PANK2 (pantothenate kinase 2)

2014-11-01  

Identity

HGNC
LOCATION
20p13
LOCUSID
ALIAS
C20orf48,HARP,HSS,NBIA1,PKAN
FUSION GENES

Other Information

Locus ID:

NCBI: 80025
MIM: 606157
HGNC: 15894
Ensembl: ENSG00000125779

Variants:

dbSNP: 80025
ClinVar: 80025
TCGA: ENSG00000125779
COSMIC: PANK2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000125779ENST00000316562Q9BZ23
ENSG00000125779ENST00000336066V9GYZ0
ENSG00000125779ENST00000495692V9GYH1
ENSG00000125779ENST00000497424Q9BZ23
ENSG00000125779ENST00000610179Q9BZ23
ENSG00000125779ENST00000621507Q9BZ23
ENSG00000125779ENST00000643504A0A2R8YFI4
ENSG00000125779ENST00000646394A0A2R8YF29

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Pantothenate and CoA biosynthesisKEGGko00770
Pantothenate and CoA biosynthesisKEGGhsa00770
Metabolic pathwaysKEGGhsa01100
Coenzyme A biosynthesis, pantothenate => CoAKEGGhsa_M00120
Coenzyme A biosynthesis, pantothenate => CoAKEGGM00120
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Vitamin B5 (pantothenate) metabolismREACTOMER-HSA-199220
Coenzyme A biosynthesisREACTOMER-HSA-196783

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
156596062005Altered neuronal mitochondrial coenzyme A synthesis in neurodegeneration with brain iron accumulation caused by abnormal processing, stability, and catalytic activity of mutant pantothenate kinase 2.47
156596062005Altered neuronal mitochondrial coenzyme A synthesis in neurodegeneration with brain iron accumulation caused by abnormal processing, stability, and catalytic activity of mutant pantothenate kinase 2.47
164375742006Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation.41
125546852003An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondria.40
151052732004Mitochondrial localization of human PANK2 and hypotheses of secondary iron accumulation in pantothenate kinase-associated neurodegeneration.31
162721502006Biochemical properties of human pantothenate kinase 2 isoforms and mutations linked to pantothenate kinase-associated neurodegeneration.30
172423602007Activation of human mitochondrial pantothenate kinase 2 by palmitoylcarnitine.29
222213932012Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations.29
178258262007Localization and regulation of mouse pantothenate kinase 2.28
147433582004Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden-Spatz syndrome) and pantothenate kinase-associated neurodegeneration.23

Citation

Dessen P

PANK2 (pantothenate kinase 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71648/pank2