Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PANK2 Gene

Aliases for PANK2 Gene

  • Pantothenate Kinase 2 2 3
  • Hallervorden-Spatz Syndrome 2 3
  • Pantothenic Acid Kinase 2 3 4
  • EC 4 63
  • C20orf48 3 4
  • NBIA1 3 6
  • HARP 3 6
  • PKAN 3 6
  • Neurodegeneration With Brain Iron Accumulation 1 (Hallervorden-Spatz Syndrome) 2
  • Pantothenate Kinase 2, Mitochondrial 3
  • HPanK2 4
  • HSS 3

External Ids for PANK2 Gene

Previous HGNC Symbols for PANK2 Gene

  • C20orf48
  • NBIA1

Previous GeneCards Identifiers for PANK2 Gene

  • GC20P003857
  • GC20P003864
  • GC20P003817
  • GC20P003869

Summaries for PANK2 Gene

Entrez Gene Summary for PANK2 Gene

  • 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]

GeneCards Summary for PANK2 Gene

PANK2 (Pantothenate Kinase 2) is a Protein Coding gene. Diseases associated with PANK2 include neurodegeneration with brain iron accumulation 1 and harp syndrome. Among its related pathways are Disease and Metabolism. GO annotations related to this gene include pantothenate kinase activity. An important paralog of this gene is PANK1.

UniProtKB/Swiss-Prot for PANK2 Gene

  • May be the master regulator of the CoA biosynthesis.

Gene Wiki entry for PANK2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PANK2 Gene

Genomics for PANK2 Gene

Regulatory Elements for PANK2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PANK2 Gene

3,887,610 bp from pter
3,929,882 bp from pter
42,273 bases
Plus strand

Genomic View for PANK2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PANK2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PANK2 Gene

Proteins for PANK2 Gene

  • Protein details for PANK2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Pantothenate kinase 2, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • B1AK33
    • B2Z3X0
    • D3DVZ0
    • Q5T7I2
    • Q5T7I4
    • Q7RTX5
    • Q8N7Q4
    • Q8TCR5
    • Q9BYW5
    • Q9HAF2

    Protein attributes for PANK2 Gene

    570 amino acids
    Molecular mass:
    62681 Da
    Quaternary structure:
    • Homodimer.
    • The HSS syndrome has been proposed to be renamed because of the unethical activities of Julius Hallervorden and Hugo Spatz during world war II
    • Sequence=BAC05173.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for PANK2 Gene


neXtProt entry for PANK2 Gene

Proteomics data for PANK2 Gene at MOPED

Selected DME Specific Peptides for PANK2 Gene

Post-translational modifications for PANK2 Gene

  • Ubiquitination at Lys250 and Lys543
  • Modification sites at PhosphoSitePlus

Other Protein References for PANK2 Gene

Antibody Products

Domains for PANK2 Gene

Protein Domains for PANK2 Gene

Suggested Antigen Peptide Sequences for PANK2 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the type II pantothenate kinase family.
  • Belongs to the type II pantothenate kinase family.
genes like me logo Genes that share domains with PANK2: view

No data available for Gene Families for PANK2 Gene

Function for PANK2 Gene

Molecular function for PANK2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + (R)-pantothenate = ADP + (R)-4-phosphopantothenate
UniProtKB/Swiss-Prot EnzymeRegulation:
Regulated by feedback inhibition by CoA and its thioesters
UniProtKB/Swiss-Prot Function:
May be the master regulator of the CoA biosynthesis.

Enzyme Numbers (IUBMB) for PANK2 Gene

Gene Ontology (GO) - Molecular Function for PANK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004594 pantothenate kinase activity IEA --
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with PANK2: view
genes like me logo Genes that share phenotypes with PANK2: view

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PANK2

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for PANK2 Gene

Localization for PANK2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PANK2 Gene

Isoform 1: Mitochondrion.
Isoform 2: Cytoplasm.
Isoform 3: Cytoplasm.
Isoform 4: Cytoplasm.

