PANK2

pantothenate kinase 2

Summary

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]

Known Variants535 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7164782520:3,869,610G/A—likely benign
rs56451623520:3,869,695G/A—likely benign
rs19978717620:3,869,726G/C—likely benign
rs7164782620:3,869,737G/A—likely benign
rs56195305720:3,869,744G/T—likely benign
rs251541914720:3,869,754A/C—likely benign
rs121142529920:3,869,756G/T—uncertain significance
rs77478480020:3,869,759C/T—conflicting classifications of pathogenicity
rs74840597720:3,869,761G/A—uncertain significance
rs251541922120:3,869,765C/T—likely benign
rs121623865820:3,869,771C/T—likely benign
rs54172218820:3,869,777C/T—likely benign
rs88604406320:3,869,778G/A—uncertain significance
rs37428603320:3,869,781C/T—conflicting classifications of pathogenicity
rs97100304420:3,869,784T/C—uncertain significance
rs251541950120:3,869,785G/A—uncertain significance
rs138917630920:3,869,789G/A—likely benign
rs76472681720:3,869,792G/A—likely benign
rs98235915020:3,869,795G/A—likely benign
rs88605665020:3,869,801A/G—conflicting classifications of pathogenicity
rs156854905620:3,869,802C/T—uncertain significance
rs57333784820:3,869,805T/C—uncertain significance
rs76411976420:3,869,808T/C—conflicting classifications of pathogenicity
rs14470731520:3,869,813G/T—likely benign
rs209006543220:3,869,816A/C—likely benign
rs117827531420:3,869,823C/T—uncertain significance
rs142739318020:3,869,826C/A—uncertain significance
rs209006589220:3,869,828C/G—likely benign
rs75390903720:3,869,831C/T—likely benign
rs74857854720:3,869,836G/C—likely benign
rs53060912720:3,869,842C/T—uncertain significance
rs39812454920:3,869,843C/T—conflicting classifications of pathogenicity
rs20108460320:3,869,846G/A—likely benign
rs76950513920:3,869,851C/T—uncertain significance
rs251542042620:3,869,852C/T—likely benign
rs127881273320:3,869,855C/T—likely benign
rs142640697820:3,869,860C/A—uncertain significance
rs20050677620:3,869,861C/T—likely benign
rs76738609020:3,869,864C/A—likely benign
rs131817660620:3,869,865C/T—uncertain significance
rs117112416720:3,869,870C/T—likely benign
rs75393784920:3,869,873G/T—likely benign
rs11196449520:3,869,876C/T—likely benign
rs20025373020:3,869,878G/T—uncertain significance
rs14803649220:3,869,884A/T—likely benign
rs37594129820:3,869,888C/T—likely benign
rs130127245720:3,869,895T/C—likely benign
rs135877153720:3,869,900C/T—likely benign
rs148508838420:3,869,906C/T—conflicting classifications of pathogenicity
rs214680353820:3,869,907A/G—uncertain significance
rs138634027420:3,869,919C/T—uncertain significance
rs145278703220:3,869,934C/T—conflicting classifications of pathogenicity
rs251542119020:3,869,936G/A—likely benign
rs214680369320:3,869,947A/C—uncertain significance
rs90035938720:3,869,954T/G—uncertain significance
rs130138860320:3,869,956G/C—uncertain significance
rs121439000520:3,869,960G/C—likely benign
rs137030476320:3,869,966A/G—likely benign
rs131527535220:3,869,969C/G—likely benign
rs251542149820:3,869,974C/T—uncertain significance
rs75282084820:3,869,986C/T—uncertain significance
rs214680385220:3,869,990G/T—likely benign
rs99505815120:3,869,992G/A—uncertain significance
rs141962029420:3,869,998G/A—uncertain significance
rs209007017120:3,869,999C/T—likely benign
rs251542177820:3,870,005A/C—likely benign
rs209007050720:3,870,011C/T—likely benign
rs75765195720:3,870,019C/T—uncertain significance
rs37026080320:3,870,020G/C—likely benign
rs14283284920:3,870,023G/A—likely benign
rs19968005720:3,870,027C/G—conflicting classifications of pathogenicity
rs7164782720:3,870,028G/C—likely benign
rs55840471820:3,870,030C/A—uncertain significance
rs57325241320:3,870,032C/T—likely benign
rs55568386020:3,870,038T/C—likely benign
rs76307468520:3,870,041C/G—likely benign
rs144150524420:3,870,046C/T—uncertain significance
rs131357304020:3,870,047T/G—likely benign
rs57394843420:3,870,049C/T—uncertain significance
rs54423947820:3,870,050C/T—conflicting classifications of pathogenicity
rs251542237020:3,870,054G/C—uncertain significance
rs129296601520:3,870,055A/C—uncertain significance
rs53615730920:3,870,056G/C—uncertain significance
rs78055188320:3,870,057G/Tstop gainedpathogenic
rs74878022220:3,870,058A/C—uncertain significance
rs130686406220:3,870,062G/A—likely benign
rs128184105020:3,870,065A/G—likely benign
rs74785721620:3,870,067G/A—uncertain significance
rs77171078120:3,870,068G/A—conflicting classifications of pathogenicity
rs209007280820:3,870,071T/C—likely benign
rs74676386320:3,870,073C/T—uncertain significance
rs118868157020:3,870,074G/C—likely benign
rs141792022420:3,870,075A/C—uncertain significance
rs77658801020:3,870,076C/T—uncertain significance
rs7164782820:3,870,079T/A—likely benign
rs77455883120:3,870,082G/A—uncertain significance
rs133718604120:3,870,083G/A—conflicting classifications of pathogenicity
rs143257210220:3,870,084G/A—uncertain significance
rs126820789220:3,870,085G/T—uncertain significance
rs128528689120:3,870,086C/T—likely benign

Showing 100 of 535 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.