NKX6-2
Homeobox protein Nkx-6.2
Also known as: GTX, NKX6.1, NKX62_HUMAN, NKX6B
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9C056
- Gene
- NKX6-2
- Ensembl
- ENSG00000148826
- Chromosome
- 10
- Canonical length
- 277 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
OverviewNCBI Gene
Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in cell differentiation; regulation of DNA-templated transcription; and regulation of myelination. Predicted to act upstream of or within several processes, including central nervous system myelination; pancreatic A cell differentiation; and regulation of oligodendrocyte differentiation. Predicted to be located in chromatin. Predicted to be active in nucleus. Implicated in spastic ataxia 8. [provided by Alliance of Genome Resources, Apr 2025]
Canonical amino-acid sequenceUniProt
277 residues, UniProt reviewed canonical sequence.
>Q9C056|NKX6-2
1 MDTNRPGAFV LSSAPLAALH NMAEMKTSLF PYALQGPAGF KAPALGGLGA QLPLGTPHGI
61 SDILGRPVGA AGGGLLGGLP RLNGLASSAG VYFGPAAAVA RGYPKPLAEL PGRPPIFWPG
121 VVQGAPWRDP RLAGPAPAGG VLDKDGKKKH SRPTFSGQQI FALEKTFEQT KYLAGPERAR
181 LAYSLGMTES QVKVWFQNRR TKWRKRHAVE MASAKKKQDS DAEKLKVGGS DAEDDDEYNR
241 PLDPNSDDEK ITRLLKKHKP SNLALVSPCG GGAGDALLocalizationUniProt · AlphaFold · HPA
Whether an antibody against NKX6-2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.63
- Highest tissue expression
- 104 nTPM
Expression across tissuesHPA
Tissue
- spinal cord: 104 nTPM
- midbrain: 62 nTPM
- hippocampal formation: 48 nTPM
- basal ganglia: 37 nTPM
- hypothalamus: 28 nTPM
- amygdala: 27 nTPM
Single-cell type
- oligodendrocytes: 335 nCPM
- foveolar cells: 101 nCPM
- esophageal apical cells: 23 nCPM
- respiratory ciliated cells: 11 nCPM
- undifferentiated spermatogonia: 8.1 nCPM
- gastric chief cells: 7.6 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- white matter: 203 nTPM
- medulla oblongata: 133 nTPM
- midbrain: 122 nTPM
- basal ganglia: 117 nTPM
- cerebellum: 103 nTPM
- pons: 103 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about NKX6-2.
Disease | AllUniProt
Conditions NKX6-2 is implicated in, by any mechanism.
- Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy (SPAX8) MIM:617560
Disease | GeneticClinVar
23 pathogenic / likely-pathogenic of 187 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.31
- gnomAD pLI
- 0.03
- gnomAD missense Z
- -0.14
- DepMap mean gene effect
- 0.05
- DepMap dependency class
- none
OntologyGO
Biological processes
- cell differentiation
- central nervous system myelination
- negative regulation of cell fate commitment
- negative regulation of DNA-templated transcription
- negative regulation of oligodendrocyte differentiation
- neuromuscular process controlling balance
- pancreatic A cell differentiation
- positive regulation of cell fate commitment
- positive regulation of oligodendrocyte differentiation
- regulation of DNA-templated transcription
- regulation of myelination
- regulation of transcription by RNA polymerase II
- spinal cord motor neuron cell fate specification
Molecular functions
- DNA binding
- DNA-binding transcription factor activity
- DNA-binding transcription factor activity, RNA polymerase II-specific
- DNA-binding transcription repressor activity, RNA polymerase II-specific
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- sequence-specific double-stranded DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads NKX6-2 as an antibody target. Whether an autoantibody or antibody against NKX6-2 could matter depends on whether native NKX6-2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
NKX6-2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label NKX6-2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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