HEY2 (hes related family bHLH transcription factor with YRPW motif 2) - Rat Genome Database

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Gene: HEY2 (hes related family bHLH transcription factor with YRPW motif 2) Homo sapiens
Analyze
Symbol: HEY2
Name: hes related family bHLH transcription factor with YRPW motif 2
RGD ID: 1354369
HGNC Page HGNC
Description: Enables several functions, including DNA-binding transcription factor activity, RNA polymerase II-specific; RNA polymerase II-specific DNA-binding transcription factor binding activity; and histone deacetylase binding activity. Involved in negative regulation of transcription initiation from RNA polymerase II promoter; negative regulation of transcription regulatory region DNA binding activity; and vascular associated smooth muscle cell development. Part of transcription repressor complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: bHLHb32; cardiovascular basic helix-loop-helix factor 1; cardiovascular helix-loop-helix factor 1; CHF1; class B basic helix-loop-helix protein 32; GRIDLOCK; GRL; hairy and enhancer of split-related protein 2; hairy-related transcription factor 2; hairy/enhancer-of-split related with YRPW motif 2; hairy/enhancer-of-split related with YRPW motif protein 2; hCHF1; HERP1; hes-related family bHLH transcription factor with YRPW motif 2; HES-related repressor protein 1; HES-related repressor protein 2; HESR-2; HESR2; hHRT2; HRT-2; HRT2; MGC10720; protein gridlock homolog
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386125,749,632 - 125,761,269 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl6125,747,664 - 125,761,269 (+)EnsemblGRCh38hg38GRCh38
GRCh376126,070,778 - 126,082,415 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 366126,112,425 - 126,124,108 (+)NCBINCBI36hg18NCBI36
Build 346126,112,565 - 126,124,110NCBI
Celera6126,813,087 - 126,824,769 (+)NCBI
Cytogenetic Map6q22.31NCBI
HuRef6123,645,968 - 123,657,653 (+)NCBIHuRef
CHM1_16126,334,804 - 126,346,479 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
anterior/posterior axis specification  (IEA,ISO)
anterior/posterior pattern specification  (IBA)
aortic valve morphogenesis  (IEA,ISS,TAS)
arterial endothelial cell differentiation  (IEA,ISS)
artery development  (IEA,ISO)
ascending aorta morphogenesis  (IEA,ISS)
atrial septum morphogenesis  (IEA,ISS)
atrioventricular valve development  (IEA,ISO)
blood vessel development  (IEA,ISO)
blood vessel endothelial cell differentiation  (IEA,ISO)
cardiac conduction system development  (NAS)
cardiac epithelial to mesenchymal transition  (IEA,ISS)
cardiac left ventricle morphogenesis  (IEA,ISS)
cardiac muscle cell apoptotic process  (IEA,ISO)
cardiac muscle cell proliferation  (IEA,ISO)
cardiac muscle hypertrophy  (IEA,ISO)
cardiac muscle hypertrophy in response to stress  (IEA,ISO)
cardiac right ventricle morphogenesis  (IEA,ISS)
cardiac septum morphogenesis  (IEA,ISS)
cardiac vascular smooth muscle cell development  (IEA,ISO)
cardiac ventricle morphogenesis  (IEA,ISS)
cell fate commitment  (IEA,ISO)
circulatory system development  (IBA)
cochlea development  (IEA,ISO)
coronary vasculature morphogenesis  (IEA,ISO)
dorsal aorta morphogenesis  (IEA,ISS)
endocardial cushion to mesenchymal transition involved in heart valve formation  (IEA,ISO)
epithelial to mesenchymal transition involved in endocardial cushion formation  (TAS)
heart development  (IEA,ISO)
heart trabecula formation  (IEA)
labyrinthine layer blood vessel development  (IEA,ISS)
mesenchymal cell development  (IEA,ISS)
muscular septum morphogenesis  (IEA,ISS)
negative regulation of biomineral tissue development  (IEA,ISS)
negative regulation of cardiac muscle cell apoptotic process  (IEA,ISO)
negative regulation of cardiac vascular smooth muscle cell differentiation  (ISS)
negative regulation of gene expression  (IEA,ISO,ISS)
negative regulation of Notch signaling pathway  (IEA)
