| Nomenclature |
|---|
| HGNC (Hugo) | BHLHE41 16617 |
| Cards |
|---|
| Entrez_Gene (NCBI) | BHLHE41 79365 basic helix-loop-helix family member e41 |
| Aliases | BHLHB3; DEC2; FNSS1; SHARP1; |
| hDEC2 |
| GeneCards (Weizmann) | BHLHE41 |
| Ensembl hg19 (Hinxton) | ENSG00000123095 [Gene_View] |
| Ensembl hg38 (Hinxton) | ENSG00000123095 [Gene_View] ENSG00000123095 [Sequence] chr12:26120026-26125070 [Contig_View] BHLHE41 [Vega] |
| ICGC DataPortal | ENSG00000123095 |
| TCGA cBioPortal | BHLHE41 |
| AceView (NCBI) | BHLHE41 |
| Genatlas (Paris) | BHLHE41 |
| WikiGenes | 79365 |
| 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) |
| GoldenPath | BHLHE41 - 12p12.1 [CytoView hg19] BHLHE41 - 12p12.1 [CytoView hg38] |
| ImmunoBase | ENSG00000123095 |
| Mapping of homologs : NCBI | BHLHE41 [Mapview hg19] BHLHE41 [Mapview hg38] |
| OMIM | 606200 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 Gallery | ENSG00000123095 |
| Gene Expression | BHLHE41 [ 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] |
| Genevestigator | Expression in : [tissues] [cell-lines] [cancer] [perturbations] |
| BioGPS (Tissue expression) | 79365 |
| GTEX Portal (Tissue expression) | BHLHE41 |
| Human Protein Atlas | ENSG00000123095-BHLHE41 [pathology] [cell] [tissue] |
| Protein : pattern, domain, 3D structure |
|---|
| UniProt/SwissProt | Q9C0J9 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction] |
| NextProt | Q9C0J9 [Sequence] [Exons] [Medical] [Publications] |
| With graphics : InterPro | Q9C0J9 |
| Splice isoforms : SwissVar | Q9C0J9 |
| PhosPhoSitePlus | Q9C0J9 |
| 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 |
| DMDM Disease mutations | 79365 |
| Blocks (Seattle) | BHLHE41 |
| Superfamily | Q9C0J9 |
| Human Protein Atlas [tissue] | ENSG00000123095-BHLHE41 [tissue] |
| Peptide Atlas | Q9C0J9 |
| HPRD | 16204 |
| IPI | IPI00006153 IPI00922591 |
| Protein Interaction databases |
|---|
| DIP (DOE-UCLA) | Q9C0J9 |
| IntAct (EBI) | Q9C0J9 |
| FunCoup | ENSG00000123095 |
| BioGRID | BHLHE41 |
| STRING (EMBL) | BHLHE41 |
| ZODIAC | BHLHE41 |
| Ontologies - Pathways |
|---|
| QuickGO | Q9C0J9 |
| Ontology : AmiGO | negative 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 RNA polymerase II distal enhancer 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 cell proliferation animal organ morphogenesis anterior/posterior pattern specification negative regulation of myotube differentiation negative regulation of transcription by competitive promoter binding cell differentiation 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 regulation of neurogenesis E-box binding E-box binding |
| Ontology : EGO-EBI | negative 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 RNA polymerase II distal enhancer 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 cell proliferation animal organ morphogenesis anterior/posterior pattern specification negative regulation of myotube differentiation negative regulation of transcription by competitive promoter binding cell differentiation 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 regulation of neurogenesis E-box binding E-box binding |
| Pathways : KEGG | Circadian rhythm |
| NDEx Network | BHLHE41 |
| Atlas of Cancer Signalling Network | BHLHE41 |
| Wikipedia pathways | BHLHE41 |
| Orthology - Evolution |
|---|
| OrthoDB | 79365 |
| GeneTree (enSembl) | ENSG00000123095 |
| Phylogenetic Trees/Animal Genes : TreeFam | BHLHE41 |
| HOGENOM | Q9C0J9 |
| Homologs : HomoloGene | BHLHE41 |
| Homology/Alignments : Family Browser (UCSC) | BHLHE41 |
| Gene fusions - Rearrangements |
|---|
| Fusion : Mitelman | SHROOM2/BHLHE41 [Xp22.2/12p12.1] [t(X;12)(p22;p12)] |
| Fusion Portal | SHROOM2 Xp22.2 BHLHE41 12p12.1 LUAD |
| Fusion : Quiver | BHLHE41 |
| Polymorphisms : SNP and Copy number variants |
|---|
| NCBI Variation Viewer | BHLHE41 [hg38] |
| dbSNP Single Nucleotide Polymorphism (NCBI) | BHLHE41 |
| dbVar | BHLHE41 |
| ClinVar | BHLHE41 |
| 1000_Genomes | BHLHE41 |
| Exome Variant Server | BHLHE41 |
| ExAC (Exome Aggregation Consortium) | ENSG00000123095 |
| GNOMAD Browser | ENSG00000123095 |
| Varsome Browser | BHLHE41 |
| Genetic variants : HAPMAP | 79365 |
| Genomic Variants (DGV) | BHLHE41 [DGVbeta] |
| DECIPHER | BHLHE41 [patients] [syndromes] [variants] [genes] |
| CONAN: Copy Number Analysis | BHLHE41 |
| Mutations |
|---|
| ICGC Data Portal | BHLHE41 |
| TCGA Data Portal | BHLHE41 |
| Broad Tumor Portal | BHLHE41 |
| OASIS Portal | BHLHE41 [ Somatic mutations - Copy number] |
| Somatic Mutations in Cancer : COSMIC | BHLHE41 [overview] [genome browser] [tissue] [distribution] |
| Somatic Mutations in Cancer : COSMIC3D | BHLHE41 |
| Mutations and Diseases : HGMD | BHLHE41 |
| 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 |
| BioMuta | search 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) |
| intoGen | BHLHE41 |
| Cancer3D | BHLHE41(select the gene name) |
| Impact of mutations | [PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser] |
| Diseases |
|---|
| OMIM | 606200 612975 |
| Orphanet | |
| DisGeNET | BHLHE41 |
| Medgen | BHLHE41 |
| Genetic Testing Registry | BHLHE41
|
| NextProt | Q9C0J9 [Medical] |
| TSGene | 79365 |
| GENETests | BHLHE41 |
| Target Validation | BHLHE41 |
| Huge Navigator |
BHLHE41 [HugePedia] |
| snp3D : Map Gene to Disease | 79365 |
| BioCentury BCIQ | BHLHE41 |
| ClinGen | BHLHE41 |
| Clinical trials, drugs, therapy |
|---|
| Chemical/Protein Interactions : CTD | 79365 |
| Chemical/Pharm GKB Gene | PA164716636 |
| Clinical trial | BHLHE41 |
| Miscellaneous |
|---|
| canSAR (ICR) | BHLHE41 (select the gene name) |
| DataMed Index | BHLHE41 |
| Probes |
|---|
| Litterature |
|---|
| PubMed | 61 Pubmed reference(s) in Entrez |
| GeneRIFs | Gene References Into Functions (Entrez) |
| CoreMine | BHLHE41 |
| EVEX | BHLHE41 |
| GoPubMed | BHLHE41 |
| iHOP | BHLHE41 |
