PKNOX2

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
Identifiers
AliasesPKNOX2, PREP2, PBX/knotted 1 homeobox 2
External IDsOMIM: 613066 MGI: 2445415 HomoloGene: 32527 GeneCards: PKNOX2
Orthologs
SpeciesHumanMouse
Entrez

63876

208076

Ensembl

ENSG00000165495

ENSMUSG00000035934

UniProt

Q96KN3

Q8BG99

RefSeq (mRNA)

NM_022062

NM_001029838
NM_148950

RefSeq (protein)

NP_001025009
NP_683752

Location (UCSC)Chr 11: 125.16 – 125.43 MbChr 9: 36.8 – 37.06 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

References
  1. GRCh38: Ensembl release 89: ENSG00000165495 - Ensembl, May 2017
  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.
  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.
  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.
  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 homeodomainPublic Domain This article incorporates text from this source, which is in the public domain.
  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.
  9. Zuo L, Lu L, Tan Y, Pan X, Cai Y, Wang X, et al. (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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