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; OMA:NKX6-2 - orthologs
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
	C1 segment; ; substantia nigra; ; putamen; ; hippocampus proper; ; primary visual cortex; ; apex of heart; ; temporal lobe; ; amygdala; ; hypothalamus; ; caudate nucleus;
	Top expressed in
	lumbar subsegment of spinal cord; ; ascending aorta; ; aortic valve; ; epithelium of gastric gland; ; substantia nigra; ; spermatid; ; spermatocyte; ; superior frontal gyrus; ; primary visual cortex; ; primordial pancreas;
	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]

Tissue distribution

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]

Function

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]

Clinical significance

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]

Research

A 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". Mammalian Genome. 12 (2): 157–162. doi:10.1007/s003350010247. PMID 11210186. S2CID 22368753.
^ "Entrez Gene: NK6 homeobox 2".
^ ^a ^b ^c Toch M, Harris A, Schakman O, Kondratskaya E, Boulland JL, Dauguet N, et al. (January 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 MS, Pak N, Garshasbi M, Tavasoli AR (May 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, et al. (September 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 MN, Lynch DS, Ryten M, et al. (June 2017). "Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination". 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 NA, Copeland NG, et al. (April 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 (December 2004). "CNS myelin paranodes require Nkx6-2 homeoprotein transcriptional activity for normal structure". The 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, et al. (March 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 (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 TN, Moog J, Balli Z, et al. (September 2022). "Identification of a Novel Renal Metastasis Associated CpG-Based DNA Methylation Signature (RMAMS)". International Journal of Molecular Sciences. 23 (19): 11190. doi:10.3390/ijms231911190. PMC 9569431. PMID 36232491.

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

This article on a gene on human chromosome 10 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000148826 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid11210186-5] 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". Mammalian Genome. 12 (2): 157–162. doi:10.1007/s003350010247. PMID 11210186. S2CID 22368753.

[entrez-6] "Entrez Gene: NK6 homeobox 2".

[Touch-7] Toch M, Harris A, Schakman O, Kondratskaya E, Boulland JL, Dauguet N, et al. (January 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.

[Hosseini-8] Hosseini Bereshneh A, Hosseipour S, Rasoulinezhad MS, Pak N, Garshasbi M, Tavasoli AR (May 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.

[Vallstedt-9] Vallstedt A, Muhr J, Pattyn A, Pierani A, Mendelsohn M, Sander M, et al. (September 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.

[Chelban-10] Chelban V, Patel N, Vandrovcova J, Zanetti MN, Lynch DS, Ryten M, et al. (June 2017). "Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination". American Journal of Human Genetics. 100 (6): 969–977. doi:10.1016/j.ajhg.2017.05.009. PMC 5473715. PMID 28575651.

[Komuro-11] Komuro I, Schalling M, Jahn L, Bodmer R, Jenkins NA, Copeland NG, et al. (April 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-12] Southwood C, He C, Garbern J, Kamholz J, Arroyo E, Gow A (December 2004). "CNS myelin paranodes require Nkx6-2 homeoprotein transcriptional activity for normal structure". The Journal of Neuroscience. 24 (50): 11215–11225. doi:10.1523/JNEUROSCI.3479-04.2004. PMC 6730372. PMID 15601927.

[Cai-13] Cai J, Zhu Q, Zheng K, Li H, Qi Y, Cao Q, et al. (March 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-14] Shurrab S, Cordeiro D, Mercimek-Andrews S (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-15] Serth J, Peters I, Katzendorn O, Dang TN, Moog J, Balli Z, et al. (September 2022). "Identification of a Novel Renal Metastasis Associated CpG-Based DNA Methylation Signature (RMAMS)". International Journal of Molecular Sciences. 23 (19): 11190. doi:10.3390/ijms231911190. PMC 9569431. PMID 36232491.

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