PANK2 Chromosome 20
Pantothenate kinase 2
Upload your DNA to see your personal genotypes for variants in PANK2.
What This Gene Does
This gene encodes a protein belonging to the pantothenate kinase family and is the only member of that family to be expressed in mitochondria. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by acyl CoA species. Mutations in this gene are associated with HARP syndrome and pantothenate kinase-associated neurodegeneration (PKAN), formerly Hallervorden-Spatz syndrome. Alternative splicing, involving the use of alternate first exons, results in multiple transcripts encoding different isoforms. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"MicroRNA protein coding host genes|Pantothenate kinase family"
Locus Type
gene with protein product
Location
20p13
Ensembl
ENSG00000125779
Associated Conditions (15)
Pigmentary pallidal degeneration
Hypoprebetalipoproteinemia
acanthocytosis
retinitis pigmentosa
and pallidal degeneration
Inborn genetic diseases
PANK2-related disorder
Dystonic disorder
Neurodegeneration
Thymoma
Retinal dystrophy
Cone-rod dystrophy
Retinitis pigmentosa
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
See cases
Key Variants
RS1131691472
Conflicting classifications of pathogenicity
Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
Health Risk
RS1241995212
Conflicting classifications of pathogenicity
Pigmentary pallidal degeneration, Hypoprebetalipoproteinemia, acanthocytosis
Health Risk
RS1288629241
Conflicting classifications of pathogenicity
Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
Health Risk
RS1337186041
Conflicting classifications of pathogenicity
Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
Health Risk
RS137852965
Conflicting classifications of pathogenicity
Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
Health Risk
RS137852967
Conflicting classifications of pathogenicity
Pigmentary pallidal degeneration, Hypoprebetalipoproteinemia, acanthocytosis
Health Risk
RS143090515
Conflicting classifications of pathogenicity
Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
Health Risk
RS1443740202
Conflicting classifications of pathogenicity
Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
Health Risk
RS1452787032
Conflicting classifications of pathogenicity
Pigmentary pallidal degeneration, Inborn genetic diseases, Pigmentary pallidal degeneration
Health Risk
RS1485088384
Conflicting classifications of pathogenicity
Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
Health Risk
RS149907912
Conflicting classifications of pathogenicity
Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
Health Risk
RS1568575238
Conflicting classifications of pathogenicity
Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
Health Risk
All Variants (153)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1230118868 | Health Risk | Likely pathogenic | Pigmentary pallidal degeneration, Pigmentary pallidal degeneration |
| RS1328306876 | Health Risk | Likely pathogenic | Pigmentary pallidal degeneration, Pigmentary pallidal degeneration |
| RS137852963 | Health Risk | Likely pathogenic | Pigmentary pallidal degeneration, Pigmentary pallidal degeneration |
| RS1390184629 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1600548506 | Health Risk | Likely pathogenic | Pigmentary pallidal degeneration, Pigmentary pallidal degeneration |
| RS2090482332 | Health Risk | Likely pathogenic | — |
| RS2090571332 | Health Risk | Likely pathogenic | Pigmentary pallidal degeneration, Pigmentary pallidal degeneration |
| RS2090601115 | Health Risk | Likely pathogenic | — |
| RS2090601656 | Health Risk | Likely pathogenic | Pigmentary pallidal degeneration, Pigmentary pallidal degeneration |
| RS2090674561 | Health Risk | Likely pathogenic | Pigmentary pallidal degeneration, Pigmentary pallidal degeneration |
| RS2515489381 | Health Risk | Likely pathogenic | Pigmentary pallidal degeneration, Pigmentary pallidal degeneration |
| RS2515490171 | Health Risk | Likely pathogenic | Pigmentary pallidal degeneration, Pigmentary pallidal degeneration |
| RS2515498921 | Health Risk | Likely pathogenic | Pigmentary pallidal degeneration, Pigmentary pallidal degeneration |