negative regulation of transcription by RNA polymerase II  (IDA,IEA,IMP,ISO)
negative regulation of transcription by transcription factor localization  (ISS)
negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation  (IEA,ISS)
negative regulation of transcription initiation from RNA polymerase II promoter  (IDA)
negative regulation of transcription regulatory region DNA binding  (IDA,IEA)
negative regulation of transcription, DNA-templated  (IDA,IEA)
Notch signaling involved in heart development  (IC,TAS)
Notch signaling pathway  (IBA,IEA,ISO,ISS)
outflow tract morphogenesis  (IEA,ISS)
pattern specification process  (IEA,ISO)
positive regulation of cardiac muscle cell proliferation  (IEA,ISO)
positive regulation of gene expression  (IEA,ISS)
positive regulation of heart rate  (IEA,ISO)
positive regulation of transcription by RNA polymerase II  (IEA,ISS)
protein-DNA complex assembly  (IEA,ISO)
pulmonary artery morphogenesis  (IEA,ISS)
pulmonary valve morphogenesis  (IEA,ISS)
regulation of gene expression  (IEA,ISO)
regulation of inner ear auditory receptor cell differentiation  (IEA,ISO)
regulation of neurogenesis  (IBA)
regulation of transcription by RNA polymerase II  (IBA)
regulation of transcription, DNA-templated  (IEA)
regulation of vasculogenesis  (IEA,ISS)
smooth muscle cell differentiation  (NAS)
tricuspid valve formation  (IEA,ISO)
tricuspid valve morphogenesis  (IEA,ISS)
umbilical cord morphogenesis  (IEA,ISS)
vascular associated smooth muscle cell development  (IEP)
vasculogenesis  (IEA,ISO,ISS)
ventricular cardiac muscle cell development  (IEA,ISS)
ventricular septum morphogenesis  (IEA,ISS)
ventricular trabecula myocardium morphogenesis  (IEA,ISO)

Cellular Component
chromatin  (ISA)
cytoplasm  (IEA,ISS)
nucleoplasm  (TAS)
nucleus  (IBA,IEA,ISO,ISS)
transcription repressor complex  (IDA)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:10415358   PMID:10692439   PMID:10710309   PMID:10860664   PMID:10924525   PMID:11095750   PMID:11486044   PMID:11486045   PMID:12372254   PMID:12477932   PMID:12535671   PMID:12548545  
PMID:14574404   PMID:15389319   PMID:15485867   PMID:15489334   PMID:15643620   PMID:15680351   PMID:15821257   PMID:16043483   PMID:16151017   PMID:16165016   PMID:16189514   PMID:16293227  
PMID:16329098   PMID:16682003   PMID:17217622   PMID:17611704   PMID:18239137   PMID:18266235   PMID:19274049   PMID:19802006   PMID:20951801   PMID:21290414   PMID:21362320   PMID:21454491  
PMID:21873635   PMID:22310065   PMID:23275563   PMID:23414517   PMID:23744056   PMID:23872634   PMID:24108462   PMID:24366871   PMID:25361534   PMID:25416956   PMID:25799559   PMID:25832314  
PMID:26068074   PMID:26186194   PMID:26729854   PMID:26786210   PMID:27129302   PMID:27191260   PMID:28473536   PMID:28514442   PMID:28637782   PMID:28694461   PMID:29636455   PMID:30125982  
PMID:30257372   PMID:31255287   PMID:31565805   PMID:32296183   PMID:32683582   PMID:32712748   PMID:32820247   PMID:32997309   PMID:33961781  


Genomics

Comparative Map Data
HEY2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386125,749,632 - 125,761,269 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl6125,747,664 - 125,761,269 (+)EnsemblGRCh38hg38GRCh38
GRCh376126,070,778 - 126,082,415 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 366126,112,425 - 126,124,108 (+)NCBINCBI36hg18NCBI36
Build 346126,112,565 - 126,124,110NCBI
Celera6126,813,087 - 126,824,769 (+)NCBI
Cytogenetic Map6q22.31NCBI
HuRef6123,645,968 - 123,657,653 (+)NCBIHuRef
CHM1_16126,334,804 - 126,346,479 (+)NCBICHM1_1
Hey2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391030,708,355 - 30,718,779 (-)NCBIGRCm39mm39
GRCm39 Ensembl1030,708,355 - 30,718,797 (-)Ensembl
GRCm381030,832,359 - 30,842,783 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1030,832,359 - 30,842,801 (-)EnsemblGRCm38mm10GRCm38
MGSCv371030,552,165 - 30,562,589 (-)NCBIGRCm37mm9NCBIm37
