Property Summary

NCBI Gene PubMed Count 58
Grant Count 29
R01 Count 22
Funding $6,369,925.5
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 0.014
osteosarcoma -1.612 0.000
medulloblastoma, large-cell -1.500 0.000
lung cancer 1.100 0.005
group 4 medulloblastoma -1.200 0.000
ovarian cancer 2.200 0.000
dermatomyositis 1.400 0.001

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.
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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.
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