Atlas of Genetics and Cytogenetics in Oncology and Haematology


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BHLHE22 (basic helix-loop-helix family member e22)

Identity

Alias_namesTNRC20
BHLHB5
trinucleotide repeat containing 20
basic helix-loop-helix domain containing, class B, 5
basic helix-loop-helix family, member e22
Alias_symbol (synonym)CAGL85
Beta3
bHLHe22
Other aliasBeta3a
HGNC (Hugo) BHLHE22
LocusID (NCBI) 27319
Atlas_Id 60751
Location 8q12.3  [Link to chromosome band 8q12]
Location_base_pair Starts at 64580238 and ends at 64583634 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)

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)BHLHE22   11963
Cards
Entrez_Gene (NCBI)BHLHE22  27319  basic helix-loop-helix family member e22
AliasesBHLHB5; Beta3; Beta3a; CAGL85; 
TNRC20
GeneCards (Weizmann)BHLHE22
Ensembl hg19 (Hinxton)ENSG00000180828 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000180828 [Gene_View]  chr8:64580238-64583634 [Contig_View]  BHLHE22 [Vega]
ICGC DataPortalENSG00000180828
TCGA cBioPortalBHLHE22
AceView (NCBI)BHLHE22
Genatlas (Paris)BHLHE22
WikiGenes27319
SOURCE (Princeton)BHLHE22
Genetics Home Reference (NIH)BHLHE22
Genomic and cartography
GoldenPath hg38 (UCSC)BHLHE22  -     chr8:64580238-64583634 +  8q12.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BHLHE22  -     8q12.3   [Description]    (hg19-Feb_2009)
EnsemblBHLHE22 - 8q12.3 [CytoView hg19]  BHLHE22 - 8q12.3 [CytoView hg38]
Mapping of homologs : NCBIBHLHE22 [Mapview hg19]  BHLHE22 [Mapview hg38]
OMIM613483   
Gene and transcription
Genbank (Entrez)AA927689 AI867692 AI968349 AK091333 AK293979
RefSeq transcript (Entrez)NM_152414
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)BHLHE22
Cluster EST : UnigeneHs.745052 [ NCBI ]
CGAP (NCI)Hs.745052
Alternative Splicing GalleryENSG00000180828
Gene ExpressionBHLHE22 [ NCBI-GEO ]   BHLHE22 [ EBI - ARRAY_EXPRESS ]   BHLHE22 [ SEEK ]   BHLHE22 [ MEM ]
Gene Expression Viewer (FireBrowse)BHLHE22 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)27319
GTEX Portal (Tissue expression)BHLHE22
Human Protein AtlasENSG00000180828-BHLHE22 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NFJ8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NFJ8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NFJ8
Splice isoforms : SwissVarQ8NFJ8
PhosPhoSitePlusQ8NFJ8
Domaine pattern : Prosite (Expaxy)BHLH (PS50888)   
Domains : Interpro (EBI)bHLH_dom    Bhlhe22   
Domain families : Pfam (Sanger)HLH (PF00010)   
Domain families : Pfam (NCBI)pfam00010   
Domain families : Smart (EMBL)HLH (SM00353)  
Conserved Domain (NCBI)BHLHE22
DMDM Disease mutations27319
Blocks (Seattle)BHLHE22
SuperfamilyQ8NFJ8
Human Protein Atlas [tissue]ENSG00000180828-BHLHE22 [tissue]
Peptide AtlasQ8NFJ8
HPRD16551
IPIIPI00168844   
Protein Interaction databases
DIP (DOE-UCLA)Q8NFJ8
IntAct (EBI)Q8NFJ8
FunCoupENSG00000180828
BioGRIDBHLHE22
STRING (EMBL)BHLHE22
ZODIACBHLHE22
Ontologies - Pathways
QuickGOQ8NFJ8
Ontology : AmiGORNA polymerase II transcription factor activity, sequence-specific DNA binding  nucleus  transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  neurogenesis  protein dimerization activity  
Ontology : EGO-EBIRNA polymerase II transcription factor activity, sequence-specific DNA binding  nucleus  transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  neurogenesis  protein dimerization activity  
NDEx NetworkBHLHE22
Atlas of Cancer Signalling NetworkBHLHE22
Wikipedia pathwaysBHLHE22
Orthology - Evolution
OrthoDB27319
GeneTree (enSembl)ENSG00000180828
Phylogenetic Trees/Animal Genes : TreeFamBHLHE22
HOVERGENQ8NFJ8
HOGENOMQ8NFJ8
Homologs : HomoloGeneBHLHE22
Homology/Alignments : Family Browser (UCSC)BHLHE22
Gene fusions - Rearrangements
Fusion: Tumor Portal BHLHE22
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBHLHE22 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BHLHE22
dbVarBHLHE22
ClinVarBHLHE22
1000_GenomesBHLHE22 
Exome Variant ServerBHLHE22
ExAC (Exome Aggregation Consortium)ENSG00000180828
GNOMAD BrowserENSG00000180828
Genetic variants : HAPMAP27319
Genomic Variants (DGV)BHLHE22 [DGVbeta]
DECIPHERBHLHE22 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBHLHE22 
Mutations
ICGC Data PortalBHLHE22 
TCGA Data PortalBHLHE22 
Broad Tumor PortalBHLHE22
OASIS PortalBHLHE22 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBHLHE22  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBHLHE22
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch BHLHE22
DgiDB (Drug Gene Interaction Database)BHLHE22
DoCM (Curated mutations)BHLHE22 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BHLHE22 (select a term)
intoGenBHLHE22
Cancer3DBHLHE22(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM613483   
Orphanet
MedgenBHLHE22
Genetic Testing Registry BHLHE22
NextProtQ8NFJ8 [Medical]
TSGene27319
GENETestsBHLHE22
Target ValidationBHLHE22
Huge Navigator BHLHE22 [HugePedia]
snp3D : Map Gene to Disease27319
BioCentury BCIQBHLHE22
ClinGenBHLHE22
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD27319
Chemical/Pharm GKB GenePA36650
Clinical trialBHLHE22
Miscellaneous
canSAR (ICR)BHLHE22 (select the gene name)
Probes
Litterature
PubMed7 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBHLHE22
EVEXBHLHE22
GoPubMedBHLHE22
iHOPBHLHE22
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 : Thu Nov 9 11:39:03 CET 2017

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