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)
End	125,433,389 bp
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)
End	37,058,703 bp
RNA expression pattern
	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
	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
	63876
	208076
	ENSG00000165495
	ENSMUSG00000035934
	Q96KN3
	Q8BG99
	NM_022062
	NM_001029838; NM_148950
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
	Wikidata
View/Edit Human	View/Edit Mouse

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]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000165495 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000035934 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Imoto I, Sonoda I, Yuki Y, Inazawa J (September 2001). "Identification and characterization of human PKNOX2, a novel homeobox-containing gene". Biochemical and Biophysical Research Communications. 287 (1): 270–6. doi:10.1006/bbrc.2001.5578. PMID 11549286.
^ Fognani C, Kilstrup-Nielsen C, Berthelsen J, Ferretti E, Zappavigna V, Blasi F (May 2002). "Characterization of PREP2, a paralog of PREP1, which defines a novel sub-family of the MEINOX TALE homeodomain transcription factors". Nucleic Acids Research. 30 (9): 2043–51. doi:10.1093/nar/30.9.2043. PMC 113854. PMID 11972344.
^ ^a ^b "PKNOX2 PBX/knotted 1 homeobox 2 - Gene - GTR - NCBI". www.ncbi.nlm.nih.gov. National Center for Biotechnology Information. Retrieved 31 August 2020. 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 This article incorporates text from this source, which is in the public domain.
^ Iwata BA, Dozier CL (2008). "Clinical application of functional analysis methodology". Behavior Analysis in Practice. 1 (1): 3–9. doi:10.1007/BF03391714. PMC 2846577. PMID 22477673.
^ Zuo L, Lu L, Tan Y, Pan X, Cai Y, Wang X, Hong J, Zhong C, Wang F, Zhang XY, Vanderlinden LA, Tabakoff B, Luo X (2014). "Genome-wide association discoveries of alcohol dependence". The American Journal on Addictions. 23 (6): 526–39. doi:10.1111/j.1521-0391.2014.12147.x. PMC 4187224. PMID 25278008.

This article on a gene on human chromosome 11 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000165495 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000035934 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid11549286-5] Imoto I, Sonoda I, Yuki Y, Inazawa J (September 2001). "Identification and characterization of human PKNOX2, a novel homeobox-containing gene". Biochemical and Biophysical Research Communications. 287 (1): 270–6. doi:10.1006/bbrc.2001.5578. PMID 11549286.

[pmid11972344-6] Fognani C, Kilstrup-Nielsen C, Berthelsen J, Ferretti E, Zappavigna V, Blasi F (May 2002). "Characterization of PREP2, a paralog of PREP1, which defines a novel sub-family of the MEINOX TALE homeodomain transcription factors". Nucleic Acids Research. 30 (9): 2043–51. doi:10.1093/nar/30.9.2043. PMC 113854. PMID 11972344.

[AutoMO-1-7] "PKNOX2 PBX/knotted 1 homeobox 2 - Gene - GTR - NCBI". www.ncbi.nlm.nih.gov. National Center for Biotechnology Information. Retrieved 31 August 2020. 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 This article incorporates text from this source, which is in the public domain.

[pmid22477673-8] Iwata BA, Dozier CL (2008). "Clinical application of functional analysis methodology". Behavior Analysis in Practice. 1 (1): 3–9. doi:10.1007/BF03391714. PMC 2846577. PMID 22477673.

[pmid25278008-9] Zuo L, Lu L, Tan Y, Pan X, Cai Y, Wang X, Hong J, Zhong C, Wang F, Zhang XY, Vanderlinden LA, Tabakoff B, Luo X (2014). "Genome-wide association discoveries of alcohol dependence". The American Journal on Addictions. 23 (6): 526–39. doi:10.1111/j.1521-0391.2014.12147.x. PMC 4187224. PMID 25278008.

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Function

Structure

Clinical significance

See also

References