Gene entry
PANK2
pantothenate kinase 2
- Chromosome
- 20
- Cytoband
- 20p13
- Variants (rsID)
- 8
PANK2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 20 (region 20p13). Its official name is “pantothenate kinase 2”. The reference table lists 8 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs137852961Likely pathogenicsingle nucleotide variantPigmentary pallidal degeneration
- rs137852959Pathogenicsingle nucleotide variantPigmentary pallidal degeneration|Neurodegeneration with brain iron accumulation 1, atypical|Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration|Inborn genetic diseases|Retinitis pigmentosa
- rs137852962Pathogenicsingle nucleotide variantPigmentary pallidal degeneration
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.