| RS2515500101 | Health Risk | Likely pathogenic | Pigmentary pallidal degeneration, Pigmentary pallidal degeneration |
| RS2515506277 | Health Risk | Likely pathogenic | Pigmentary pallidal degeneration, Pigmentary pallidal degeneration |
| RS2515522711 | Health Risk | Likely pathogenic | Pigmentary pallidal degeneration, Pigmentary pallidal degeneration |
| RS2515522749 | Health Risk | Likely pathogenic | Pigmentary pallidal degeneration, Pigmentary pallidal degeneration |
| RS2515528726 | Health Risk | Likely pathogenic | Pigmentary pallidal degeneration, Pigmentary pallidal degeneration |
| RS529267374 | Health Risk | Likely pathogenic | Pigmentary pallidal degeneration, Pigmentary pallidal degeneration |
| RS763496520 | Health Risk | Likely pathogenic | Pigmentary pallidal degeneration, Pigmentary pallidal degeneration, Pigmentary pallidal degeneration |
| RS777624606 | Health Risk | Likely pathogenic | Pigmentary pallidal degeneration, Pigmentary pallidal degeneration |
| RS905986782 | Health Risk | Likely pathogenic | Pigmentary pallidal degeneration, Pigmentary pallidal degeneration |
| RS1057518915 | Health Risk | Pathogenic | Neurodegeneration, Hypoprebetalipoproteinemia, acanthocytosis |
| RS1135401789 | Health Risk | Pathogenic | Pigmentary pallidal degeneration, Pigmentary pallidal degeneration, Pigmentary pallidal degeneration |
| RS1187082329 | Health Risk | Pathogenic | Pigmentary pallidal degeneration, Pigmentary pallidal degeneration |
| RS1250997630 | Health Risk | Pathogenic | Pigmentary pallidal degeneration, Pigmentary pallidal degeneration |
| RS1254386724 | Health Risk | Pathogenic | Pigmentary pallidal degeneration, Pigmentary pallidal degeneration |
| RS1258656410 | Health Risk | Pathogenic | Pigmentary pallidal degeneration, Pigmentary pallidal degeneration |
| RS1261714833 | Health Risk | Pathogenic | Pigmentary pallidal degeneration, Pigmentary pallidal degeneration |
| RS1324077575 | Health Risk | Pathogenic | Pigmentary pallidal degeneration, Pigmentary pallidal degeneration |
| RS1350217989 | Health Risk | Pathogenic | Pigmentary pallidal degeneration, Pigmentary pallidal degeneration |
| RS1360807330 | Health Risk | Pathogenic | Pigmentary pallidal degeneration, Pigmentary pallidal degeneration |
| RS137852960 | Health Risk | Pathogenic | Pigmentary pallidal degeneration, Pigmentary pallidal degeneration |
| RS137852964 | Health Risk | Pathogenic | Pigmentary pallidal degeneration, Pigmentary pallidal degeneration |
| RS137852968 | Health Risk | Pathogenic | Pigmentary pallidal degeneration, Dystonic disorder, Thymoma |
| RS137852969 | Health Risk | Pathogenic | Pigmentary pallidal degeneration, Pigmentary pallidal degeneration |
| RS1387875174 | Health Risk | Pathogenic | Pigmentary pallidal degeneration, Pigmentary pallidal degeneration |
| RS1421161193 | Health Risk | Pathogenic | Pigmentary pallidal degeneration, Pigmentary pallidal degeneration |
| RS148987163 | Health Risk | Pathogenic | Pigmentary pallidal degeneration, Inborn genetic diseases, Pigmentary pallidal degeneration |
| RS1555787646 | Health Risk | Pathogenic | Pigmentary pallidal degeneration, Pigmentary pallidal degeneration |
| RS1555787799 | Health Risk | Pathogenic | Pigmentary pallidal degeneration, Pigmentary pallidal degeneration |
| RS1555789557 | Health Risk | Pathogenic | Pigmentary pallidal degeneration, Pigmentary pallidal degeneration |
| RS1568550769 | Health Risk | Pathogenic | Pigmentary pallidal degeneration, Retinal dystrophy, Pigmentary pallidal degeneration |
| RS1568569941 | Health Risk | Pathogenic | Pigmentary pallidal degeneration, Pigmentary pallidal degeneration |
| RS1568570002 | Health Risk | Pathogenic | Pigmentary pallidal degeneration, Pigmentary pallidal degeneration |
| RS1568574931 | Health Risk | Pathogenic | Pigmentary pallidal degeneration, Pigmentary pallidal degeneration |
| RS1600534514 | Health Risk | Pathogenic | Pigmentary pallidal degeneration, Pigmentary pallidal degeneration |
| RS1600542260 | Health Risk | Pathogenic | Pigmentary pallidal degeneration, Pigmentary pallidal degeneration |
| RS1600542275 | Health Risk | Pathogenic | Pigmentary pallidal degeneration, Pigmentary pallidal degeneration |
| RS1600566207 | Health Risk | Pathogenic | — |