PANK2 Gene: Pantothenate Kinase 2 - Function, Mutations, and Associated Diseases
A comprehensive overview of the PANK2 gene, its role in coenzyme A biosynthesis, associated disorders such as PKAN, and clinical significance.
Gene Information Card
| Symbol | PANK2 |
|---|---|
| Full Name | Pantothenate kinase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 20p13 |
| NCBI Gene ID | 80025 ncbi.nlm.nih.gov/gene/80025 |
| Ensembl ID | ENSG00000115053 |
| UniProt ID | Q9BZ23 |
| OMIM ID | 606157 |
| HGNC ID | 15894 |
| Aliases | HSS, NBIA1, PKAN |
Description
The PANK2 gene encodes pantothenate kinase 2, a mitochondrial enzyme that catalyzes the first committed step in coenzyme A (CoA) biosynthesis: the phosphorylation of pantothenate (vitamin B5) to phosphopantothenate. This enzyme is critical for cellular metabolism, fatty acid synthesis, and energy production. Mutations in PANK2 are the primary cause of pantothenate kinase-associated neurodegeneration (PKAN), a rare autosomal recessive disorder characterized by progressive dystonia, parkinsonism, and iron accumulation in the brain.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pantothenate kinase-associated neurodegeneration (PKAN) | Loss-of-function mutations in PANK2 lead to reduced CoA synthesis, causing neurodegeneration and iron accumulation in the basal ganglia. | ClinVar; OMIM 606157 |
| Neurodegeneration with brain iron accumulation (NBIA) | PANK2 mutations are a major cause of NBIA, a group of disorders with similar neurological symptoms. | OMIM; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | Low | Low tissue expression |
| Liver | Low | Low tissue expression |
| Kidney | Low | Low tissue expression |
| Testis | Low | Low tissue expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | Low | Low expression |
| HepG2 | Low | Low expression |
| K562 | Low | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1583C>T (p.Thr528Met) | Missense | Common pathogenic variant | Reduced enzyme activity |
| c.680A>G (p.Tyr227Cys) | Missense | Pathogenic | Impaired protein function |
| c.1250_1251del (p.Leu417Profs*5) | Frameshift | Pathogenic | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most PANK2 mutations are loss-of-function, leading to reduced or absent pantothenate kinase activity, impairing CoA biosynthesis.
Gain of Function (GOF)
No evidence of gain-of-function mutations in PANK2.
Dominant Negative (DN)
No evidence of dominant-negative effects; PKAN is inherited in an autosomal recessive manner.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • pantothenate kinase activity |
| • coenzyme A biosynthetic process | • phosphorylation |
| • mitochondrion |
Pathways
• Pantothenate and CoA biosynthesis
• Metabolic pathways
Protein Summary
Pantothenate kinase 2 is a mitochondrial protein that phosphorylates pantothenate (vitamin B5) to form 4'-phosphopantothenate, the first step in the universal CoA biosynthetic pathway. It is essential for maintaining cellular CoA levels, which are required for fatty acid metabolism, energy production, and neurotransmitter synthesis. Defects in this enzyme lead to PKAN, characterized by iron accumulation in the brain and progressive motor dysfunction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PANK2 Knockout HEK293 Cell Line | EDJ-KQ9431 | Human | 80025 | Details Get a Quote |
| PANK2 Knockout A-549 Cell Line | EDJ-KQ36102 | Human | 80025 | Details Get a Quote |
| PANK2 Knockout HCT 116 Cell Line | EDJ-KQ36103 | Human | 80025 | Details Get a Quote |
| PANK2 Knockout HeLa Cell Line | EDJ-KQ36104 | Human | 80025 | Details Get a Quote |
