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:4881
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 by RNA polymerase II and vascular associated smooth muscle cell development. Part of transcription repressor complex. Biomarker of hemangiopericytoma and varicose veins.
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 Orthologs
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.p14 Ensembl6125,747,664 - 125,761,269 (+)Ensemblhg38GRCh38
GRCh376126,070,778 - 126,082,415 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 366126,112,425 - 126,124,108 (+)NCBIBuild 36Build 36hg18NCBI36
Build 346126,112,565 - 126,124,110NCBI
Celera6126,813,087 - 126,824,769 (+)NCBICelera
Cytogenetic Map6q22.31NCBI
HuRef6123,645,968 - 123,657,653 (+)NCBIHuRef
CHM1_16126,334,804 - 126,346,479 (+)NCBICHM1_1
T2T-CHM13v2.06126,938,147 - 126,949,784 (+)NCBIT2T-CHM13v2.0
JBrowse:




Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-(3,4-dimethoxyphenyl)-5-\{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino\}-2-(propan-2-yl)pentanenitrile  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-methyladenine  (ISO)
4,4'-sulfonyldiphenol  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (EXP)
acrylamide  (EXP,ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
arsane  (ISO)
arsenic atom  (ISO)
arsenous acid  (EXP)
baicalein  (EXP)
baicalin  (EXP)
belinostat  (EXP)
benzo[a]pyrene  (EXP,ISO)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
capsaicin  (ISO)
carbon nanotube  (EXP)
CGP 52608  (EXP)
choline  (ISO)
cisplatin  (EXP,ISO)
Cuprizon  (ISO)
cypermethrin  (EXP,ISO)
DAPT  (EXP,ISO)
diallyl trisulfide  (EXP)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dioxygen  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
endosulfan  (ISO)
entinostat  (EXP)
folic acid  (ISO)
L-methionine  (ISO)
lead diacetate  (ISO)
lipopolysaccharide  (EXP)
maneb  (ISO)
methylisothiazolinone  (EXP)
methylmercury chloride  (EXP)
N-acetyl-L-cysteine  (EXP)
nickel atom  (EXP)
niclosamide  (EXP,ISO)
okadaic acid  (EXP)
oxaliplatin  (ISO)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
phenylephrine  (ISO)
poly(I:C)  (ISO)
raloxifene  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
sodium arsenite  (EXP)
thiram  (EXP)
titanium dioxide  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
triclosan  (EXP)
triptonide  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
verapamil  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

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

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

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

References - curated
# Reference Title Reference Citation
1. Delta-Notch--and then? Protein interactions and proposed modes of repression by Hes and Hey bHLH factors. Fischer A and Gessler M, Nucleic Acids Res. 2007;35(14):4583-96. Epub 2007 Jun 22.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. HERP1 is a cell type-specific primary target of Notch. Iso T, etal., J Biol Chem 2002 Feb 22;277(8):6598-607.
4. NOTCH1 signaling induces pathological vascular permeability in diabetic retinopathy. Miloudi K, etal., Proc Natl Acad Sci U S A. 2019 Mar 5;116(10):4538-4547. doi: 10.1073/pnas.1814711116. Epub 2019 Feb 20.
5. Activation of multiple angiogenic signaling pathways in hemangiopericytoma. Pierscianek D, etal., Brain Tumor Pathol. 2016 Jul;33(3):200-8. doi: 10.1007/s10014-016-0256-6. Epub 2016 Mar 7.
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. Arterialization and anomalous vein wall remodeling in varicose veins is associated with upregulated FoxC2-Dll4 pathway. Surendran S, etal., Lab Invest. 2016 Apr;96(4):399-408. doi: 10.1038/labinvest.2015.167. Epub 2016 Jan 25.
8. Coordinate Notch3-hairy-related transcription factor pathway regulation in response to arterial injury. Mediator role of platelet-derived growth factor and ERK. Wang W, etal., J Biol Chem 2002 Jun 28;277(26):23165-71.
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   PMID:34819669   PMID:36724073  


