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This gene encodes a protein which contains three CUT domains and a homeodomain; both domains are DNA-binding motifs. A similar gene, whose gene product possesses different DNA-binding activities, is located on chromosome on chromosome 7. Two pseudogenes of this gene have been identified on chromosomes 10 and 4. [provided by RefSeq, Jan 2013]
CUX2 (Cut Like Homeobox 2) is a Protein Coding gene. Diseases associated with CUX2 include Epileptic Encephalopathy, Early Infantile, 67 and Lennox-Gastaut Syndrome. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding and RNA polymerase II regulatory region sequence-specific DNA binding. An important paralog of this gene is CUX1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IEA,ISS | -- |
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IEA | -- |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | NAS | 19274049 |
GO:0001227 | DNA-binding transcription repressor activity, RNA polymerase II-specific | IEA | -- |
GO:0003677 | DNA binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | IBA | 21873635 |
GO:0005634 | nucleus | IDA,IBA | 15656993 |
GO:0070062 | extracellular exosome | HDA | 19056867 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IDA | 15656993 |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0007614 | short-term memory | ISS,IEA | -- |
GO:0010628 | positive regulation of gene expression | ISS,IEA | -- |
GO:0045892 | negative regulation of transcription, DNA-templated | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Rifampicin | Approved | Pharma | Agonist, Inhibition, Inhibitor | Pregnane X receptor agonist; antibiotic | 437 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | CUX2 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | CUX2 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | CUX2 33 32 |
|
OneToOne | |
rat (Rattus norvegicus) |
Mammalia | Cux2 32 |
|
||
mouse (Mus musculus) |
Mammalia | Cux2 17 33 32 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | CUX2 33 |
|
OneToOne | |
oppossum (Monodelphis domestica) |
Mammalia | CUX2 33 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | CUX2 33 32 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | CUX2 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | cux2 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | cux2 32 |
|
||
cux2b 33 |
|
OneToOne | |||
fruit fly (Drosophila melanogaster) |
Insecta | ct 33 |
|
OneToMany | |
worm (Caenorhabditis elegans) |
Secernentea | ceh-44 33 |
|
OneToMany |
SNP ID | Clin | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1565909334 | likely-pathogenic, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67 | 111,310,550(+) | G/A | coding_sequence_variant, missense_variant | |
VAR_081600 | Epileptic encephalopathy, early infantile, 67 (EIEE67) [MIM:618141] | p.Glu590Lys | |||
rs1000003475 | -- | 111,224,117(+) | A/C/G | intron_variant | |
rs1000014126 | -- | 111,309,599(+) | T/C | intron_variant | |
rs1000016037 | -- | 111,249,913(+) | A/G/T | intron_variant |
Disorder | Aliases | PubMed IDs |
---|---|---|
epileptic encephalopathy, early infantile, 67 |
|
|
lennox-gastaut syndrome |
|
|
fiedler's myocarditis |
|
|
alcohol-related neurodevelopmental disorder |
|
|
periventricular nodular heterotopia |
|
|