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Aliases for PANK2 Gene

Aliases for PANK2 Gene

  • Pantothenate Kinase 2 2 3 5
  • Hallervorden-Spatz Syndrome 2 3
  • Pantothenic Acid Kinase 2 3 4
  • EC 2.7.1.33 4 63
  • C20orf48 3 4
  • Neurodegeneration With Brain Iron Accumulation 1 (Hallervorden-Spatz Syndrome) 2
  • HPanK2 4
  • NBIA1 3
  • HARP 3
  • PKAN 3
  • 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 Metabolism and Metabolism of water-soluble vitamins and cofactors. 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

Promoters for PANK2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PANK2 on UCSC Golden Path with GeneCards custom track

Genomic Location for PANK2 Gene

Chromosome:
20
Start:
3,888,839 bp from pter
End:
3,929,882 bp from pter
Size:
41,044 bases
Orientation:
Plus strand

Genomic View for PANK2 Gene

Genes around PANK2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PANK2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    Q9BZ23-PANK2_HUMAN
    Recommended name:
    Pantothenate kinase 2, mitochondrial
    Protein Accession:
    Q9BZ23
    Secondary Accessions:
    • B1AK33
    • B2Z3X0
    • D3DVZ0
    • Q5T7I2
    • Q5T7I4
    • Q7RTX5
    • Q8N7Q4
    • Q8TCR5
    • Q9BYW5
    • Q9HAF2

    Protein attributes for PANK2 Gene

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

    Three dimensional structures from OCA and Proteopedia for PANK2 Gene

    Alternative splice isoforms for PANK2 Gene

    UniProtKB/Swiss-Prot:

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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

Domains & Families for PANK2 Gene

Protein Domains for PANK2 Gene

Suggested Antigen Peptide Sequences for PANK2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BZ23

UniProtKB/Swiss-Prot:

PANK2_HUMAN :
  • Belongs to the type II pantothenate kinase family.
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

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

Human Phenotype Ontology for PANK2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PANK2 Gene

MGI Knock Outs for PANK2:

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , 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

COMPARTMENTS
Jensen Localization Image for PANK2 Gene COMPARTMENTS Subcellular localization image for PANK2 gene
Compartment Confidence
mitochondrion 5
cytosol 3
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 NAS 22221393
genes like me logo Genes that share ontologies with PANK2: view

Pathways & Interactions 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:0007286 spermatid development IEA --
GO:0009060 aerobic respiration IEA --
GO:0009108 coenzyme biosynthetic process TAS --
GO:0015937 coenzyme A biosynthetic process NAS 22221393
genes like me logo Genes that share ontologies with PANK2: view

No data available for SIGNOR curated interactions for PANK2 Gene

Drugs & Compounds for PANK2 Gene

(5) Drugs for PANK2 Gene - From: Novoseek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
Pantothenic acid Nutra 19

(9) Additional Compounds for PANK2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
4-Phosphopantothenoylcysteine
  • (R)-4'-phospho-N-pantothenoyl-L-cysteine
  • (R)-N-[N-[2-hydroxy-3,3-dimethyl-1-oxo-4-(phosphonooxy)butyl]-b-alanyl]-L-Cysteine
  • (R)-N-[N-[2-hydroxy-3,3-dimethyl-1-oxo-4-(phosphonooxy)butyl]-beta-alanyl]-L-Cysteine
  • 4'-P-N-Pantothenoylcysteine
  • 4'-Phospho-N-pantothenoylcysteine
7196-09-0
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
D-4'-Phosphopantothenate
  • (R)-4'-phosphopantothenate
  • 4'-P-Pantothenate
  • 4'-Phosphopantothenate
  • D-4'-Phosphopantothenate
  • D-4'-Phosphopantothenic acid
D-Pantothenoyl-L-cysteine
  • N-((R)-Pantothenoyl)-L-cysteine
  • N-Pantothenoylcystein
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
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:

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: - - -
SP8:
SP9: - - -
SP10: - - -

Relevant External Links for PANK2 Gene

GeneLoc Exon Structure for
PANK2
ECgene alternative splicing isoforms for
PANK2

Expression for PANK2 Gene

mRNA expression in normal human tissues for PANK2 Gene

Protein differential expression in normal tissues from HIPED for PANK2 Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines 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

