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)
End	132,786,147 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	139,162,713 bp
RNA expression pattern
	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
	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
	84504
	14912
	ENSG00000148826
	ENSMUSG00000041309
	Q9C056
	D3Z4R4
	NM_177400
	NM_183248
	NP_796374
	NP_899071
	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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000148826 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000041309 – 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.
^ 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.
^ "Entrez Gene: NK6 homeobox 2".
^ ^a ^b ^c 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.
^ ^a ^b 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.
^ ^a ^b 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.
^ ^a ^b 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.
^ 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.
^ 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.
^ 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.
^ 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.
^ 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.

References

Further reading