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PKNOX2

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens

PKNOX2
Identifiers
AliasesPKNOX2, PREP2, PBX/knotted 1 homeobox 2
External IDsOMIM:613066;MGI:2445415;HomoloGene:32527;GeneCards:PKNOX2;OMA:PKNOX2 - orthologs
Gene location (Human)
Chromosome 11 (human)
Chr.Chromosome 11 (human)[1]
Chromosome 11 (human)
Genomic location for PKNOX2
Genomic location for PKNOX2
Band11q24.2Start125,164,687bp[1]
End125,433,389bp[1]
Gene location (Mouse)
Chromosome 9 (mouse)
Chr.Chromosome 9 (mouse)[2]
Chromosome 9 (mouse)
Genomic location for PKNOX2
Genomic location for PKNOX2
Band9|9 A4Start36,802,278bp[2]
End37,058,703bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
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
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
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
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 MbChr 9: 36.8 – 37.06 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

PBX/Knotted 1 Homeobox 2 (PKNOX2) protein belongs to the three amino acid loop extension (TALE) class ofhomeodomain proteins, and is encoded byPKNOX2 gene in humans. The protein regulates the transcription of other genes and affects anatomical development.[5]

Function

[edit]

PKNOX2 protein regulates expression of other genes bybinding toDNA in a sequence-specific manner, i.e. to specific DNA sequences. It binds to unique DNA recognitionmotifs, acting as a nucleartranscription factor.[6] The nuclear transcription factor is a protein that regulatestranscription of genetic information fromDNA tomessenger RNA. Other functions of PKNOX2 includeactin filament binding. An importantparalog of thePKNOX2 gene isPKNOX1.

Structure

[edit]

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

[edit]

In a 2014review article of thegenome-wide association findings ofalcohol 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

[edit]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000165495Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000035934Ensembl, 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. ^ab"PKNOX2 PBX/knotted 1 homeobox 2 - Gene - GTR - NCBI".www.ncbi.nlm.nih.gov. National Center for Biotechnology Information. Retrieved31 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 thepublic 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, 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
(1.1) Basicleucine zipper (bZIP)
(1.2) Basic helix-loop-helix (bHLH)
Group A
Group B
Group C
bHLH-PAS
Group D
Group E
Group F
bHLH-COE
(1.3)bHLH-ZIP
(1.4) NF-1
(1.5) RF-X
(1.6) Basic helix-span-helix (bHSH)
(2)Zinc finger DNA-binding domains
(2.1)Nuclear receptor(Cys4)
subfamily 1
subfamily 2
subfamily 3
subfamily 4
subfamily 5
subfamily 6
subfamily 0
(2.2) Other Cys4
(2.3) Cys2His2
(2.4) Cys6
(2.5) Alternating composition
(2.6) WRKY
(3.1)Homeodomain
Antennapedia
ANTP class
protoHOX
Hox-like
metaHOX
NK-like
other
(3.2) Paired box
(3.3)Fork head /winged helix
(3.4)Heat shock factors
(3.5) Tryptophan clusters
(3.6) TEA domain
  • transcriptional enhancer factor
(4)β-Scaffold factors with minor groove contacts
(4.1)Rel homology region
(4.2)STAT
(4.3) p53-like
(4.4)MADS box
(4.6)TATA-binding proteins
(4.7)High-mobility group
(4.9) Grainyhead
(4.10) Cold-shock domain
(4.11) Runt
(0) Other transcription factors
(0.2) HMGI(Y)
(0.3)Pocket domain
(0.5)AP-2/EREBP-related factors
(0.6) Miscellaneous
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