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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 58
  • C20orf48 3 4
  • Neurodegeneration With Brain Iron Accumulation 1 (Hallervorden-Spatz Syndrome) 2
  • Pantothenate Kinase 2, Mitochondrial 3
  • 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

Additional gene information for PANK2 Gene

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

Genomics for PANK2 Gene

Regulatory Elements for PANK2 Gene

Enhancers for PANK2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20H004012 1.7 FANTOM5 ENCODE dbSUPER 13.9 +125.4 125382 3 HDGF PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A ZNF2 YY1 SLC30A9 ENSG00000229539 RNF24 ADAM33 PANK2 AP5S1 SMOX PIR48338
GH20H004081 1.9 FANTOM5 Ensembl ENCODE dbSUPER 12.2 +195.0 195027 4 HDGF PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZNF766 RPL21P2 PANK2 SMOX ENSG00000229539 CDC25B CENPB SPEF1 RNF24 ENSG00000205300
GH20H003931 1 Ensembl ENCODE 17.3 +45.3 45329 4 IRF2 MAX BATF ZFHX2 POLR2A EED SCRT2 ZNF600 IKZF2 SCRT1 ENSG00000229539 PANK2 RNF24 PIR37079 PIR48338
GH20H004040 1.5 Ensembl ENCODE dbSUPER 11.2 +152.6 152622 2 ATF1 FEZF1 ZNF121 GLIS2 FOS KLF7 ATF7 SP3 TSHZ1 ZNF610 ENSG00000229539 PANK2 AP5S1 SPEF1 RPL21P2 FTLP3
GH20H003842 1.4 Ensembl ENCODE dbSUPER 11.9 -45.6 -45600 1 ELF3 ATF1 MLX KLF17 RAD21 RARA TCF12 SLC30A9 GLIS2 FOS CDC25B AP5S1 CENPB PANK2 ENSG00000229539 MAVS
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PANK2 on UCSC Golden Path with GeneCards custom track

Promoters for PANK2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000133825 861 3001 HDGF PKNOX1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9

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

Selected DME Specific Peptides for PANK2 Gene

Q9BZ23:
  • FIQMGRDKNFS
  • TGIRDVHLELK
  • DIYGGDYERFGL
  • LLAYALDYWSKGQLKALF
  • LKSIRKYLTSN
  • FEEALEMA

Post-translational modifications for PANK2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for PANK2 Gene

Gene Families for PANK2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

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

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

Phenotypes From GWAS Catalog for PANK2 Gene

Gene Ontology (GO) - Molecular Function for PANK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004594 pantothenate kinase activity TAS,NAS --
GO:0005515 protein binding IPI 17353931
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with PANK2: view
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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PANK2
  • Applied Biological Materials Clones for PANK2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PANK2 gene
Compartment Confidence
mitochondrion 5
cytosol 5
peroxisome 1
nucleus 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PANK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion NAS 22221393
GO:0005758 mitochondrial intermembrane space TAS --
GO:0005829 cytosol IDA --
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:0007286 spermatid development IEA --
GO:0009060 aerobic respiration IEA --
GO:0009108 coenzyme biosynthetic process TAS --
GO:0015937 coenzyme A biosynthetic process NAS 22221393
GO:0015939 pantothenate metabolic 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
ATP Nutra Agonist 0
Pantothenic acid Vet_approved Nutra 25

(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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PANK2
  • Applied Biological Materials Clones for PANK2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for PANK2 Gene



Protein tissue co-expression partners for PANK2 Gene

NURSA nuclear receptor signaling pathways regulating expression of PANK2 Gene:

PANK2

SOURCE GeneReport for Unigene cluster for PANK2 Gene:

Hs.516859

mRNA Expression by UniProt/SwissProt for PANK2 Gene:

Q9BZ23-PANK2_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for PANK2 Gene

  • Nervous system(4.6)
  • Liver(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PANK2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • larynx
  • mouth
  • neck
  • pharynx
  • vocal cord
Thorax:
  • esophagus
  • heart
Abdomen:
  • intestine
  • large intestine
  • stomach
Pelvis:
  • prostate
  • rectum
  • urinary bladder
Limb:
  • foot
  • lower limb
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with PANK2: view

