Atlas of Genetics and Cytogenetics in Oncology and Haematology


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HES5 (hes family bHLH transcription factor 5)

Identity

Alias (NCBI)bHLHb38
HGNC (Hugo) HES5
HGNC Alias symbbHLHb38
HGNC Previous namehairy and enhancer of split 5 (Drosophila)
LocusID (NCBI) 388585
Atlas_Id 49998
Location 1p36.32  [Link to chromosome band 1p36]
Location_base_pair Starts at 2528745 and ends at 2530263 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)HES5   19764
Cards
Entrez_Gene (NCBI)HES5  388585  hes family bHLH transcription factor 5
AliasesbHLHb38
GeneCards (Weizmann)HES5
Ensembl hg19 (Hinxton)ENSG00000197921 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000197921 [Gene_View]  ENSG00000197921 [Sequence]  chr1:2528745-2530263 [Contig_View]  HES5 [Vega]
ICGC DataPortalENSG00000197921
TCGA cBioPortalHES5
AceView (NCBI)HES5
Genatlas (Paris)HES5
WikiGenes388585
SOURCE (Princeton)HES5
Genetics Home Reference (NIH)HES5
Genomic and cartography
GoldenPath hg38 (UCSC)HES5  -     chr1:2528745-2530263 -  1p36.32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HES5  -     1p36.32   [Description]    (hg19-Feb_2009)
GoldenPathHES5 - 1p36.32 [CytoView hg19]  HES5 - 1p36.32 [CytoView hg38]
ImmunoBaseENSG00000197921
genome Data Viewer NCBIHES5 [Mapview hg19]  
OMIM607348   
Gene and transcription
Genbank (Entrez)BC087840 BX104111 DQ272660
RefSeq transcript (Entrez)NM_001010926
RefSeq genomic (Entrez)NC_000001 NT_187515
Consensus coding sequences : CCDS (NCBI)HES5
Alternative Splicing GalleryENSG00000197921
Gene ExpressionHES5 [ NCBI-GEO ]   HES5 [ EBI - ARRAY_EXPRESS ]   HES5 [ SEEK ]   HES5 [ MEM ]
Gene Expression Viewer (FireBrowse)HES5 [ Firebrowse - Broad ]
GenevisibleExpression of HES5 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)388585
GTEX Portal (Tissue expression)HES5
Human Protein AtlasENSG00000197921-HES5 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5TA89   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5TA89  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5TA89
Splice isoforms : SwissVarQ5TA89
PhosPhoSitePlusQ5TA89
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)HES5
DMDM Disease mutations388585
Blocks (Seattle)HES5
SuperfamilyQ5TA89
Human Protein Atlas [tissue]ENSG00000197921-HES5 [tissue]
Peptide AtlasQ5TA89
HPRD16240
IPIIPI00373977   IPI00847865   
Protein Interaction databases
DIP (DOE-UCLA)Q5TA89
IntAct (EBI)Q5TA89
FunCoupENSG00000197921
BioGRIDHES5
STRING (EMBL)HES5
ZODIACHES5
Ontologies - Pathways
QuickGOQ5TA89
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  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription repressor activity, RNA polymerase II-specific  DNA-binding transcription repressor activity, RNA polymerase II-specific  chondrocyte differentiation  chromatin binding  cellular_component  nucleus  nucleoplasm  cell adhesion  Notch signaling pathway  Notch signaling pathway  smoothened signaling pathway  brain development  transcription factor binding  positive regulation of cell proliferation  anterior/posterior pattern specification  oligodendrocyte development  telencephalon development  glial cell fate commitment  forebrain radial glial cell differentiation  neural tube development  central nervous system myelination  cell differentiation  positive regulation of BMP signaling pathway  regulation of myelination  positive regulation of tyrosine phosphorylation of STAT protein  camera-type eye development  regulation of cell differentiation  negative regulation of inner ear auditory receptor cell differentiation  negative regulation of neuron differentiation  positive regulation of Notch signaling pathway  positive regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  positive regulation of JAK-STAT cascade  protein dimerization activity  cell maturation  positive regulation of smooth muscle cell proliferation  astrocyte differentiation  negative regulation of astrocyte differentiation  negative regulation of oligodendrocyte differentiation  regulation of epithelial cell proliferation  regulation of neurogenesis  regulation of neurogenesis  cartilage development  inner ear receptor cell stereocilium organization  protein-containing complex assembly  comma-shaped body morphogenesis  S-shaped body morphogenesis  specification of loop of Henle identity  metanephric nephron tubule morphogenesis  establishment of epithelial cell polarity  neuronal stem cell population maintenance  negative regulation of stem cell differentiation  negative regulation of pro-B cell differentiation  negative regulation of forebrain neuron differentiation  
