Property Summary

NCBI Gene PubMed Count 58
PubMed Score 176.43
PubTator Score 238.39

Knowledge Summary

Patent (9,884)

Expression

  Differential Expression (7)

Disease log2 FC p
Waldenstrons macroglobulinemia 1.161 1.4e-02
osteosarcoma -1.612 1.7e-06
medulloblastoma, large-cell -1.500 1.2e-05
lung cancer 1.100 4.7e-03
group 4 medulloblastoma -1.200 1.2e-04
ovarian cancer 2.200 7.0e-06
dermatomyositis 1.400 7.8e-04

Protein-protein Interaction (6)

Gene RIF (44)

PMID Text
26547561 Tissue or cellular hypoxic/ischemic injury within the globus pallidus may underlie the pathogenesis of pantothenate kinase-associated neurodegeneration due to PANK2 mutations and apoE aggregates.
25915509 Data suggests that the c.680 A>G mutation in the PANK2 gene alone is not sufficient to determine acanthocytic shape transformation in erythrocytes but some additional factor(s)/condition(s) are necessary for acanthocytosis to occur.
25668476 Mutations in PANK2 and CoASY lead, respectively, to PKAN and CoPAN forms of Neurodegeneration with brain iron accumulation . Mutations in PLA2G6 lead to PLAN. Mutations in C19orf12 lead to MPAN
24689511 Novel PANK2 gene mutations and clinical features in patients with pantothenate kinase-associated neurodegeneration.
24655737 study presents 2 siblings who were homozygous for a novel c.695A>G (p.Asp232Gly) missense mutation in exon 2 of PANK2 gene; index patient presented with a 5-year history of slowly progressive gait disturbance, dysarthria, mild axial rigidity and bradykinesia
24348190 Caucasian patients have more complex presentations than Asians. Exon 3 and 4 are hot spots for screening PANK2 mutations in Asian patients.
23166001 Mutations in both PANK2 and C19orf12 contributed significantly to neurodegeneration with brain iron accumulation in the Iranian patients
23116688 we describe the clinical, radiological, and molecular find-ings of a classic PKAN patient of Iranian descent with a novel frameshift mutation in the coding region of the PANK2 gene
22930366 Identification of novel compound heterozygous mutations in PANK2 gene in two Chinese siblings with atypical pantothenate kinase-associated neurodegeneration.
22692681 Skin fibroblasts from pantothenate kinase-associated neurodegeneration patients highlight a possible molecular relationship between Pank2 deficiency and iron misregulation.
22221393 study used global metabolic profiling to explore the metabolic consequences of mutations in pantothenate kinase 2 that are responsible for Pantothenate Kinase-Associated Neurodegeneration
22103354 The c.1319G>C (p.R440P) mutation appears to be a founder genotype among Korean patients with Pantothenate kinase-associated neurodegeneration.
21442655 This study identified that new mutation of Pantothenate kinase associated with neurodegeneration.
20925075 "Progressive delayed-onset postanoxic dystonia" - First example of PKAN symptom onset possibly provoked by environmental trigger (anoxia)
20877624 Observational study of gene-disease association. (HuGE Navigator)
20721927 the patient reported here shows a peculiar PKAN clinical phenotype probably based on new mutations identified in the PANK2 gene
20603201 findings validate expression of the short PANK2 isoform and enable predictions about potentially deleterious sequence variants in the regulatory region of this human disease gene
20551478 PANK2 mutations are not invariably associated with the "eye-of-the-tiger sign (early onset generalised dystonia and basal ganglia abnormalities)
20006850 two Japanese siblings with the adult-onset slowly progressive type of pantothenate kinase-associated neurodegeneration who were found to have a novel PANK2 mutation
19224615 In this report identified a novel mutation( in the PANK29p.D378G and p.D452G )gene responsible for PKAN and confirmed that PKAN has a board spectrum of phenotype, even among siblings with same mutations.
18239249 a novel missense mutation (P354L) in exon 4 of the PANK2 gene in an adolescent with classic pantothenate kinase-associated neurodegeneration was identified
18074375 Focal hand dystonia showed atypical phenotype of PANK2 gene mutations.
18006953 Two novel PANK2 gene mutation in Pantothenate Kinase-Associated Neurodegeneration.
17903678 Pantothenate kinase-associated neurodegeneration is an autosomal-recessive disorder associated with the accumulation of iron in the basal ganglia associated with mutations in the PANK2 gene.
17825826 expression of PanK2 was higher in human brain compared to mouse brain
17631502 analysis of the homodimeric structures of the catalytic cores of PanK1alpha and PanK3 in complex with acetyl-CoA and the the structural effects of the PanK2 mutations that have been implicated in neurodegeneration
17242360 PanK2 is located in the mitochondria to sense the levels of palmitoylcarnitine and up-regulate CoA biosynthesis in response to an increased mitochondrial demand for the cofactor to support beta-oxidation
16962235 PANK2 mutations are not associated with some adult degenerative conditions
16450344 We demonstrate that the G521R mutation results in an unstable and inactive protein in tremor-predominant neurodegeneration.
16437574 Observational study of genotype prevalence. (HuGE Navigator)
16272150 Unique biochemical features of the PanK2 isoforms suggest that catalytic defects may not be the sole cause for the neurodegenerative phenotype.
16240131 The 1142_1144delGAG mutation of PANK2 probably originated from one common ancestor at the beginning of the ninth century, approximately 38 generations ago
15911822 The authors report clinical and genetic findings of 16 patients with PKAN. The authors identified 12 mutations in the PANK2 gene, five of which were new.
15843062 Observational study of gene-disease association. (HuGE Navigator)
15793782 PANK2 gene mutations can cause Hallervorden-Spatz syndrome in Chinese patients.
15747360 Novel compound heterozygous mutations (Asp268Gly and Ile391Asn) in the PANK2 gene in a Chinese patient with Hallervorden-Spatz Syndrome
15659606 These results suggest that neurodegeneration with brain iron accumulation (NBIA; formerly Hallervorden-Spatz disease) is caused by altered neuronal mitochondrial lipid metabolism caused by mutations disrupting PanK2 protein levels and catalytic activity.
15659606 Demonstrated that the mitochondrial isoform is sequentially cleaved at two sites by the mitochondrial processing peptidase, generating a long-lived 48 kDa mature protein localized to mitochondria of neurons in human brain.
15465096 Direct sequencing of the neurodegeneration patient's genomic DNA revealed homozygous base substitutions in the pantothenate kinase gene (PANK2): the A764-->G substitution (N245S) due to consanguinity of her parents.
15390030 Adult-onset focal dystonia was the presenting sign of pantothenate kinase-associated neurodegeneration (PKAN) in a patient with a novel homozygous missense mutation (C856T)
15105273 An unconventional translational start codon, CUG, which is polymorphic in the general population is proposed. PANK2 is predicted to localize to mitochondria, with a 29 amino acid mitochondrial targeting sequence identified.
14743358 The presence of mutation in the PANK2 gene is associated with younger age at onset and a higher frequency of dystonia, dysarthria, intellectual impairment, and gait disturbance. Parkinsonism is seen predominantly in adult-onset patients
14639680 Missense mutaions in PANK2 gene were observed in two siblings with Hallervorden- Spatz syndrome
12554685 Identified two alternatively used first exons resulting in distinct isoforms, one of which carries an N-terminal extension with a predicted mitochondrial targeting signal.

