PKNOX2

PKNOX2
Identifiers
Aliases	PKNOX2, PREP2, PBX/knotted 1 homeobox 2
External IDs	OMIM: 613066 MGI: 2445415 HomoloGene: 32527 GeneCards: PKNOX2
Gene location (Human) Chr. Chromosome 11 (human)[1] Band 11q24.2 Start 125,164,687 bp[1] End 125,433,389 bp[1]
Gene location (Mouse) Chr. Chromosome 9 (mouse)[2] Band 9|9 A4 Start 36,802,278 bp[2] End 37,058,703 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in retinal pigment epithelium sural nerve prefrontal cortex dorsolateral prefrontal cortex Brodmann area 9 Brodmann area 23 superior frontal gyrus tibialis anterior muscle Brodmann area 46 middle temporal gyrus Top expressed in piriform cortex superior frontal gyrus skeletal muscle tissue triceps brachii muscle temporal muscle seminiferous tubule ankle primitive streak temporal lobe extraocular muscle More reference expression data BioGPS n/a
Gene ontology Molecular function DNA binding sequence-specific DNA binding actin filament binding actin monomer binding RNA polymerase II transcription regulatory region sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component cytoplasm microtubule cytoskeleton actin cytoskeleton nucleus nucleoplasm intercellular bridge Biological process regulation of transcription by RNA polymerase II regulation of transcription, DNA-templated Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 63876 208076 Ensembl ENSG00000165495 ENSMUSG00000035934 UniProt Q96KN3 Q8BG99 RefSeq (mRNA) NM_022062 NM_001029838 NM_148950 RefSeq (protein) NP_001369252 NP_001369253 NP_001369254 NP_001369255 NP_001369256 NP_001369257 NP_001369258 NP_001369259 NP_001369260 NP_001369261 NP_001369262 NP_001369263 NP_001369264 NP_001369265 NP_001369266 NP_001369267 NP_001369268 NP_001369269 NP_001369270 NP_001025009 NP_683752 Location (UCSC) Chr 11: 125.16 – 125.43 Mb Chr 9: 36.8 – 37.06 Mb PubMed search [3] [4]
Wikidata
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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]

Function

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.

Structure

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]

Clinical significance

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]

See also

• Homeobox
• Binding to specific DNA sequences
• Human PKNOX2 genome location and PKNOX2 gene details page in the UCSC Genome Browser.

References

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