| PKNOX2 | |||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | PKNOX2 , PREP2, PBX/knotted 1 homeobox 2 | ||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 613066 MGI: 2445415 HomoloGene: 32527 GeneCards: PKNOX2 | ||||||||||||||||||||||||||||||||||||||||||||||||
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PBX/Knotted 1 Homeobox 2 (PKNOX2) protein belongs to the three amino acid loop extension (TALE) class of homeodomain proteins, and is encoded by PKNOX2 gene in humans. The protein regulates the transcription of other genes and affects anatomical development. [5]
PKNOX2 protein regulates expression of other genes by binding to DNA in a sequence-specific manner, i.e. to specific DNA sequences. It binds to unique DNA recognition motifs, acting as a nuclear transcription factor. [6] The nuclear transcription factor is a protein that regulates transcription of genetic information from DNA to messenger RNA. Other functions of PKNOX2 include actin filament binding. An important paralog of the PKNOX2 gene is PKNOX1 .
PKNOX2 belongs to the three amino acid loop extension (TALE) class of homeodomain proteins. This class is characterized by a 3-amino acid extension between alpha helix 1 and 2 in the homeodomain. [7]
Homeodomain proteins are sequence-specific transcription factors that share a highly conserved DNA binding domain and play a crucial role in cell proliferation, differentiation and death. [7]
In a 2014 review article of the genome-wide association findings of alcohol dependence, the researchers concluded that based on functional analysis (demonstration of a cause-effect relation), [8] genetic variants related to the PKNOX2 gene may play a role in alcohol dependence risk, albeit a minor role comparing to the role played by the genes located in the alcohol dehydrogenase cluster. [9]
A homeobox is a DNA sequence, around 180 base pairs long, that regulates large-scale anatomical features in the early stages of embryonic development. Mutations in a homeobox may change large-scale anatomical features of the full-grown organism.
A DNA-binding domain (DBD) is an independently folded protein domain that contains at least one structural motif that recognizes double- or single-stranded DNA. A DBD can recognize a specific DNA sequence or have a general affinity to DNA. Some DNA-binding domains may also include nucleic acids in their folded structure.
Transcription factor 3, also known as TCF3, is a protein that in humans is encoded by the TCF3 gene. TCF3 has been shown to directly enhance Hes1 expression.
Pre-B-cell leukemia transcription factor 1 is a protein that in humans is encoded by the PBX1 gene. The homologous protein in Drosophila is known as extradenticle, and causes changes in embryonic development.
Homeobox protein Hox-B7 is a protein that in humans is encoded by the HOXB7 gene.
NK2 homeobox 1 (NKX2-1), also known as thyroid transcription factor 1 (TTF-1), is a protein which in humans is encoded by the NKX2-1 gene.
Homeobox protein TGIF1 is a protein that, in humans, is encoded by the TGIF1 gene. Alternative splicing has been observed at this locus and eight variants, encoding four distinct isoforms, are described.
Homeobox protein Meis1 is a protein that in humans is encoded by the MEIS1 gene.
Cone-rod homeobox protein is a protein that in humans is encoded by the CRX gene.
PBX/Knotted 1 Homeobox 1 (PKNOX1) is a protein that in humans is encoded by the PKNOX1 gene.
Homeobox protein Hox-B1 is a protein that in humans is encoded by the HOXB1 gene.
Homeobox protein Hox-B2 is a protein that in humans is encoded by the HOXB2 gene.
Homeobox protein Hox-C4 is a protein that in humans is encoded by the HOXC4 gene.
Homeobox protein Hox-A3 is a protein that in humans is encoded by the HOXA3 gene.
Paired related homeobox 1 is a protein that in humans is encoded by the PRRX1 gene.
Homeobox protein Meis2 is a protein that in humans is encoded by the MEIS2 gene.
Homeobox protein Nkx-2.3 is a protein that in humans is encoded by the NKX2-3 gene.
Double homeobox, 4 also known as DUX4 is a protein which in humans is encoded by the DUX4 gene. Its misexpression is the cause of facioscapulohumeral muscular dystrophy (FSHD).
Iroquois-class homeodomain protein IRX-1, also known as Iroquois homeobox protein 1, is a protein that in humans is encoded by the IRX1 gene. All members of the Iroquois (IRO) family of proteins share two highly conserved features, encoding both a homeodomain and a characteristic IRO sequence motif. Members of this family are known to play numerous roles in early embryo patterning. IRX1 has also been shown to act as a tumor suppressor gene in several forms of cancer.
Homeobox protein Mohawk, also known as iroquois homeobox protein-like 1, is a protein that in humans is encoded by the MKX gene. MKX is a member of an Iroquois (IRX) family-related class of 'three-amino acid loop extension' (TALE) atypical homeobox proteins characterized by 3 additional amino acids in the loop region between helix I and helix II of the homeodomain.
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
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