Atlas of Genetics and Cytogenetics in Oncology and Haematology


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HEY2 (hes related family bHLH transcription factor with YRPW motif 2)

Identity

Alias_nameshairy/enhancer-of-split related with YRPW motif 2
hes-related family bHLH transcription factor with YRPW motif 2
Alias_symbol (synonym)bHLHb32
HERP1
HESR2
Other aliasCHF1
GRIDLOCK
GRL
HRT2
HGNC (Hugo) HEY2
LocusID (NCBI) 23493
Atlas_Id 47515
Location 6q22.31  [Link to chromosome band 6q22]
Location_base_pair Starts at 125749586 and ends at 125761269 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)HEY2   4881
Cards
Entrez_Gene (NCBI)HEY2  23493  hes related family bHLH transcription factor with YRPW motif 2
AliasesCHF1; GRIDLOCK; GRL; HERP1; 
HESR2; HRT2; bHLHb32
GeneCards (Weizmann)HEY2
Ensembl hg19 (Hinxton)ENSG00000135547 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000135547 [Gene_View]  ENSG00000135547 [Sequence]  chr6:125749586-125761269 [Contig_View]  HEY2 [Vega]
ICGC DataPortalENSG00000135547
TCGA cBioPortalHEY2
AceView (NCBI)HEY2
Genatlas (Paris)HEY2
WikiGenes23493
SOURCE (Princeton)HEY2
Genetics Home Reference (NIH)HEY2
Genomic and cartography
GoldenPath hg38 (UCSC)HEY2  -     chr6:125749586-125761269 +  6q22.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HEY2  -     6q22.31   [Description]    (hg19-Feb_2009)
EnsemblHEY2 - 6q22.31 [CytoView hg19]  HEY2 - 6q22.31 [CytoView hg38]
Mapping of homologs : NCBIHEY2 [Mapview hg19]  HEY2 [Mapview hg38]
OMIM604674   
Gene and transcription
Genbank (Entrez)AB044755 AF173901 AF232238 AF237949 AF311884
RefSeq transcript (Entrez)NM_012259
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HEY2
Cluster EST : UnigeneHs.144287 [ NCBI ]
CGAP (NCI)Hs.144287
Alternative Splicing GalleryENSG00000135547
Gene ExpressionHEY2 [ NCBI-GEO ]   HEY2 [ EBI - ARRAY_EXPRESS ]   HEY2 [ SEEK ]   HEY2 [ MEM ]
Gene Expression Viewer (FireBrowse)HEY2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23493
GTEX Portal (Tissue expression)HEY2
Human Protein AtlasENSG00000135547-HEY2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UBP5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UBP5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UBP5
Splice isoforms : SwissVarQ9UBP5
PhosPhoSitePlusQ9UBP5
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)HEY2
DMDM Disease mutations23493
Blocks (Seattle)HEY2
SuperfamilyQ9UBP5
Human Protein Atlas [tissue]ENSG00000135547-HEY2 [tissue]
Peptide AtlasQ9UBP5
HPRD05243
IPIIPI00016845   IPI00643805   
Protein Interaction databases
DIP (DOE-UCLA)Q9UBP5
IntAct (EBI)Q9UBP5
FunCoupENSG00000135547
BioGRIDHEY2
STRING (EMBL)HEY2
ZODIACHEY2
Ontologies - Pathways
QuickGOQ9UBP5
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  negative regulation of transcription by RNA polymerase II  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 factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  transcription factor activity, RNA polymerase II core promoter sequence-specific DNA binding  proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific  proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific  RNA polymerase II activating transcription factor binding  blood vessel development  vasculogenesis  muscular septum morphogenesis  outflow tract morphogenesis  pulmonary valve morphogenesis  tricuspid valve morphogenesis  tricuspid valve formation  endocardial cushion to mesenchymal transition involved in heart valve formation  cardiac ventricle morphogenesis  cardiac left ventricle morphogenesis  cardiac right ventricle morphogenesis  ventricular trabecula myocardium morphogenesis  DNA-binding transcription factor activity  transcription corepressor activity  protein binding  nucleus  nucleus  nucleoplasm  cytoplasm  Notch signaling pathway  Notch signaling pathway  heart development  transcription factor binding  transcription factor binding  anterior/posterior axis specification  positive regulation of heart rate  negative regulation of transcription by transcription factor localization  negative regulation of gene expression  negative regulation of cardiac muscle cell apoptotic process  mesenchymal cell development  cardiac muscle hypertrophy in response to stress  Sin3 complex  transcriptional repressor complex  cell differentiation  ascending aorta morphogenesis  dorsal aorta morphogenesis  microsatellite binding  microsatellite binding  umbilical cord morphogenesis  protein homodimerization activity  histone deacetylase binding  sequence-specific DNA binding  sequence-specific DNA binding  cell fate commitment  regulation of inner ear auditory receptor cell differentiation  negative regulation of Notch signaling pathway  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  protein heterodimerization activity  regulation of neurogenesis  smooth muscle cell differentiation  ventricular cardiac muscle cell development  positive regulation of cardiac muscle cell proliferation  cardiac epithelial to mesenchymal transition  cardiac epithelial to mesenchymal transition  heart trabecula formation  cardiac septum morphogenesis  ventricular septum morphogenesis  atrial septum morphogenesis  negative regulation of transcription initiation from RNA polymerase II promoter  labyrinthine layer blood vessel development  arterial endothelial cell differentiation  cardiac vascular smooth muscle cell development  coronary vasculature morphogenesis  pulmonary artery morphogenesis  Notch signaling involved