NKX6-2

NKX6-2
Identifiers
Aliases	NKX6-2 , GTX, NKX6.2, NKX6B, NK6 homeobox 2, SPAX8
External IDs	OMIM: 605955 MGI: 1352738 HomoloGene: 18580 GeneCards: NKX6-2
Gene location (Human) Chr. Chromosome 10 (human) [1] Band 10q26.3 Start 132,783,179 bp [1] End 132,786,147 bp [1]
Gene location (Mouse) Chr. Chromosome 7 (mouse) [2] Band 7 F4|7 84.57 cM Start 139,159,292 bp [2] End 139,162,713 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in substantia nigra putamen hippocampus proper temporal lobe amygdala hypothalamus caudate nucleus Brodmann area 9 nucleus accumbens corpus callosum Top expressed in ascending aorta aortic valve substantia nigra spermatid spermatocyte superior frontal gyrus supraoptic nucleus suprachiasmatic nucleus anterior horn of spinal cord facial motor nucleus More reference expression data BioGPS n/a
Gene ontology Molecular function DNA-binding transcription factor activity RNA polymerase II cis-regulatory region sequence-specific DNA binding sequence-specific DNA binding DNA-binding transcription repressor activity, RNA polymerase II-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus Biological process multicellular organism development positive regulation of glial cell differentiation cell differentiation oligodendrocyte differentiation negative regulation of glial cell differentiation regulation of transcription, DNA-templated negative regulation of transcription by RNA polymerase II negative regulation of cell fate commitment neuromuscular process controlling balance positive regulation of cell fate commitment central nervous system myelination endocrine pancreas development regulation of myelination negative regulation of transcription, DNA-templated positive regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 84504 14912 Ensembl ENSG00000148826 ENSMUSG00000041309 UniProt Q9C056 D3Z4R4 RefSeq (mRNA) NM_177400 NM_183248 RefSeq (protein) NP_796374 NP_899071 Location (UCSC) Chr 10: 132.78 – 132.79 Mb Chr 7: 139.16 – 139.16 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Homeobox protein Nkx-6.2 is a protein that in humans is encoded by the NKX6-2 gene. ^{[5] [6]}

Nk6 homeobox 2 gene (Nkx6.2) is found on chromosome 10 in humans and on chromosome 7 in murine species. ^{[7] [8]} Expression of the Nkx6.2 gene results in the Nkx6.2 transcription factor. ^[9] Its expression can be seen in the fetal brain, ventral portion of the neural tube, and the developing spinal cord during embryogenesis as well as in the adult brain. ^{[9] [10]} Expression was also found to be in germ cells of testes. ^[11]

Nkx6.2 is involved in the patterning of the central nervous system during early embryo development. ^[12] As this gene continues to be researched, newfound information suggests that it aids in human oligodendrocyte maturation. ^{[10] [13]} It has also been found to be important in motor function stemming from spinal neuronal circuits. ^[7]

Disorders with this gene can result in Spastic Ataxia which is a disease characterized by possible neurological issues, impaired learning ability, and a hypomyelinated central nervous system. ^{[8] [14]} Another study has shown that methylation of Nkx6.2 can be correlated with renal cancer metastasis. ^[15] An Nkx6.2 knock-out mouse model showed abnormal motor ability thus corroborating that Nkx6.2 plays a role in central nervous system development. ^[7]

References

1. GRCh38: Ensembl release 89: ENSG00000148826 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000041309 - 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. Lee SH, Davison JA, Vidal SM, Belouchi A (February 2001). "Cloning, expression and chromosomal location of NKX6B TO 10Q26, a region frequently deleted in brain tumors". Mamm. Genome. 12 (2): 157–62. doi:10.1007/s003350010247. PMID   11210186. S2CID   22368753.
6. "Entrez Gene: NK6 homeobox 2".
7. Touch M, Harris A, Schakman O, Kondratskaya E, Boulland J, Dauguet N, Debrulle S, Baudouin C, Figueroa M, Mu X, Gow A, Glover C, Tissir F, Clotman F (2020). "Onecut-dependent Nkx6.2 transcription factor expression is required for proper formation and activity of spinal locomotor circuits". Scientific Reports. 10 (1): 996. Bibcode:2020NatSR..10..996T. doi:10.1038/s41598-020-57945-4. PMC   6976625 . PMID   31969659.
8. Hosseini Bereshneh A, Hosseipour S, Rasoulinezhad M, Pak N, Garshasbi M, Tavasoli A (2020). "Expanding the clinical and neuroimaging features of NKX6-2-related hereditary spastic ataxia type 8". European Journal of Medical Genetics. 63 (5): 103868. doi:10.1016/j.ejmg.2020.103868. PMID   32004679.
9. Vallstedt A, Muhr J, Pattyn A, Pierani A, Mendelsohn M, Sander M, Jessel T, Ericson J (2001). "Different Levels of Repressor Activity Assign Redundant and Specific Roles to Nkx6 Genes in Motor Neuron and Interneuron Specification". Neuron. 31 (5): 743–755. doi: 10.1016/s0896-6273(01)00412-3 . PMID   11567614.
10. Chelban V, Patel N, Vandrovcova J, Zanetti M, Lynch D, Ryten M, Botia J, Bello O, Tribollet E, Efthymiou S, Davagnanam I, Bashiri F, Wood N, Rothman J, Alkuraya F (2017). "Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination". The American Journal of Human Genetics. 100 (6): 969–977. doi:10.1016/j.ajhg.2017.05.009. PMC   5473715 . PMID   28575651.
11. Komuro I, Schalling M, Jahn L, Bodmer R, Jenkins N, Copeland N, Izumo S (1993). "Gtx: a novel murine homeobox-containing gene, expressed specifically in glial cells of the brain and germ cells of testis, has a transcriptional repressor activity in vitro for a serum-inducible promoter". The EMBO Journal. 12 (4): 1387–1401. doi:10.1002/j.1460-2075.1993.tb05783.x. PMC   413350 . PMID   8096811.
12. Southwood C, He C, Garbern J, Kamholz J, Arroyo E, Gow A (2004). "CNS myelin paranodes require Nkx6-2 homeoprotein transcriptional activity for normal structure". Journal of Neuroscience. 24 (50): 11215–11225. doi:10.1523/JNEUROSCI.3479-04.2004. PMC   6730372 . PMID   15601927.
13. Cai J, Zhu Q, Zheng K, Li H, Qi Y, Cao Q, Qiu M (2010). "Co-localization of Nkx6. 2 and Nkx2. 2 homeodomain proteins in differentiated myelinating oligodendrocytes". Glia. 58 (4): 458–468. doi:10.1002/glia.20937. PMC   2807475 . PMID   19780200.
14. Shurrab S, Cordeiro D, Mercimek-Andrews S, Shuen AY (2023). "NKX6-2 Disease in Two Unrelated Patients with Early-Onset Spastic Quadriplegia and Diffuse Hypomyelinating Leukodystrophy". Brain Disorders. 9: 100069. doi: 10.1016/j.dscb.2023.100069 .
15. Serth J, Peters I, Katzendorn O, Dang T, Moog J, Balli Z, Reese C, Hennenlotter J, Grote A, Lafos M, Tezval H, Kuczyk M (2022). "Identification of a Novel Renal Metastasis Associated CpG-Based DNA Methylation Signature (RMAMS)". Int J Mol Sci. 23 (19): 11190. doi: 10.3390/ijms231911190 . PMC   9569431 . PMID   36232491.

Further reading

• Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.