Genomics

Comparative Map Data
HEY2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386125,749,632 - 125,761,269 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6125,747,664 - 125,761,269 (+)Ensemblhg38GRCh38
GRCh376126,070,778 - 126,082,415 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 366126,112,425 - 126,124,108 (+)NCBIBuild 36Build 36hg18NCBI36
Build 346126,112,565 - 126,124,110NCBI
Celera6126,813,087 - 126,824,769 (+)NCBICelera
Cytogenetic Map6q22.31NCBI
HuRef6123,645,968 - 123,657,653 (+)NCBIHuRef
CHM1_16126,334,804 - 126,346,479 (+)NCBICHM1_1
T2T-CHM13v2.06126,938,147 - 126,949,784 (+)NCBIT2T-CHM13v2.0
Hey2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391030,708,355 - 30,718,779 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1030,708,355 - 30,718,797 (-)EnsemblGRCm39 EnsemblGRCm39
GRCm381030,832,359 - 30,842,783 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1030,832,359 - 30,842,801 (-)Ensemblmm10GRCm38
MGSCv371030,552,165 - 30,562,589 (-)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv361030,521,775 - 30,532,199 (-)NCBIMGSCv36mm8
Celera1031,757,027 - 31,767,443 (-)NCBICelera
Cytogenetic Map10A4NCBI
cM Map1017.19NCBI
Hey2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8128,641,100 - 28,651,187 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl128,641,057 - 28,651,187 (+)EnsemblGRCr8
mRatBN7.2126,822,131 - 26,832,218 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl126,822,131 - 26,832,218 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx126,573,165 - 26,583,262 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0132,572,976 - 32,583,073 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0126,773,752 - 26,783,849 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0129,191,170 - 29,201,257 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl129,191,192 - 29,201,531 (+)Ensemblrn6Rnor6.0
Rnor_5.0130,633,675 - 30,643,762 (+)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.4127,505,117 - 27,515,204 (+)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera125,500,527 - 25,510,614 (+)NCBICelera
RGSC_v3.1127,516,255 - 27,516,788 (+)NCBI
Cytogenetic Map1p11NCBI
Hey2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554367,060,930 - 7,070,030 (+)Ensembl
ChiLan1.0NW_0049554367,060,930 - 7,070,610 (+)NCBIChiLan1.0ChiLan1.0
HEY2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v25145,733,083 - 145,744,698 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan16143,638,233 - 143,649,847 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v06123,527,180 - 123,538,794 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.16127,647,547 - 127,659,056 (+)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl6127,647,547 - 127,659,056 (+)EnsemblpanPan2panpan1.1
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 (+)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.0164,840,402 - 64,850,338 (+)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl164,839,247 - 64,850,338 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1164,769,017 - 64,778,950 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0164,556,353 - 64,566,279 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0165,207,272 - 65,217,212 (+)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Hey2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404946114,704,470 - 114,715,205 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366393,703,447 - 3,716,820 (-)EnsemblSpeTri2.0 Ensembl
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 (-)EnsemblsusScr11Sscrofa11.1
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 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1347,964,847 - 47,977,346 (-)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_02366604020,275,597 - 20,288,250 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Hey2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624753375,279 - 384,379 (+)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_004624753375,163 - 394,402 (+)NCBIHetGla 1.0HetGla 1.0hetGla2