Subcellular locations from

Jensen Localization Image for PANK2 Gene COMPARTMENTS Subcellular localization image for PANK2 gene
Compartment Confidence
mitochondrion 5
cytosol 2
endoplasmic reticulum 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for PANK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion --
GO:0005758 mitochondrial intermembrane space TAS --
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with PANK2: view

Pathways for PANK2 Gene

SuperPathways for PANK2 Gene

genes like me logo Genes that share pathways with PANK2: view

UniProtKB/Swiss-Prot Q9BZ23-PANK2_HUMAN

  • Pathway: Cofactor biosynthesis; coenzyme A biosynthesis; CoA from (R)-pantothenate: step 1/5

Gene Ontology (GO) - Biological Process for PANK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006766 vitamin metabolic process TAS --
GO:0006767 water-soluble vitamin metabolic process TAS --
GO:0007286 spermatid development IEA --
GO:0008219 cell death --
GO:0009060 aerobic respiration IEA --
genes like me logo Genes that share ontologies with PANK2: view

Drugs for PANK2 Gene

(9) HMDB Compounds for PANK2 Gene

Compound Synonyms Cas Number PubMed IDs
  • (R)-4'-phospho-N-pantothenoyl-L-cysteine
Adenosine triphosphate
  • 5'-(Tetrahydrogen triphosphate) Adenosine
  • Adenosindiphosphorsaeure
  • (R)-4'-phosphopantothenate
  • N-((R)-Pantothenoyl)-L-cysteine

(5) Novoseek inferred chemical compound relationships for PANK2 Gene

Compound -log(P) Hits PubMed IDs
pantothenate 98.1 87
iron 64.8 16
cysteine 2.56 2
lipid 0 1
atp 0 1
genes like me logo Genes that share compounds with PANK2: view

Transcripts for PANK2 Gene

Unigene Clusters for PANK2 Gene

Pantothenate kinase 2:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PANK2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PANK2 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c · 12d
SP1: - - - - - - - - -
SP2: - - - - -
SP3: - - - - - -
SP4: - - - -
SP5: - - -
SP6: - - - - - - - - -
SP7: - - -
SP9: - - -
SP10: - - -

Relevant External Links for PANK2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PANK2 Gene

mRNA expression in normal human tissues for PANK2 Gene

Protein differential expression in normal tissues for PANK2 Gene

This gene is overexpressed in Cervix (36.2) and Adrenal (10.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PANK2 Gene

SOURCE GeneReport for Unigene cluster for PANK2 Gene Hs.516859

mRNA Expression by UniProt/SwissProt for PANK2 Gene

Tissue specificity: Ubiquitous.
genes like me logo Genes that share expressions with PANK2: view

Expression partners for PANK2 Gene

* - Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for PANK2 Gene

Orthologs for PANK2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PANK2 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia PANK2 35
  • 93.96 (n)
  • 95.97 (a)
PANK2 36
  • 94 (a)
(Canis familiaris)
Mammalia PANK2 35
  • 93.29 (n)
  • 94.41 (a)
PANK2 36
  • 93 (a)
(Mus musculus)
Mammalia Pank2 35
  • 89.16 (n)
  • 91.65 (a)
Pank2 16
Pank2 36
  • 91 (a)
(Pan troglodytes)
Mammalia PANK2 35
  • 97.12 (n)
  • 96.58 (a)
PANK2 36
  • 98 (a)
(Rattus norvegicus)
Mammalia Pank2 35
  • 89.01 (n)
  • 91.87 (a)
(Monodelphis domestica)
Mammalia PANK2 36
  • 83 (a)
(Ornithorhynchus anatinus)
Mammalia PANK2 36
  • 90 (a)
(Gallus gallus)
Aves PANK2 35
  • 77.97 (n)
  • 85.01 (a)
PANK2 36
  • 81 (a)
(Anolis carolinensis)
Reptilia -- 36
tropical clawed frog
(Silurana tropicalis)
Amphibia pank2 35
  • 75.07 (n)
  • 86.27 (a)
(Danio rerio)
Actinopterygii pank2 35
  • 69.21 (n)
  • 76.35 (a)
pank2 36
  • 70 (a)
fruit fly
(Drosophila melanogaster)
Insecta fbl 36
  • 47 (a)
(Caenorhabditis elegans)
Secernentea pnk-4 36
  • 12 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CAB1 36
  • 32 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 51 (a)
Species with no ortholog for PANK2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PANK2 Gene

