Protein-coding gene in the species Homo sapiens
PKNOX2 |
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Identifiers |
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Aliases | PKNOX2, PREP2, PBX/knotted 1 homeobox 2 |
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External IDs | OMIM: 613066; MGI: 2445415; HomoloGene: 32527; GeneCards: PKNOX2; OMA:PKNOX2 - orthologs |
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Gene location (Human) |
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| Chr. | Chromosome 11 (human)[1] |
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| Band | 11q24.2 | Start | 125,164,687 bp[1] |
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End | 125,433,389 bp[1] |
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Gene location (Mouse) |
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| Chr. | Chromosome 9 (mouse)[2] |
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| Band | 9|9 A4 | Start | 36,802,278 bp[2] |
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End | 37,058,703 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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Top expressed in | - retinal pigment epithelium
- sural nerve
- right frontal lobe
- primary visual cortex
- prefrontal cortex
- cartilage tissue
- dorsolateral prefrontal cortex
- Brodmann area 9
- Brodmann area 23
- superior frontal gyrus
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| Top expressed in | - muscle of thigh
- tail of embryo
- gastrula
- Gonadal ridge
- dentate gyrus of hippocampal formation granule cell
- piriform cortex
- superior frontal gyrus
- lumbar spinal ganglion
- skeletal muscle tissue
- primary visual cortex
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| More reference expression data |
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BioGPS | |
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Gene ontology |
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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 |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | | |
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RefSeq (protein) | NP_001369252 NP_001369253 NP_001369254 NP_001369255 NP_001369256
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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 |
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Location (UCSC) | Chr 11: 125.16 – 125.43 Mb | Chr 9: 36.8 – 37.06 Mb |
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PubMed search | [3] | [4] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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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
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.
(1) Basic domains |
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(1.1) Basic leucine zipper (bZIP) | |
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(1.2) Basic helix-loop-helix (bHLH) | Group A | |
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Group B | |
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Group C bHLH-PAS | |
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Group D | |
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Group E | |
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Group F bHLH-COE | |
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(1.3) bHLH-ZIP | |
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(1.4) NF-1 | |
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(1.5) RF-X | |
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(1.6) Basic helix-span-helix (bHSH) | |
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(2) Zinc finger DNA-binding domains |
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(2.1) Nuclear receptor (Cys4) | subfamily 1 | |
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subfamily 2 | |
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subfamily 3 | |
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subfamily 4 | |
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subfamily 5 | |
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subfamily 6 | |
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subfamily 0 | |
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(2.2) Other Cys4 | |
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(2.3) Cys2His2 | |
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(2.4) Cys6 | |
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(2.5) Alternating composition | |
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(2.6) WRKY | |
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(4) β-Scaffold factors with minor groove contacts |
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(0) Other transcription factors |
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see also transcription factor/coregulator deficiencies |
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