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This gene encodes a member of a family of basic helix-loop-helix transcriptional repressors. The protein product of this gene, which is activated downstream of the Notch pathway, regulates cell differentiation in multiple tissues. Disruptions in the normal expression of this gene have been associated with developmental diseases and cancer. [provided by RefSeq, Dec 2008]
HES5 (Hes Family BHLH Transcription Factor 5) is a Protein Coding gene. Diseases associated with HES5 include Large Intestine Adenoma and Chromosome 1P36 Deletion Syndrome. Among its related pathways are Signaling by GPCR and Neural Crest Differentiation. Gene Ontology (GO) annotations related to this gene include chromatin binding and protein dimerization activity. An important paralog of this gene is HES4.
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 | ISM | 19274049 |
GO:0001227 | DNA-binding transcription repressor activity, RNA polymerase II-specific | IEA,ISS | -- |
GO:0003677 | DNA binding | IEA | -- |
GO:0003682 | chromatin binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005575 | cellular_component | ND | -- |
GO:0005634 | nucleus | IBA | 21873635 |
GO:0005654 | nucleoplasm | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Signaling by NOTCH1 | ||
2 | Notch Signaling Pathway (WikiPathways) | ||
3 | HIV Life Cycle |
.45
|
|
4 | NOTCH2 Activation and Transmission of Signal to the Nucleus | ||
5 | Gastric cancer |
.62
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA,ISS | -- |
GO:0002062 | NOT chondrocyte differentiation | ISS | -- |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0007155 | cell adhesion | IEA,ISS | -- |
GO:0007219 | Notch signaling pathway | IEA,TAS | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Dog (Canis familiaris) |
Mammalia | HES5 30 31 |
|
OneToOne | |
Chimpanzee (Pan troglodytes) |
Mammalia | HES5 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | HES5 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Hes5 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Hes5 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | HES5 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | HES5 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | HES5 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | hes5.1 30 |
|
||
Str.11260 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | MGC53782 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | LOC100149066 30 |
|
||
her2 31 |
|
OneToOne | |||
hes5 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Her 31 |
|
OneToMany | |
E(spl) 31 |
|
OneToMany | |||
HLHmbeta 31 |
|
OneToMany | |||
HLHmdelta 31 |
|
OneToMany | |||
HLHm7 31 |
|
OneToMany | |||
HLHmgamma 31 |
|
OneToMany | |||
HLHm5 31 |
|
OneToMany | |||
HLHm3 31 |
|
OneToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | lin-22 31 |
|
OneToOne |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1 | OTHER | inversion | 15895083 |
nsv470684 | CNV | loss | 18288195 |
nsv545076 | CNV | gain | 21841781 |
nsv545077 | CNV | gain | 21841781 |
nsv545080 | CNV | loss | 21841781 |
nsv7171 | OTHER | inversion | 18451855 |
nsv818222 | CNV | loss | 17921354 |
nsv823920 | CNV | gain | 20364138 |
nsv824031 | CNV | gain | 20364138 |
nsv951557 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
large intestine adenoma |
|
|
chromosome 1p36 deletion syndrome |
|
|