Identity
HGNC
LOCATION
20p13
LOCUSID
ALIAS
C20orf48,HARP,HSS,NBIA1,PKAN
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 80025
MIM: 606157
HGNC: 15894
Ensembl: ENSG00000125779
Variants:
dbSNP: 80025
ClinVar: 80025
TCGA: ENSG00000125779
COSMIC: PANK2
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37046296 | 2023 | Alpha-lipoic acid supplementation corrects pathological alterations in cellular models of pantothenate kinase-associated neurodegeneration with residual PANK2 expression levels. | 2 |
| 37121191 | 2023 | Clinical, imaging and genetic profile of twenty-four patients with pantothenate kinase-associated neurodegeneration (PKAN)- A single centre study from India. | 2 |
| 37904482 | 2023 | The first Vietnamese patient who presented late onset of pantothenate kinase-associated neurodegeneration diagnosed by whole exome sequencing: A case report. | 1 |
| 37046296 | 2023 | Alpha-lipoic acid supplementation corrects pathological alterations in cellular models of pantothenate kinase-associated neurodegeneration with residual PANK2 expression levels. | 2 |
| 37121191 | 2023 | Clinical, imaging and genetic profile of twenty-four patients with pantothenate kinase-associated neurodegeneration (PKAN)- A single centre study from India. | 2 |
| 37904482 | 2023 | The first Vietnamese patient who presented late onset of pantothenate kinase-associated neurodegeneration diagnosed by whole exome sequencing: A case report. | 1 |
| 33043782 | 2022 | PANK2 p.A170fs：a novel pathogenetic mutation, compound with PANK2 p.R440P, causing pantothenate kinase Associated neurodegeneration in a Chinese family. | 1 |
| 35204826 | 2022 | A Potential Citrate Shunt in Erythrocytes of PKAN Patients Caused by Mutations in Pantothenate Kinase 2. | 1 |
| 35246191 | 2022 | Genetic mutation spectrum of pantothenate kinase-associated neurodegeneration expanded by breakpoint sequencing in pantothenate kinase 2 gene. | 0 |
| 33043782 | 2022 | PANK2 p.A170fs：a novel pathogenetic mutation, compound with PANK2 p.R440P, causing pantothenate kinase Associated neurodegeneration in a Chinese family. | 1 |
| 35204826 | 2022 | A Potential Citrate Shunt in Erythrocytes of PKAN Patients Caused by Mutations in Pantothenate Kinase 2. | 1 |
| 35246191 | 2022 | Genetic mutation spectrum of pantothenate kinase-associated neurodegeneration expanded by breakpoint sequencing in pantothenate kinase 2 gene. | 0 |
| 32705819 | 2020 | PKAN neurodegeneration and residual PANK2 activities in patient erythrocytes. | 8 |
| 32705819 | 2020 | PKAN neurodegeneration and residual PANK2 activities in patient erythrocytes. | 8 |
| 30141000 | 2019 | Overexpression of Human Mutant PANK2 Proteins Affects Development and Motor Behavior of Zebrafish Embryos. | 8 |
Citation
Dessen P
PANK2 (pantothenate kinase 2)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/71648/pank2-(pantothenate-kinase-2)