in heart development  protein-DNA complex assembly  cochlea development  vascular smooth muscle cell development  sequence-specific double-stranded DNA binding  negative regulation of transcription regulatory region DNA binding  negative regulation of cardiac vascular smooth muscle cell differentiation  negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation  regulation of vasculogenesis  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  negative regulation of transcription by RNA polymerase II  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 factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  transcription factor activity, RNA polymerase II core promoter sequence-specific DNA binding  proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific  proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific  RNA polymerase II activating transcription factor binding  blood vessel development  vasculogenesis  muscular septum morphogenesis  outflow tract morphogenesis  pulmonary valve morphogenesis  tricuspid valve morphogenesis  tricuspid valve formation  endocardial cushion to mesenchymal transition involved in heart valve formation  cardiac ventricle morphogenesis  cardiac left ventricle morphogenesis  cardiac right ventricle morphogenesis  ventricular trabecula myocardium morphogenesis  DNA-binding transcription factor activity  transcription corepressor activity  protein binding  nucleus  nucleus  nucleoplasm  cytoplasm  Notch signaling pathway  Notch signaling pathway  heart development  transcription factor binding  transcription factor binding  anterior/posterior axis specification  positive regulation of heart rate  negative regulation of transcription by transcription factor localization  negative regulation of gene expression  negative regulation of cardiac muscle cell apoptotic process  mesenchymal cell development  cardiac muscle hypertrophy in response to stress  Sin3 complex  transcriptional repressor complex  cell differentiation  ascending aorta morphogenesis  dorsal aorta morphogenesis  microsatellite binding  microsatellite binding  umbilical cord morphogenesis  protein homodimerization activity  histone deacetylase binding  sequence-specific DNA binding  sequence-specific DNA binding  cell fate commitment  regulation of inner ear auditory receptor cell differentiation  negative regulation of Notch signaling pathway  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  protein heterodimerization activity  regulation of neurogenesis  smooth muscle cell differentiation  ventricular cardiac muscle cell development  positive regulation of cardiac muscle cell proliferation  cardiac epithelial to mesenchymal transition  cardiac epithelial to mesenchymal transition  heart trabecula formation  cardiac septum morphogenesis  ventricular septum morphogenesis  atrial septum morphogenesis  negative regulation of transcription initiation from RNA polymerase II promoter  labyrinthine layer blood vessel development  arterial endothelial cell differentiation  cardiac vascular smooth muscle cell development  coronary vasculature morphogenesis  pulmonary artery morphogenesis  Notch signaling involved in heart development  protein-DNA complex assembly  cochlea development  vascular smooth muscle cell development  sequence-specific double-stranded DNA binding  negative regulation of transcription regulatory region DNA binding  negative regulation of cardiac vascular smooth muscle cell differentiation  negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation  regulation of vasculogenesis  
NDEx NetworkHEY2
Atlas of Cancer Signalling NetworkHEY2
Wikipedia pathwaysHEY2
Orthology - Evolution
OrthoDB23493
GeneTree (enSembl)ENSG00000135547
Phylogenetic Trees/Animal Genes : TreeFamHEY2
HOVERGENQ9UBP5
HOGENOMQ9UBP5
Homologs : HomoloGeneHEY2
Homology/Alignments : Family Browser (UCSC)HEY2
Gene fusions - Rearrangements
Fusion : QuiverHEY2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHEY2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HEY2
dbVarHEY2
ClinVarHEY2
1000_GenomesHEY2 
Exome Variant ServerHEY2
ExAC (Exome Aggregation Consortium)ENSG00000135547
GNOMAD BrowserENSG00000135547
Varsome BrowserHEY2
Genetic variants : HAPMAP23493
Genomic Variants (DGV)HEY2 [DGVbeta]
DECIPHERHEY2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHEY2 
Mutations
ICGC Data PortalHEY2 
TCGA Data PortalHEY2 
Broad Tumor PortalHEY2
OASIS PortalHEY2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHEY2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHEY2
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 HEY2
DgiDB (Drug Gene Interaction Database)HEY2
DoCM (Curated mutations)HEY2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HEY2 (select a term)
intoGenHEY2
Cancer3DHEY2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604674   
Orphanet
DisGeNETHEY2
MedgenHEY2
Genetic Testing Registry HEY2
NextProtQ9UBP5 [Medical]
TSGene23493
GENETestsHEY2
Target ValidationHEY2
Huge Navigator HEY2 [HugePedia]
snp3D : Map Gene to Disease23493
BioCentury BCIQHEY2
ClinGenHEY2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23493
Chemical/Pharm GKB GenePA29259
Clinical trialHEY2
Miscellaneous
canSAR (ICR)HEY2 (select the gene name)
Probes
Litterature
PubMed53 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHEY2
EVEXHEY2
GoPubMedHEY2
iHOPHEY2
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 : Tue Nov 6 11:10:38 CET 2018

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