Variants

.
Variants in HEY2
41 total Variants

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
NM_012259.3(HEY2):c.55G>A (p.Asp19Asn) single nucleotide variant not specified [RCV004299435] Chr6:125749831 [GRCh38]
Chr6:126070977 [GRCh37]
Chr6:6q22.31		 uncertain significance
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
Single allele deletion Interstitial 6q microdeletion syndrome [RCV002280353] Chr6:115941808..133892653 [GRCh38]
Chr6:6q22.1-23.2		 pathogenic
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
NM_012259.3(HEY2):c.13T>A (p.Cys5Ser) single nucleotide variant not specified [RCV004308643] Chr6:125749789 [GRCh38]
Chr6:126070935 [GRCh37]
Chr6:6q22.31		 uncertain significance
GRCh37/hg19 6q22.31-22.33(chr6:120059951-130033233)x1 copy number loss not provided [RCV002472894] Chr6:120059951..130033233 [GRCh37]
Chr6:6q22.31-22.33		 uncertain significance
NM_012259.3(HEY2):c.987C>T (p.Pro329=) single nucleotide variant not provided [RCV004597609] Chr6:125759775 [GRCh38]
Chr6:126080921 [GRCh37]
Chr6:6q22.31		 likely benign
NM_012259.3(HEY2):c.514T>C (p.Ser172Pro) single nucleotide variant not specified [RCV004235944] Chr6:125759302 [GRCh38]
Chr6:126080448 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_012259.3(HEY2):c.671C>T (p.Ser224Phe) single nucleotide variant not specified [RCV004157723] Chr6:125759459 [GRCh38]
Chr6:126080605 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_012259.3(HEY2):c.536C>T (p.Pro179Leu) single nucleotide variant not specified [RCV004203150] Chr6:125759324 [GRCh38]
Chr6:126080470 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_012259.3(HEY2):c.40A>G (p.Met14Val) single nucleotide variant not specified [RCV004101903] Chr6:125749816 [GRCh38]
Chr6:126070962 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_012259.3(HEY2):c.965C>A (p.Thr322Lys) single nucleotide variant not specified [RCV004204526] Chr6:125759753 [GRCh38]
Chr6:126080899 [GRCh37]
Chr6:6q22.31		 uncertain significance
GRCh37/hg19 6q22.31(chr6:119243634-126078530)x1 copy number loss not provided [RCV002509028] Chr6:119243634..126078530 [GRCh37]
Chr6:6q22.31		 not provided
NM_012259.3(HEY2):c.454C>T (p.Arg152Trp) single nucleotide variant not specified [RCV004159717] Chr6:125759242 [GRCh38]
Chr6:126080388 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_012259.3(HEY2):c.235T>C (p.Phe79Leu) single nucleotide variant not specified [RCV004147177] Chr6:125752079 [GRCh38]
Chr6:126073225 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_012259.3(HEY2):c.29C>T (p.Ser10Phe) single nucleotide variant not specified [RCV004177360] Chr6:125749805 [GRCh38]
Chr6:126070951 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_012259.3(HEY2):c.5A>T (p.Lys2Met) single nucleotide variant not specified [RCV004076978] Chr6:125749781 [GRCh38]
Chr6:126070927 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_012259.3(HEY2):c.700G>C (p.Ala234Pro) single nucleotide variant not specified [RCV004269985] Chr6:125759488 [GRCh38]
Chr6:126080634 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_012259.3(HEY2):c.731G>C (p.Gly244Ala) single nucleotide variant not specified [RCV004259155] Chr6:125759519 [GRCh38]
Chr6:126080665 [GRCh37]
Chr6:6q22.31		 uncertain significance
GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1 copy number loss Intellectual disability, autosomal dominant 55, with seizures [RCV003327704] Chr6:113857248..130442177 [GRCh38]
Chr6:6q21-23.1		 pathogenic
NM_012259.3(HEY2):c.874A>G (p.Asn292Asp) single nucleotide variant not specified [RCV004336756] Chr6:125759662 [GRCh38]
Chr6:126080808 [GRCh37]
Chr6:6q22.31		 uncertain significance
GRCh37/hg19 6q22.31-23.3(chr6:120218852-137160850)x1 copy number loss not provided [RCV003482930] Chr6:120218852..137160850 [GRCh37]
Chr6:6q22.31-23.3		 pathogenic
NM_012259.3(HEY2):c.63del (p.Ser22fs) deletion not provided [RCV003487900] Chr6:125749836 [GRCh38]
Chr6:126070982 [GRCh37]
Chr6:6q22.31		 uncertain significance
GRCh37/hg19 6q22.31-22.33(chr6:124515654-130227224)x1 copy number loss not specified [RCV003986658] Chr6:124515654..130227224 [GRCh37]
Chr6:6q22.31-22.33		 uncertain significance
GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3 copy number gain not specified [RCV003986631] Chr6:119840686..156623091 [GRCh37]