MGSCv361030,521,775 - 30,532,199 (-)NCBImm8
Celera1031,757,027 - 31,767,443 (-)NCBICelera
Cytogenetic Map10A4NCBI
Hey2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2126,822,131 - 26,832,218 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl126,822,131 - 26,832,218 (+)Ensembl
Rnor_6.0129,191,170 - 29,201,257 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl129,191,192 - 29,201,531 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0130,633,675 - 30,643,762 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4127,505,117 - 27,515,204 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1127,516,255 - 27,516,788 (+)NCBI
Celera125,500,527 - 25,510,614 (+)NCBICelera
Cytogenetic Map1p11NCBI
Hey2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554367,060,930 - 7,070,030 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554367,060,930 - 7,070,610 (+)NCBIChiLan1.0ChiLan1.0
HEY2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.16127,647,547 - 127,659,056 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl6127,647,547 - 127,659,056 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v06123,527,180 - 123,538,794 (+)NCBIMhudiblu_PPA_v0panPan3
HEY2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1164,630,656 - 64,646,546 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha165,440,361 - 65,450,303 (+)NCBI
ROS_Cfam_1.0164,840,402 - 64,850,338 (+)NCBI
ROS_Cfam_1.0 Ensembl164,839,247 - 64,850,338 (+)Ensembl
UMICH_Zoey_3.1164,769,017 - 64,778,950 (+)NCBI
UNSW_CanFamBas_1.0164,556,353 - 64,566,279 (+)NCBI
UU_Cfam_GSD_1.0165,207,272 - 65,217,212 (+)NCBI
Hey2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404946114,704,470 - 114,715,205 (+)NCBI
SpeTri2.0NW_0049366393,705,225 - 3,714,696 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HEY2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl137,219,883 - 37,231,385 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1137,219,887 - 37,231,321 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2140,989,466 - 41,000,901 (-)NCBISscrofa10.2Sscrofa10.2susScr3
HEY2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11347,965,808 - 47,977,435 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl1347,964,847 - 47,977,346 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604020,275,597 - 20,288,250 (-)NCBIVero_WHO_p1.0
Hey2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624753375,163 - 394,402 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
SHGC-78750  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376126,080,978 - 126,081,250UniSTSGRCh37
Build 366126,122,671 - 126,122,943RGDNCBI36
Celera6126,823,332 - 126,823,604RGD
Cytogenetic Map6q21UniSTS
HuRef6123,656,216 - 123,656,488UniSTS
TNG Radiation Hybrid Map660778.0UniSTS
stHey2seq  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376126,081,660 - 126,081,780UniSTSGRCh37
Build 366126,123,353 - 126,123,473RGDNCBI36
Celera6126,824,014 - 126,824,134RGD
Cytogenetic Map6q21UniSTS
HuRef6123,656,898 - 123,657,018UniSTS
HEY2_2351  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376126,080,394 - 126,081,084UniSTSGRCh37
Build 366126,122,087 - 126,122,777RGDNCBI36
Celera6126,822,748 - 126,823,438RGD
HuRef6123,655,632 - 123,656,322UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1234
Count of miRNA genes:473
Interacting mature miRNAs:534
Transcripts:ENST00000368364, ENST00000368365
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 81 1687 253 18 54 16 1907 728 760 74 673 242 2 310 1460
Low 2251 644 1439 594 757 437 2424 1438 2896 303 715 1279 162 894 1327 1
Below cutoff 49 602 22 6 849 7 17 15 27 24 37 53 3 1 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_012259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB044755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF173901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF232238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF237949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF311884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ249545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL078594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI549391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT020067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT020068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000368364   ⟹   ENSP00000357348
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6125,749,632 - 125,761,269 (+)Ensembl
RefSeq Acc Id: ENST00000368365   ⟹   ENSP00000357349
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6125,747,664 - 125,761,269 (+)Ensembl
RefSeq Acc Id: NM_012259   ⟹   NP_036391
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386125,749,632 - 125,761,269 (+)NCBI
GRCh376126,066,211 - 126,082,415 (+)NCBI
Build 366126,112,425 - 126,124,108 (+)NCBI Archive
HuRef6123,645,968 - 123,657,653 (+)ENTREZGENE
CHM1_16126,334,804 - 126,346,479 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017010627   ⟹   XP_016866116
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386125,749,870 - 125,761,269 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017010628   ⟹   XP_016866117
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386125,749,632 - 125,761,269 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_036391   ⟸   NM_012259
- UniProtKB: Q9UBP5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016866117   ⟸   XM_017010628
- Peptide Label: isoform X1
- UniProtKB: Q5TF93 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016866116   ⟸   XM_017010627
- Peptide Label: isoform X1
- UniProtKB: Q5TF93 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000357349   ⟸   ENST00000368365
RefSeq Acc Id: ENSP00000357348   ⟸   ENST00000368364
Protein Domains
bHLH   Orange

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UBP5-F1-model_v2 AlphaFold Q9UBP5 1-337 view protein structure

Promoters
RGD ID:7209067
Promoter ID:EPDNEW_H10280
Type:initiation region
Name:HEY2_1
Description:hes related family bHLH transcription factor with YRPW motif2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386125,749,633 - 125,749,693EPDNEW
RGD ID:6804058
Promoter ID:HG_KWN:54901
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour
Transcripts:ENST00000368365
Position:
Human AssemblyChrPosition (strand)Source
Build 366126,109,741 - 126,110,241 (+)MPROMDB
RGD ID:6804963
Promoter ID:HG_KWN:54902
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000042074,   OTTHUMT00000042076,   OTTHUMT00000042077,   UC003QAC.2
Position:
Human AssemblyChrPosition (strand)Source
Build 366126,110,746 - 126,112,597 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1 copy number loss See cases [RCV000051196] Chr6:108944899..132067720 [GRCh38]
Chr6:109266102..132388860 [GRCh37]
Chr6:109372795..132430553 [NCBI36]
Chr6:6q21-23.2		 pathogenic
GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1 copy number loss See cases [RCV000052196] Chr6:115601230..128514324 [GRCh38]
Chr6:115922394..128835469 [GRCh37]
Chr6:116029087..128877162 [NCBI36]
Chr6:6q22.1-22.33		 pathogenic
GRCh38/hg38 6q22.31-22.32(chr6:121829616-126154472)x1 copy number loss See cases [RCV000137174] Chr6:121829616..126154472 [GRCh38]
Chr6:122150762..126475618 [GRCh37]
Chr6:122192461..126517311 [NCBI36]
Chr6:6q22.31-22.32		 uncertain significance
GRCh38/hg38 6q22.31-22.33(chr6:125021773-127771834)x1 copy number loss See cases [RCV000137920] Chr6:125021773..127771834 [GRCh38]
Chr6:125342919..128092979 [GRCh37]
Chr6:125384618..128134672 [NCBI36]
Chr6:6q22.31-22.33		 uncertain significance
GRCh38/hg38 6q22.1-22.32(chr6:117607147-126699980)x3 copy number gain See cases [RCV000137726] Chr6:117607147..126699980 [GRCh38]
Chr6:117928310..127021125 [GRCh37]
Chr6:118035003..127062818 [NCBI36]
Chr6:6q22.1-22.32		 pathogenic
GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 copy number gain See cases [RCV000139729] Chr6:74382807..142040500 [GRCh38]
Chr6:75092523..142361637 [GRCh37]
Chr6:75149243..142403330 [NCBI36]
Chr6:6q13-24.1		 pathogenic
GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1 copy number loss See cases [RCV000141587] Chr6:106503719..125781219 [GRCh38]
Chr6:106951594..126102365 [GRCh37]
Chr6:107058287..126144058 [NCBI36]
Chr6:6q21-22.31		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6q22.31-23.2(chr6:122612641-131564463)x1 copy number loss See cases [RCV000511386] Chr6:122612641..131564463 [GRCh37]
Chr6:6q22.31-23.2		 pathogenic
GRCh37/hg19 6q21-23.2(chr6:112939290-132327952)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626432] Chr6:112939290..132327952 [GRCh37]
Chr6:6q21-23.2		 drug response
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_012259.3(HEY2):c.246+8A>T single nucleotide variant not provided [RCV000973396] Chr6:125752098 [GRCh38]
Chr6:126073244 [GRCh37]
Chr6:6q22.31		 benign
NM_012259.3(HEY2):c.889G>A (p.Val297Met) single nucleotide variant not provided [RCV000879419] Chr6:125759677 [GRCh38]
Chr6:126080823 [GRCh37]
Chr6:6q22.31		 likely benign
NM_012259.3(HEY2):c.222T>G (p.Leu74=) single nucleotide variant not provided [RCV000958864]|not specified [RCV001796333] Chr6:125752066 [GRCh38]
Chr6:126073212 [GRCh37]
Chr6:6q22.31		 benign
NM_012259.3(HEY2):c.163-13T>C single nucleotide variant not specified [RCV001700533] Chr6:125751994 [GRCh38]
Chr6:126073140 [GRCh37]
Chr6:6q22.31		 benign
NM_012259.3(HEY2):c.328+32del deletion not specified [RCV001795493] Chr6:125754564 [GRCh38]
Chr6:126075710 [GRCh37]
Chr6:6q22.31		 benign
GRCh37/hg19 6q22.31-22.33(chr6:122839432-128801386) copy number loss not specified [RCV002053616] Chr6:122839432..128801386 [GRCh37]
Chr6:6q22.31-22.33		 pathogenic
GRCh37/hg19 6q22.31-22.33(chr6:125037475-129494795)x1 copy number loss not provided [RCV001834303] Chr6:125037475..129494795 [GRCh37]
Chr6:6q22.31-22.33		 pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4881 AgrOrtholog
COSMIC HEY2 COSMIC
Ensembl Genes ENSG00000135547 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000357348 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000357349 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000368364 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000368365 ENTREZGENE, UniProtKB/TrEMBL
Gene3D-CATH 4.10.280.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000135547 GTEx
HGNC ID HGNC:4881 ENTREZGENE
Human Proteome Map HEY2 Human Proteome Map
InterPro bHLH_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HLH_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Orange_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23493 UniProtKB/Swiss-Prot
NCBI Gene 23493 ENTREZGENE
OMIM 604674 OMIM
Pfam Hairy_orange UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HLH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29259 PharmGKB
PROSITE BHLH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ORANGE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART HLH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ORANGE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47459 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt HEY2_HUMAN UniProtKB/Swiss-Prot
  Q5TF93 ENTREZGENE, UniProtKB/TrEMBL
  Q9UBP5 ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-29 HEY2  hes related family bHLH transcription factor with YRPW motif 2    hes-related family bHLH transcription factor with YRPW motif 2  Symbol and/or name change 5135510 APPROVED
2013-10-22 HEY2  hes-related family bHLH transcription factor with YRPW motif 2    hairy/enhancer-of-split related with YRPW motif 2  Symbol and/or name change 5135510 APPROVED
2011-08-17 HEY2  hairy/enhancer-of-split related with YRPW motif 2  HEY2  hairy/enhancer-of-split related with YRPW motif 2  Symbol and/or name change 5135510 APPROVED