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This gene encodes a member of the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcription factors. The encoded protein forms homo- or hetero-dimers that localize to the nucleus and interact with a histone deacetylase complex to repress transcription. Expression of this gene is induced by the Notch signal transduction pathway. Two similar and redundant genes in mouse are required for embryonic cardiovascular development, and are also implicated in neurogenesis and somitogenesis. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
HEY2 (Hes Related Family BHLH Transcription Factor With YRPW Motif 2) is a Protein Coding gene. Diseases associated with HEY2 include Tricuspid Atresia and Chronic Apical Periodontitis. Among its related pathways are Signaling by GPCR and Heart Development. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription factor binding. An important paralog of this gene is HEY1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IBA | 21873635 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | IDA,ISM | 19274049 |
GO:0001102 | RNA polymerase II activating transcription factor binding | IPI | 16293227 |
GO:0001227 | DNA-binding transcription repressor activity, RNA polymerase II-specific | IEA,ISS | -- |
GO:0003677 | DNA binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IBA,ISS | -- |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005737 | cytoplasm | IEA,ISS | -- |
GO:0016580 | colocalizes_with Sin3 complex | IDA | 11486045 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Signaling by NOTCH1 | ||
2 | Notch Signaling Pathway (WikiPathways) | ||
3 | HIV Life Cycle |
.45
|
|
4 | Gastric cancer |
.62
|
|
5 | PI3K-Akt signaling pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA,IMP | 11486045 |
GO:0001568 | blood vessel development | IEA | -- |
GO:0001570 | vasculogenesis | IEA,ISS | -- |
GO:0003150 | muscular septum morphogenesis | IEA,ISS | -- |
GO:0003151 | outflow tract morphogenesis | IEA,ISS | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | HEY2 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | HEY2 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | HEY2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | HEY2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Hey2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Hey2 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | HEY2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | LOC100858839 30 |
|
||
Lizard (Anolis carolinensis) |
Reptilia | HEY2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | hey2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | hey2 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Hey 31 32 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
708201 | Likely Benign: not provided | 125,759,677(+) | G/A | MISSENSE_VARIANT | |
778251 | Benign: not provided | 125,752,066(+) | T/G | SYNONYMOUS_VARIANT | |
790587 | Benign: not provided | 125,752,098(+) | A/T | INTRON_VARIANT | |
rs3734638 | - | p.Val140Met | |||
rs747221103 | - | p.Thr96Ala |
Disorder | Aliases | PubMed IDs |
---|---|---|
tricuspid atresia |
|
|
chronic apical periodontitis |
|
|
tricuspid valve stenosis |
|
|
aortic valve disease 1 |
|
|
proctitis |
|
|