NKX6-2

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

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)[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 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 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
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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]