Q9BZ23-PANK2_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with PANK2: view

Protein tissue co-expression partners for PANK2 Gene

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
chimpanzee
(Pan troglodytes)
Mammalia PANK2 35
  • 97.12 (n)
  • 96.58 (a)
PANK2 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PANK2 36
  • 94 (a)
OneToOne
PANK2 35
  • 93.96 (n)
  • 95.97 (a)
dog
(Canis familiaris)
Mammalia PANK2 35
  • 93.29 (n)
  • 94.41 (a)
PANK2 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pank2 16
Pank2 35
  • 89.16 (n)
  • 91.65 (a)
Pank2 36
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PANK2 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PANK2 36
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pank2 35
  • 89.01 (n)
  • 91.87 (a)
chicken
(Gallus gallus)
Aves PANK2 35
  • 77.97 (n)
  • 85.01 (a)
PANK2 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia pank2 35
  • 75.07 (n)
  • 86.27 (a)
zebrafish
(Danio rerio)
Actinopterygii pank2 36
  • 70 (a)
OneToMany
pank2 35
  • 69.21 (n)
  • 76.35 (a)
fruit fly
(Drosophila melanogaster)
Insecta fbl 36
  • 47 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea pnk-4 36
  • 12 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CAB1 36
  • 32 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 51 (a)
OneToMany
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

ENSEMBL:
Gene Tree for PANK2 (if available)
TreeFam:
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
rs71647828 - 3,889,432(+) GACGC(A/T)GGGGG intron-variant, upstream-variant-2KB, reference, missense
rs3737084 - 3,889,477(+) GGGAG(A/C/G/T)GGGCC intron-variant, upstream-variant-2KB, reference, missense
VAR_015154 Neurodegeneration with brain iron accumulation 1 (NBIA1)
VAR_015155 Neurodegeneration with brain iron accumulation 1 (NBIA1)
rs1475607 -- 3,899,168(+) CGTGC(C/G)CAGCC 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

Variation tolerance for PANK2 Gene

Residual Variation Intolerance Score: 18% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.17; 69.60% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PANK2 Gene

HapMap Linkage Disequilibrium report
PANK2
Human Gene Mutation Database (HGMD)
PANK2

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

Disorders for PANK2 Gene

MalaCards: The human disease database

(22) MalaCards diseases for PANK2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
neurodegeneration with brain iron accumulation 1
  • pantothenate kinase-associated neurodegeneration
harp syndrome
  • hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
atypical pantothenate kinase-associated neurodegeneration
  • nbia1, atypical form
retinitis pigmentosa
  • retinitis pigmentosa 1
retinitis pigmentosa 73
  • rp73
- elite association - COSMIC cancer census association via MalaCards
Search PANK2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PANK2_HUMAN
  • 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.

Relevant External Links for PANK2

Genetic Association Database (GAD)
PANK2
Human Genome Epidemiology (HuGE) Navigator
PANK2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PANK2
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 67
  2. Siblings with the adult-onset slowly progressive type of pantothenate kinase-associated neurodegeneration and a novel mutation, Ile346Ser, in PANK2: clinical features and (99m)Tc-ECD brain perfusion SPECT findings. (PMID: 20006850) Doi H. … Kuroiwa Y. (J. Neurol. Sci. 2010) 3 23
  3. Focal hand dystonia in a patient with PANK2 mutation. (PMID: 18074375) Chung S.J. … Kim G.H. (Mov. Disord. 2008) 3 23
  4. Pantothenate kinase-associated neurodegeneration in two Chinese children: identification of a novel PANK2 gene mutation. (PMID: 18239249) Chan K.Y. … Yuen Y.P. (Hong Kong Med J 2008) 3 23
  5. Activation of human mitochondrial pantothenate kinase 2 by palmitoylcarnitine. (PMID: 17242360) Leonardi R. … Zhang Y.M. (Proc. Natl. Acad. Sci. U.S.A. 2007) 3 23

Products for PANK2 Gene

Sources for PANK2 Gene

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