NKX6-2 NK6 homeobox 2

Gene ID: 84504, updated on 17-Aug-2024
Gene type: protein coding
Also known as: GTX; NKX6B; SPAX8; NKX6.2

Summary

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in cell differentiation; regulation of myelination; and regulation of transcription, DNA-templated. Predicted to act upstream of or within several processes, including negative regulation of transcription by RNA polymerase II; neurogenesis; and neuromuscular process controlling balance. Predicted to be part of chromatin. Predicted to be active in nucleus. Implicated in spastic ataxia 8. [provided by Alliance of Genome Resources, Apr 2022]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy MedGen: C4479653OMIM: 617560GeneReviews: NKX6-2-Related Disorder	See labs

Genomic context

Location:: 10q26.3

Sequence:: Chromosome: 10; NC_000010.11 (132783181..132786147, complement)

Total number of exons:: 3

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for NKX6-2 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
Variation Viewer
Related Variants

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