Chr6:6q22.31-25.3		 pathogenic
GRCh37/hg19 6q21-23.2(chr6:110546061-131896074)x3 copy number gain not specified [RCV003986625] Chr6:110546061..131896074 [GRCh37]
Chr6:6q21-23.2		 likely pathogenic
NM_012259.3(HEY2):c.872C>A (p.Pro291Gln) single nucleotide variant not specified [RCV004396919] Chr6:125759660 [GRCh38]
Chr6:126080806 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_012259.3(HEY2):c.914C>T (p.Pro305Leu) single nucleotide variant not specified [RCV004396920] Chr6:125759702 [GRCh38]
Chr6:126080848 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_012259.3(HEY2):c.97T>C (p.Ser33Pro) single nucleotide variant not specified [RCV004396921] Chr6:125751814 [GRCh38]
Chr6:126072960 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_012259.3(HEY2):c.985C>T (p.Pro329Ser) single nucleotide variant not specified [RCV004396922] Chr6:125759773 [GRCh38]
Chr6:126080919 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_012259.3(HEY2):c.323G>A (p.Gly108Asp) single nucleotide variant not specified [RCV004396915] Chr6:125754541 [GRCh38]
Chr6:126075687 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_012259.3(HEY2):c.480C>G (p.Cys160Trp) single nucleotide variant not specified [RCV004396916] Chr6:125759268 [GRCh38]
Chr6:126080414 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_012259.3(HEY2):c.547C>T (p.His183Tyr) single nucleotide variant not specified [RCV004396917] Chr6:125759335 [GRCh38]
Chr6:126080481 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_012259.3(HEY2):c.622A>T (p.Thr208Ser) single nucleotide variant not specified [RCV004396918] Chr6:125759410 [GRCh38]
Chr6:126080556 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_012259.3(HEY2):c.559G>A (p.Ala187Thr) single nucleotide variant not specified [RCV004630527] Chr6:125759347 [GRCh38]
Chr6:126080493 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_012259.3(HEY2):c.898G>A (p.Ala300Thr) single nucleotide variant not specified [RCV004630526] Chr6:125759686 [GRCh38]
Chr6:126080832 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_012259.3(HEY2):c.728C>A (p.Thr243Lys) single nucleotide variant not specified [RCV004630525] Chr6:125759516 [GRCh38]
Chr6:126080662 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_012259.3(HEY2):c.82G>C (p.Gly28Arg) single nucleotide variant not specified [RCV004630524] Chr6:125749858 [GRCh38]
Chr6:126071004 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_012259.3(HEY2):c.664C>T (p.His222Tyr) single nucleotide variant not specified [RCV004630523] Chr6:125759452 [GRCh38]
Chr6:126080598 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_012259.3(HEY2):c.91A>G (p.Thr31Ala) single nucleotide variant not specified [RCV004630522] Chr6:125751808 [GRCh38]
Chr6:126072954 [GRCh37]
Chr6:6q22.31		 uncertain significance
GRCh37/hg19 6q22.31-23.2(chr6:120290547-131239690)x1 copy number loss not provided [RCV004819288] Chr6:120290547..131239690 [GRCh37]
Chr6:6q22.31-23.2		 likely pathogenic
NM_012259.3(HEY2):c.509C>T (p.Thr170Ile) single nucleotide variant not specified [RCV004925868] Chr6:125759297 [GRCh38]
Chr6:126080443 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_012259.3(HEY2):c.608A>C (p.His203Pro) single nucleotide variant not specified [RCV004925871] Chr6:125759396 [GRCh38]
Chr6:126080542 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_012259.3(HEY2):c.500C>T (p.Ala167Val) single nucleotide variant not specified [RCV004925867] Chr6:125759288 [GRCh38]
Chr6:126080434 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_012259.3(HEY2):c.875A>T (p.Asn292Ile) single nucleotide variant not specified [RCV004925870] Chr6:125759663 [GRCh38]
Chr6:126080809 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_012259.3(HEY2):c.449G>C (p.Arg150Pro) single nucleotide variant not specified [RCV004925869] Chr6:125759237 [GRCh38]
Chr6:126080383 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_012259.3(HEY2):c.466C>T (p.His156Tyr) single nucleotide variant not specified [RCV005351803] Chr6:125759254 [GRCh38]
Chr6:126080400 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_012259.3(HEY2):c.171G>C (p.Glu57Asp) single nucleotide variant Tetralogy of Fallot [RCV005255542] Chr6:125752015 [GRCh38]
Chr6:126073161 [GRCh37]
Chr6:6q22.31		 pathogenic
miRNA Target Status (No longer updated)