Gene Tree for PANK2 (if available)
Gene Tree for PANK2 (if available)

Paralogs for PANK2 Gene

Paralogs for PANK2 Gene

(3) SIMAP similar genes for PANK2 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with PANK2: view

Variants for PANK2 Gene

Sequence variations from dbSNP and Humsavar for PANK2 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type MAF
rs7509501 -- 3,896,181(+) gctca(A/G)cctcc intron-variant
rs7351973 -- 3,893,715(+) GAAAA(G/T)GGATC intron-variant
rs7345923 -- 3,900,901(+) gtagc(G/T)ggggt intron-variant, upstream-variant-2KB
rs7273240 -- 3,900,989(+) ggtct(C/T)gaact intron-variant, upstream-variant-2KB
rs7268978 -- 3,913,937(+) gtgcc(C/T)gccac intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PANK2 Gene

Variant ID Type Subtype PubMed ID
nsv828673 CNV Gain 20364138
dgv776e199 CNV Deletion 23128226
esv2722123 CNV Deletion 23290073
nsv828676 CNV Loss 20364138
esv2668086 CNV Deletion 23128226
esv2674429 CNV Deletion 23128226

Relevant External Links for PANK2 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PANK2 Gene

Disorders for PANK2 Gene

(2) OMIM Diseases for PANK2 Gene (606157)


  • Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200]: Autosomal recessive neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. Clinical manifestations include progressive muscle spasticity, hyperreflexia, muscle rigidity, dystonia, dysarthria, and intellectual deterioration which progresses to severe dementia over several years. It is clinically classified into classic, atypical, and intermediate phenotypes. Classic forms present with onset in first decade, rapid progression, loss of independent ambulation within 15 years. Atypical forms have onset in second decade, slow progression, maintenance of independent ambulation up to 40 years later. Intermediate forms manifest onset in first decade with slow progression or onset in second decade with rapid progression. Patients with early onset tend to also develop pigmentary retinopathy, whereas those with later onset tend to also have speech disorders and psychiatric features. All patients have the eye of the tiger sign on brain MRI. {ECO:0000269 PubMed:11479594, ECO:0000269 PubMed:12510040, ECO:0000269 PubMed:15834858}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP) [MIM:607236]: Rare syndrome with many clinical similarities to PKAN. {ECO:0000269 PubMed:12058097}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(9) Novoseek inferred disease relationships for PANK2 Gene

Disease -log(P) Hits PubMed IDs
hallervorden-spatz disease 98.8 48
neurodegeneration 77 18
retinitis pigmentosa 66.5 4
parkinsonism 62.8 2
neurodegenerative diseases 61.6 4

Relevant External Links for PANK2

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with PANK2: view

No data available for Genatlas for PANK2 Gene

Publications for PANK2 Gene

  1. A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. (PMID: 11479594) Zhou B. … Hayflick S.J. (Nat. Genet. 2001) 2 3 4 23
  2. Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation. (PMID: 16437574) Hartig M.B. … Meitinger T. (Ann. Neurol. 2006) 3 23 48
  3. Mutations in the pantothenate kinase gene PANK2 are not associated with Parkinson disease. (PMID: 15843062) Klopstock T. … HAPrtnagel K. (Neurosci. Lett. 2005) 3 23 48
  4. An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondria. (PMID: 12554685) Hoertnagel K. … Meitinger T. (Hum. Mol. Genet. 2003) 3 4 23
  5. Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. (PMID: 12510040) Hayflick S.J. … Gitschier J. (N. Engl. J. Med. 2003) 4 23

Products for PANK2 Gene

  • Addgene plasmids for PANK2

Sources for PANK2 Gene

Back to Top