Primer 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 33 34
  • 97.12 (n)
cow
(Bos Taurus)
Mammalia PANK2 33 34
  • 93.96 (n)
dog
(Canis familiaris)
Mammalia PANK2 33 34
  • 93.29 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PANK2 34
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pank2 33 16 34
  • 89.16 (n)
rat
(Rattus norvegicus)
Mammalia Pank2 33
  • 89.01 (n)
oppossum
(Monodelphis domestica)
Mammalia PANK2 34
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves PANK2 33 34
  • 77.97 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia pank2 33
  • 75.07 (n)
zebrafish
(Danio rerio)
Actinopterygii pank2 33 34
  • 69.21 (n)
fruit fly
(Drosophila melanogaster)
Insecta fbl 34
  • 47 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea pnk-4 34
  • 12 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CAB1 34
  • 32 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 51 (a)
OneToMany
Species where no ortholog for PANK2 was found in the sources mined by GeneCards:
  • 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
rs137852959 Pathogenic, Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200] 3,918,695(+) TTGTT(A/G)GAAAT nc-transcript-variant, upstream-variant-2KB, reference, missense
rs137852961 Pathogenic, Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200] 3,908,087(+) GCATT(C/T)GGGAC nc-transcript-variant, reference, missense, utr-variant-5-prime
rs137852962 Pathogenic, Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200] 3,908,153(+) TTATA(C/T)GCTTT intron-variant, reference, missense, utr-variant-5-prime
rs137852963 Pathogenic, Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200] 3,912,634(+) TTCAA(A/G)GTAAG intron-variant, nc-transcript-variant, reference, missense
rs137852964 Pathogenic, Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200] 3,910,646(+) TTGAC(C/T)CAGTC nc-transcript-variant, reference, missense, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
dgv776e199 CNV deletion 23128226
esv2668086 CNV deletion 23128226
esv2674429 CNV deletion 23128226
esv2722123 CNV deletion 23290073
esv3556756 CNV deletion 23714750
esv3645053 CNV loss 21293372
esv3645054 CNV gain 21293372
esv3645059 CNV loss 21293372
esv3645060 CNV loss 21293372
esv3645061 CNV loss 21293372
esv3645062 CNV loss 21293372
nsv1127812 CNV deletion 24896259
nsv828673 CNV gain 20364138
nsv828676 CNV loss 20364138

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

Human Gene Mutation Database (HGMD)
PANK2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PANK2

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

Disorders for PANK2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
neurodegeneration with brain iron accumulation 1
  • neurodegeneration with brain iron accumulation
harp syndrome
  • hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
atypical pantothenate kinase-associated neurodegeneration
  • nbia1, atypical form
rhyns syndrome
  • retinitis pigmentosa syndrome
retinitis pigmentosa
  • retinitis pigmentosa 1
- 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
  • 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.
  • 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, ECO:0000269 PubMed:22930366, ECO:0000269 PubMed:24075960, ECO:0000269 PubMed:24655737, ECO:0000269 PubMed:27185474}. 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 SJ (Nature genetics 2001) 2 3 4 22 60
  2. Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation. (PMID: 16437574) Hartig MB … Meitinger T (Annals of neurology 2006) 3 22 45 60
  3. Mutations in the pantothenate kinase gene PANK2 are not associated with Parkinson disease. (PMID: 15843062) Klopstock T … Hörtnagel K (Neuroscience letters 2005) 3 22 45 60
  4. An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondria. (PMID: 12554685) Hörtnagel K … Meitinger T (Human molecular genetics 2003) 3 4 22 60
  5. Novel homozygous PANK2 mutation causing atypical pantothenate kinase-associated neurodegeneration (PKAN) in a Cypriot family. (PMID: 24655737) Tanteles GA … Kleopa KA (Journal of the neurological sciences 2014) 3 4 60

Products for PANK2 Gene

  • Addgene plasmids for PANK2

Sources for PANK2 Gene

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