Q9QUS4 · HEY2_MOUSE
- ProteinHairy/enhancer-of-split related with YRPW motif protein 2
- GeneHey2
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids339 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Transcriptional repressor which functions as a downstream effector of Notch signaling in cardiovascular development. Specifically required for the Notch-induced endocardial epithelial to mesenchymal transition, which is itself criticial for cardiac valve and septum development. May be required in conjunction with HEY1 to specify arterial cell fate or identity. Promotes maintenance of neuronal precursor cells and glial versus neuronal fate specification. Binds preferentially to the canonical E box sequence 5'-CACGTG-3'. Represses transcription by the cardiac transcriptional activators GATA4 and GATA6 and by the neuronal bHLH factors ASCL1/MASH1 and NEUROD4/MATH3.
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Keywords
- Molecular function
- Biological process
Names & Taxonomy
Protein names
- Recommended nameHairy/enhancer-of-split related with YRPW motif protein 2
- Alternative names
Gene names
Organism names
- Organism
- Strain
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Glires > Rodentia > Myomorpha > Muroidea > Muridae > Murinae > Mus > Mus
Accessions
- Primary accessionQ9QUS4
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Phenotypes & Variants
Disruption phenotype
Mice display a spectrum of cardiac malformations including ventricular septal defects, tetralogy of Fallot and tricuspid atresia. The penetrance of the cardiac malformation phenotype varies according to the strain, suggesting the presence of modifier genes.
Features
Showing features for mutagenesis.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Mutagenesis | 33-37 | Abrogates interaction with GATA4 and repression of GATA4-mediated transcription. | ||||
Sequence: Missing | ||||||
Mutagenesis | 49-61 | Abrogates DNA-binding and transcriptional repression. | ||||
Sequence: RKKRRGIIEKRRR → LE |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 10 variants from UniProt as well as other sources including ClinVar and dbSNP.
PTM/Processing
Features
Showing features for chain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000245516 | 1-339 | Hairy/enhancer-of-split related with YRPW motif protein 2 | |||
Sequence: MKRPCEETTSESDLDETIDVGSENNYPGHATSSVMRSNSPTTTSQIMARKKRRGIIEKRRRDRINNSLSELRRLVPTAFEKQGSAKLEKAEILQMTVDHLKMLQATGGKGYFDAHALATDFMSIGFRECLTEVARYLSSVEGLDPSDPLRVRLVSHLSTCASQREAAVMTSSMAHHHHPLHPHHWAAAFHHLPTALLQPNGLHTSESTPCRLSTSSEVPSAHGSALLTATFAHADSALRMPSGGTVAPCVPPLSTSLLSLSATVHAAAAAATAAAHSFPLSFAGAFPMLPSNAAAAAAVAAATAISPPLSVSAASSPQQTSTGTNNKPYQPWGTEVGAF |
Proteomic databases
PTM databases
Expression
Tissue specificity
Highly expressed in the aorta, lower expression detected in the heart, brain, kidney, lung, muscle, ovary and testis.
Induction
By activation of the Notch signaling pathway.
Developmental stage
Expressed in the developing somites and the ventricles of the heart. Expressed in the otic vesicles between 8.5 dpc and 10.5 dpc. Expressed in the myocardium of the ventricles at 9.5 dpc and in the atrioventricular cushions from 9.5 to 12.5 dpc. At 10.5 dpc, strongly expressed in the spinal nerves, the cranial ganglia and the telencephalon. At 11.5 dpc, expressed in the craniofacial region of the distal part of the maxillary arch, along the rostral mandibular arch and surrounding the lateral nasal processes. Expressed in the midbrain-hindbrain boundary and the posterior edge of the hand- and foot-paddle. Expressed in the mediodorsal region of the telencephalon and the ventricular zone of the ventral spinal cord at 12 dpc, then in the ventral region of the telencephalon and the cortical plate at 15 dpc. Expression in the heart is limited to the compact myocardial layer at 17.5 dpc. Also expressed in the developing retina up to P5, at which point expression decreases.
Gene expression databases
Structure
Family & Domains
Features
Showing features for region, compositional bias, domain, motif.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 1-52 | Disordered | ||||
Sequence: MKRPCEETTSESDLDETIDVGSENNYPGHATSSVMRSNSPTTTSQIMARKKR | ||||||
Compositional bias | 24-48 | Polar residues | ||||
Sequence: NNYPGHATSSVMRSNSPTTTSQIMA | ||||||
Region | 47-116 | Transcriptional repression and interaction with NCOR1 and SIN3A | ||||
Sequence: MARKKRRGIIEKRRRDRINNSLSELRRLVPTAFEKQGSAKLEKAEILQMTVDHLKMLQATGGKGYFDAHA | ||||||
Domain | 48-103 | bHLH | ||||
Sequence: ARKKRRGIIEKRRRDRINNSLSELRRLVPTAFEKQGSAKLEKAEILQMTVDHLKML | ||||||
Domain | 122-157 | Orange | ||||
Sequence: MSIGFRECLTEVARYLSSVEGLDPSDPLRVRLVSHL | ||||||
Compositional bias | 310-331 | Polar residues | ||||
Sequence: SVSAASSPQQTSTGTNNKPYQP | ||||||
Region | 310-339 | Disordered | ||||
Sequence: SVSAASSPQQTSTGTNNKPYQPWGTEVGAF | ||||||
Motif | 329-332 | YQPW motif | ||||
Sequence: YQPW |
Sequence similarities
Belongs to the HEY family.
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusComplete
- Length339
- Mass (Da)35,873
- Last updated2000-05-01 v1
- Checksum105BEEA06DE50444
Features
Showing features for sequence conflict, compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Sequence conflict | 7 | in Ref. 6; BAC27428 | ||||
Sequence: E → K | ||||||
Compositional bias | 24-48 | Polar residues | ||||
Sequence: NNYPGHATSSVMRSNSPTTTSQIMA | ||||||
Sequence conflict | 284 | in Ref. 6; BAE34310 | ||||
Sequence: G → E | ||||||
Compositional bias | 310-331 | Polar residues | ||||
Sequence: SVSAASSPQQTSTGTNNKPYQP |
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AF172287 EMBL· GenBank· DDBJ | AAF14546.1 EMBL· GenBank· DDBJ | mRNA | ||
AJ271867 EMBL· GenBank· DDBJ | CAB71346.1 EMBL· GenBank· DDBJ | mRNA | ||
AF173902 EMBL· GenBank· DDBJ | AAF20174.1 EMBL· GenBank· DDBJ | mRNA | ||
AF232240 EMBL· GenBank· DDBJ | AAF37298.1 EMBL· GenBank· DDBJ | mRNA | ||
AB093589 EMBL· GenBank· DDBJ | BAC55066.1 EMBL· GenBank· DDBJ | mRNA | ||
AK031506 EMBL· GenBank· DDBJ | BAC27428.1 EMBL· GenBank· DDBJ | mRNA | ||
AK158000 EMBL· GenBank· DDBJ | BAE34310.1 EMBL· GenBank· DDBJ | mRNA | ||
BC103575 EMBL· GenBank· DDBJ | AAI03576.1 EMBL· GenBank· DDBJ | mRNA | ||
BC103576 EMBL· GenBank· DDBJ | AAI03577.1 EMBL· GenBank· DDBJ | mRNA |