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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597619111GWAS1675971_Hbody weight QTL GWAS1675971 (human)5e-16body mass (VT:0001259)body weight (CMO:0000012)6125749643125749644Human
597618341GWAS1675201_Hbody weight QTL GWAS1675201 (human)1e-15body mass (VT:0001259)body weight (CMO:0000012)6125749643125749644Human
597141228GWAS1237302_Hneuroimaging measurement QTL GWAS1237302 (human)4e-40nervous system morphology trait (VT:0003632)6125749643125749644Human
597287124GWAS1383198_Hbody weight QTL GWAS1383198 (human)8e-19body mass (VT:0001259)body weight (CMO:0000012)6125750429125750430Human

Markers in Region
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


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2381 2788 2242 4918 1714 2304 3 618 1660 460 2261 6937 6163 40 3683 828 1708 1577 167

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
  XM_054354945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054354946 (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

Ensembl Acc Id: ENST00000368364   ⟹   ENSP00000357348
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6125,749,632 - 125,761,269 (+)Ensembl
Ensembl Acc Id: ENST00000368365   ⟹   ENSP00000357349
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 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
T2T-CHM13v2.06126,938,147 - 126,949,784 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017010627   ⟹   XP_016866116
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386125,749,870 - 125,761,269 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017010628   ⟹   XP_016866117
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386125,749,632 - 125,761,269 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054354945   ⟹   XP_054210920
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06126,938,385 - 126,949,784 (+)NCBI
RefSeq Acc Id: XM_054354946   ⟹   XP_054210921
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06126,938,147 - 126,949,784 (+)NCBI
RefSeq Acc Id: NP_036391   ⟸   NM_012259
- UniProtKB: Q9UBP5 (UniProtKB/Swiss-Prot),   A8K1M8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016866117   ⟸   XM_017010628
- Peptide Label: isoform X1
- UniProtKB: Q5TF93 (UniProtKB/TrEMBL),   B4E1L3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016866116   ⟸   XM_017010627
- Peptide Label: isoform X1
- UniProtKB: Q5TF93 (UniProtKB/TrEMBL),   B4E1L3 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000357349   ⟸   ENST00000368365
Ensembl Acc Id: ENSP00000357348   ⟸   ENST00000368364
RefSeq Acc Id: XP_054210921   ⟸   XM_054354946
- Peptide Label: isoform X1
- UniProtKB: Q5TF93 (UniProtKB/TrEMBL),   B4E1L3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054210920   ⟸   XM_054354945
- Peptide Label: isoform X1
- UniProtKB: Q5TF93 (UniProtKB/TrEMBL),   B4E1L3 (UniProtKB/TrEMBL)
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

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4881 AgrOrtholog
COSMIC HEY2 COSMIC
Ensembl Genes ENSG00000135547 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000368364 ENTREZGENE
  ENST00000368364.4 UniProtKB/Swiss-Prot
  ENST00000368365 ENTREZGENE
Gene3D-CATH 4.10.280.10 UniProtKB/Swiss-Prot
  6.10.250.980 UniProtKB/Swiss-Prot
GTEx ENSG00000135547 GTEx
HGNC ID HGNC:4881 ENTREZGENE
Human Proteome Map HEY2 Human Proteome Map
InterPro bHLH_dom UniProtKB/Swiss-Prot
  HES_HEY UniProtKB/Swiss-Prot
  HLH_DNA-bd_sf UniProtKB/Swiss-Prot
  Orange_dom UniProtKB/Swiss-Prot
KEGG Report hsa:23493 UniProtKB/Swiss-Prot
NCBI Gene 23493 ENTREZGENE
OMIM 604674 OMIM
PANTHER BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTOR, HES-RELATED UniProtKB/Swiss-Prot
Pfam Hairy_orange UniProtKB/Swiss-Prot
  HLH UniProtKB/Swiss-Prot
PharmGKB PA29259 PharmGKB
PROSITE BHLH UniProtKB/Swiss-Prot
  ORANGE UniProtKB/Swiss-Prot
SMART HLH UniProtKB/Swiss-Prot
  ORANGE UniProtKB/Swiss-Prot
Superfamily-SCOP Orange domain-like UniProtKB/Swiss-Prot
  SSF47459 UniProtKB/Swiss-Prot
UniProt A8K1M8 ENTREZGENE, UniProtKB/TrEMBL
  B4E1L3 ENTREZGENE, UniProtKB/TrEMBL
  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  HEY2  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  HEY2  hairy/enhancer-of-split related with YRPW motif 2  Symbol and/or name change 5135510 APPROVED