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Homeodomain proteins are sequence-specific transcription factors that share a highly conserved DNA-binding domain and play fundamental roles in cell proliferation, differentiation, and death. PKNOX2 belongs to the TALE (3-amino acid loop extension) class of homeodomain proteins characterized by a 3-amino acid extension between alpha helices 1 and 2 within the homeodomain (Imoto et al., 2001 [PubMed 11549286]).[supplied by OMIM, Oct 2009]
PKNOX2 (PBX/Knotted 1 Homeobox 2) is a Protein Coding gene. Diseases associated with PKNOX2 include Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A and Brugada Syndrome 2. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding and actin monomer binding. An important paralog of this gene is PKNOX1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IEA | -- |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0003677 | DNA binding | IEA | -- |
GO:0003785 | actin monomer binding | IEA | -- |
GO:0043565 | sequence-specific DNA binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0015629 | actin cytoskeleton | IEA | -- |
GO:0015630 | microtubule cytoskeleton | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006357 | regulation of transcription by RNA polymerase II | IEA | -- |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9a | · | 9b | · | 9c | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | ^ | 14 | ^ | 15 | ^ | 16 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PKNOX2 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | PKNOX2 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PKNOX2 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Pknox2 30 |
|
||
Cow (Bos Taurus) |
Mammalia | PKNOX2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Pknox2 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PKNOX2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PREP2 31 |
|
OneToOne | |
PKNOX2 30 |
|
||||
Lizard (Anolis carolinensis) |
Reptilia | PKNOX2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pknox2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | pknox2 30 31 |
|
OneToOne | |
wuft92g05 30 |
|
||||
Worm (Caenorhabditis elegans) |
Secernentea | unc-62 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.3767 30 |
|
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs34936365 | - | p.Glu110Lys |