NKX6-2 Chromosome 10
NK6 homeobox 2
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What This Gene Does
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]
Gene Info
Gene Group
NKL subclass homeoboxes and pseudogenes
Locus Type
gene with protein product
Location
10q26.3
Ensembl
ENSG00000148826
Associated Conditions (3)
Spastic ataxia 8
autosomal recessive
with hypomyelinating leukodystrophy
Key Variants
RS577964890
Conflicting classifications of pathogenicity
Health Risk
RS1207105923
Likely pathogenic
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
Health Risk
RS1356797524
Likely pathogenic
Health Risk
RS1565019976
Likely pathogenic
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
Health Risk
RS2134706153
Likely pathogenic
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
Health Risk
RS2493481426
Likely pathogenic
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
Health Risk
RS2493481557
Likely pathogenic
Health Risk
RS1008088032
Pathogenic
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
Health Risk
RS1131692047
Pathogenic
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
Health Risk
RS1131692048
Pathogenic
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
Health Risk
RS1565019932
Pathogenic
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
Health Risk
RS2134706311
Pathogenic
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
Health Risk
All Variants (20)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS577964890 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1207105923 | Health Risk | Likely pathogenic | Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy |
| RS1356797524 | Health Risk | Likely pathogenic | — |
| RS1565019976 | Health Risk | Likely pathogenic | Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy |
| RS2134706153 | Health Risk | Likely pathogenic | Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy |
| RS2493481426 | Health Risk | Likely pathogenic | Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy |
| RS2493481557 | Health Risk | Likely pathogenic | — |
| RS1008088032 | Health Risk | Pathogenic | Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy |
| RS1131692047 | Health Risk | Pathogenic | Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy |
| RS1131692048 | Health Risk | Pathogenic | Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy |
| RS1565019932 | Health Risk | Pathogenic | Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy |
| RS2134706311 | Health Risk | Pathogenic | Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy |
| RS2134706418 | Health Risk | Pathogenic | Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy |
| RS2134707034 | Health Risk | Pathogenic | — |
| RS2134707158 | Health Risk | Pathogenic | Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy |
| RS770310729 | Health Risk | Pathogenic | Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy |
| RS776560015 | Health Risk | Pathogenic | Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy |
| RS1554961118 | Health Risk | Pathogenic/Likely pathogenic | Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy |
| RS1565019928 | Health Risk | Pathogenic/Likely pathogenic | Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy |
| RS765650727 | Health Risk | Pathogenic/Likely pathogenic | Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy |