ NCBI-GEO ]   BHLHE41 [ EBI - ARRAY_EXPRESS ]   BHLHE41 [ SEEK ]   BHLHE41 [ MEM ]
Gene Expression Viewer (FireBrowse)BHLHE41 [ Firebrowse - Broad ]
GenevisibleExpression of BHLHE41 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79365
GTEX Portal (Tissue expression)BHLHE41
Human Protein AtlasENSG00000123095-BHLHE41 [pathology]   [cell]   [tissue]
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    HLH_DNA-bd_sf    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
Blocks (Seattle)BHLHE41
SuperfamilyQ9C0J9
Human Protein Atlas [tissue]ENSG00000123095-BHLHE41 [tissue]
Peptide AtlasQ9C0J9
HPRD16204
IPIIPI00006153   IPI00922591   
Protein Interaction databases
DIP (DOE-UCLA)Q9C0J9
IntAct (EBI)Q9C0J9
BioGRIDBHLHE41
STRING (EMBL)BHLHE41
ZODIACBHLHE41
Ontologies - Pathways
QuickGOQ9C0J9
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  negative regulation of transcription by RNA polymerase II  nuclear chromatin  RNA polymerase II regulatory region sequence-specific DNA binding  RNA polymerase II proximal promoter sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  RNA polymerase II activating transcription factor binding  DNA-binding transcription repressor activity, RNA polymerase II-specific  DNA-binding transcription repressor activity, RNA polymerase II-specific  transcription corepressor activity  protein binding  nucleus  anterior/posterior pattern specification  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  regulation of neurogenesis  E-box binding  E-box binding  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  negative regulation of transcription by RNA polymerase II  nuclear chromatin  RNA polymerase II regulatory region sequence-specific DNA binding  RNA polymerase II proximal promoter sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  RNA polymerase II activating transcription factor binding  DNA-binding transcription repressor activity, RNA polymerase II-specific  DNA-binding transcription repressor activity, RNA polymerase II-specific  transcription corepressor activity  protein binding  nucleus  anterior/posterior pattern specification  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  regulation of neurogenesis  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
HOGENOMQ9C0J9
Homologs : HomoloGeneBHLHE41
Homology/Alignments : Family Browser (UCSC)BHLHE41
Gene fusions - Rearrangements
Fusion : MitelmanSHROOM2/BHLHE41 [Xp22.2/12p12.1]  
Fusion PortalSHROOM2 Xp22.2 BHLHE41 12p12.1 LUAD
Fusion : QuiverBHLHE41
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBHLHE41 [hg38]
dbVarBHLHE41
ClinVarBHLHE41
MonarchBHLHE41
1000_GenomesBHLHE41 
Exome Variant ServerBHLHE41
GNOMAD BrowserENSG00000123095
Varsome BrowserBHLHE41
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]  
Somatic Mutations in Cancer : COSMIC3DBHLHE41
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] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606200    612975   
Orphanet
DisGeNETBHLHE41
MedgenBHLHE41
Genetic Testing Registry BHLHE41
NextProtQ9C0J9 [Medical]
GENETestsBHLHE41
Target ValidationBHLHE41
Huge Navigator BHLHE41 [HugePedia]
ClinGenBHLHE41
Clinical trials, drugs, therapy
MyCancerGenomeBHLHE41
Protein Interactions : CTD
Pharm GKB GenePA164716636
PharosQ9C0J9
Clinical trialBHLHE41
Miscellaneous
canSAR (ICR)BHLHE41 (select the gene name)
HarmonizomeBHLHE41
DataMed IndexBHLHE41
Probes
Litterature
PubMed61 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXBHLHE41
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jan 1 18:07:14 CET 2021
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