AA Sequence

MRRLGPFHPRVHWAAPPSLSSGLHRLLFLRGTRIPSSTTLSPPRHDSLSLDGGTVNPPRVREPTGREAFG      1 - 70
PSPASSDWLPARWRNGRGGRPRARLCSGWTAAEEARRNPTLGGLLGRQRLLLRMGGGRLGAPMERHGRAS     71 - 140
ATSVSSAGEQAAGDPEGRRQEPLRRRASSASVPAVGASAEGTRRDRLGSYSGPTSVSRQRVESLRKKRPL    141 - 210
FPWFGLDIGGTLVKLVYFEPKDITAEEEEEEVESLKSIRKYLTSNVAYGSTGIRDVHLELKDLTLCGRKG    211 - 280
NLHFIRFPTHDMPAFIQMGRDKNFSSLHTVFCATGGGAYKFEQDFLTIGDLQLCKLDELDCLIKGILYID    281 - 350
SVGFNGRSQCYYFENPADSEKCQKLPFDLKNPYPLLLVNIGSGVSILAVYSKDNYKRVTGTSLGGGTFFG    351 - 420
LCCLLTGCTTFEEALEMASRGDSTKVDKLVRDIYGGDYERFGLPGWAVASSFGNMMSKEKREAVSKEDLA    421 - 490
RATLITITNNIGSIARMCALNENINQVVFVGNFLRINTIAMRLLAYALDYWSKGQLKALFSEHEGYFGAV    491 - 560
GALLELLKIP                                                                561 - 570
//

Text Mined References (67)