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  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription repressor activity, RNA polymerase II-specific  DNA-binding transcription repressor activity, RNA polymerase II-specific  chondrocyte differentiation  chromatin binding  cellular_component  nucleus  nucleoplasm  cell adhesion  Notch signaling pathway  Notch signaling pathway  smoothened signaling pathway  brain development  transcription factor binding  positive regulation of cell proliferation  anterior/posterior pattern specification  oligodendrocyte development  telencephalon development  glial cell fate commitment  forebrain radial glial cell differentiation  neural tube development  central nervous system myelination  cell differentiation  positive regulation of BMP signaling pathway  regulation of myelination  positive regulation of tyrosine phosphorylation of STAT protein  camera-type eye development  regulation of cell differentiation  negative regulation of inner ear auditory receptor cell differentiation  negative regulation of neuron differentiation  positive regulation of Notch signaling pathway  positive regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  positive regulation of JAK-STAT cascade  protein dimerization activity  cell maturation  positive regulation of smooth muscle cell proliferation  astrocyte differentiation  negative regulation of astrocyte differentiation  negative regulation of oligodendrocyte differentiation  regulation of epithelial cell proliferation  regulation of neurogenesis  regulation of neurogenesis  cartilage development  inner ear receptor cell stereocilium organization  protein-containing complex assembly  comma-shaped body morphogenesis  S-shaped body morphogenesis  specification of loop of Henle identity  metanephric nephron tubule morphogenesis  establishment of epithelial cell polarity  neuronal stem cell population maintenance  negative regulation of stem cell differentiation  negative regulation of pro-B cell differentiation  negative regulation of forebrain neuron differentiation  
Pathways : KEGGNotch signaling pathway   
NDEx NetworkHES5
Atlas of Cancer Signalling NetworkHES5
Wikipedia pathwaysHES5
Orthology - Evolution
OrthoDB388585
GeneTree (enSembl)ENSG00000197921
Phylogenetic Trees/Animal Genes : TreeFamHES5
HOGENOMQ5TA89
Homologs : HomoloGeneHES5
Homology/Alignments : Family Browser (UCSC)HES5
Gene fusions - Rearrangements
Fusion : QuiverHES5
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHES5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HES5
dbVarHES5
ClinVarHES5
MonarchHES5
1000_GenomesHES5 
Exome Variant ServerHES5
GNOMAD BrowserENSG00000197921
Varsome BrowserHES5
Genetic variants : HAPMAP388585
Genomic Variants (DGV)HES5 [DGVbeta]
DECIPHERHES5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHES5 
Mutations
ICGC Data PortalHES5 
TCGA Data PortalHES5 
Broad Tumor PortalHES5
OASIS PortalHES5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHES5  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DHES5
Mutations and Diseases : HGMDHES5
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch HES5
DgiDB (Drug Gene Interaction Database)HES5
DoCM (Curated mutations)HES5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HES5 (select a term)
intoGenHES5
Cancer3DHES5(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607348   
Orphanet
DisGeNETHES5
MedgenHES5
Genetic Testing Registry HES5
NextProtQ5TA89 [Medical]
TSGene388585
GENETestsHES5
Target ValidationHES5
Huge Navigator HES5 [HugePedia]
snp3D : Map Gene to Disease388585
BioCentury BCIQHES5
ClinGenHES5
Clinical trials, drugs, therapy
Protein Interactions : CTD388585
Pharm GKB GenePA134967985
Clinical trialHES5
Miscellaneous
canSAR (ICR)HES5 (select the gene name)
HarmonizomeHES5
DataMed IndexHES5
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHES5
EVEXHES5
GoPubMedHES5
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 : Mon Sep 14 14:14:13 CEST 2020

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