PANK2 Back

pantothenate kinase 2 (Hallervorden-Spatz syndrome)

External References:      Wikipedia GeneCards HUGO COSMIC Google Scholar

NCBI Description of PANK2
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.

Community Annotation of PANK2 Add / Edit PANK2: Annotations

No community annotations yet for PANK2.
Sort mutations by: Tumor type  Mutation type  Position  
Straightedge cursor Expand

Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

PANK2 is highly significantly mutated in
(none)
PANK2 is significantly mutated in
(none)
PANK2 is near significance in
(none)

Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for PANK2