PMID Year Title
27185474 2016 A novel gene mutation in PANK2 in a patient with severe jaw-opening dystonia.
26547561 2015 Pallidal neuronal apolipoprotein E in pantothenate kinase-associated neurodegeneration recapitulates ischemic injury to the globus pallidus.
25915509 2015 Acanthocytosis and the c.680 A>G Mutation in the PANK2 Gene: A Study Enrolling a Cohort of PKAN Patients from the Dominican Republic.
25668476 2015 Mitochondria: A crossroads for lipid metabolism defect in neurodegeneration with brain iron accumulation diseases.
25110003 2014 Defective pantothenate metabolism and neurodegeneration.
24689511 2015 Novel gene mutations and clinical features in patients with pantothenate kinase-associated neurodegeneration.
24655737 2014 Novel homozygous PANK2 mutation causing atypical pantothenate kinase-associated neurodegeneration (PKAN) in a Cypriot family.
24348190 2013 Phenotypes and genotypes of patients with pantothenate kinase-associated neurodegeneration in Asian and Caucasian populations: 2 cases and literature review.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24075960 2013 A novel gene mutation in PANK2 in a patient with an atypical form of pantothenate kinase-associated neurodegeneration.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23166001 2013 PANK2 and C19orf12 mutations are common causes of neurodegeneration with brain iron accumulation.
23116688 2013 A novel PANK2 gene mutation in a Persian boy: the first report from Iran.
22930366 2013 Novel PANK2 gene mutations in two Chinese siblings with atypical pantothenate kinase-associated neurodegeneration.
22692681 2012 Skin fibroblasts from pantothenate kinase-associated neurodegeneration patients show altered cellular oxidative status and have defective iron-handling properties.
22221393 2012 Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations.
22103354 2012 Pantothenate kinase-associated neurodegeneration in Korea: recurrent R440P mutation in PANK2 and outcome of deep brain stimulation.
21442655 2011 Pantothenate kinase-associated neurodegeneration: clinical description of 10 patients and identification of new mutations.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21198414 2011 Young-onset parkinsonism in a Hong Kong Chinese man with adult-onset Hallervorden-Spatz syndrome.
20925075 2010 "Progressive delayed-onset postanoxic dystonia" diagnosed with PANK2 mutations 26 years after onset-an update.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20721927 2010 Pantothenate kinase-associated neurodegeneration: novel mutations in the PANK2 gene in an Argentinean young woman.
20603201 2010 Characterization of the human PANK2 promoter.
20551478 2011 Low prevalence of PANK2 mutations in Brazilian patients with early onset generalised dystonia and basal ganglia abnormalities on MRI.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
20006850 2010 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.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19224615 2009 Pantothenate kinase-associated neurodegeneration in two Taiwanese siblings: identification of a novel PANK2 gene mutation.
18691976 2008 Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18239249 2008 Pantothenate kinase-associated neurodegeneration in two Chinese children: identification of a novel PANK2 gene mutation.
18074375 2008 Focal hand dystonia in a patient with PANK2 mutation.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
18006953 2007 A novel PANK2 gene mutation: clinical and molecular characteristics of patients short communication.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17903678 2007 Novel mutation in the PANK2 gene leads to pantothenate kinase-associated neurodegeneration in a Pakistani family.
17825826 2007 Localization and regulation of mouse pantothenate kinase 2.
17631502 2007 Crystal structures of human pantothenate kinases. Insights into allosteric regulation and mutations linked to a neurodegeneration disorder.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
17242360 2007 Activation of human mitochondrial pantothenate kinase 2 by palmitoylcarnitine.
17101457 2006 Neurodegeneration with brain iron accumulation: from genes to pathogenesis.
16962235 2006 PANK2 gene analysis confirms genetic heterogeneity in neurodegeneration with brain iron accumulation (NBIA) but mutations are rare in other types of adult neurodegenerative disease.
16450344 2006 Partial deficit of pantothenate kinase 2 catalytic activity in a case of tremor-predominant neurodegeneration with brain iron accumulation.
16437574 2006 Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation.
16272150 2006 Biochemical properties of human pantothenate kinase 2 isoforms and mutations linked to pantothenate kinase-associated neurodegeneration.
16240131 2005 A novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration: evidence for a founder effect.
15911822 2005 The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration.
15843062 2005 Mutations in the pantothenate kinase gene PANK2 are not associated with Parkinson disease.
15834858 2005 Atypical Hallervorden-Spatz disease with preserved cognition and obtrusive obsessions and compulsions.
15793782 2005 [Studies on PANK2 gene mutations in Chinese patients with Hallervorden-Spatz syndrome].
15747360 2005 Novel compound heterozygous mutations in the PANK2 gene in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration.
15659606 2005 Altered neuronal mitochondrial coenzyme A synthesis in neurodegeneration with brain iron accumulation caused by abnormal processing, stability, and catalytic activity of mutant pantothenate kinase 2.
15465096 2004 Pantothenate kinase-associated neurodegeneration initially presenting as postural tremor alone in a Japanese family with homozygous N245S substitutions in the pantothenate kinase gene.
15390030 2005 Clinical and neuropsychological correlates in two brothers with pantothenate kinase-associated neurodegeneration.
15105273 2004 Mitochondrial localization of human PANK2 and hypotheses of secondary iron accumulation in pantothenate kinase-associated neurodegeneration.
14743358 2004 Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden-Spatz syndrome) and pantothenate kinase-associated neurodegeneration.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14639680 2003 Pure akinesia: an unusual phenotype of Hallervorden-Spatz syndrome.
12554685 2003 An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondria.
12510040 2003 Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12058097 2002 HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration.
11780052 2001 The DNA sequence and comparative analysis of human chromosome 20.
11479594 2001 A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome.
8944032 1996 Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13.
2981478 1985 Coenzyme A metabolism.