Entity Details

Primary name PANK2
Entity type gene
Source Source Link

Details

PrimaryID80025
RefseqGeneNG_008131
SymbolPANK2
Namepantothenate kinase 2
Chromosome20
Location20p13
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-03-12
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsPANK2_HUMAN

GO terms

Show/Hide Table
GOName
GO:0001525 angiogenesis
GO:0004594 pantothenate kinase activity
GO:0005524 ATP binding
GO:0005634 nucleus
GO:0005739 mitochondrion
GO:0005758 mitochondrial intermembrane space
GO:0005829 cytosol
GO:0007286 spermatid development
GO:0009060 aerobic respiration
GO:0015937 coenzyme A biosynthetic process
GO:0015939 pantothenate metabolic process
GO:0016310 phosphorylation
GO:0019217 regulation of fatty acid metabolic process
GO:0051881 regulation of mitochondrial membrane potential
GO:0070584 mitochondrion morphogenesis
GO:0090207 regulation of triglyceride metabolic process
GO:1904251 regulation of bile acid metabolic process

Diseases

Show/Hide Table
Disease IDSourceNameDescription
234200 OMIMNeurodegeneration with brain iron accumulation 1 (NBIA1)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. The disease is caused by variants affecting the gene represented in this entry.
607236 OMIMHypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP)Rare syndrome with many clinical similarities to PKAN. The disease is caused by variants affecting the gene represented in this entry.

Interactions

40 interactions

InteractorPartnerSourcesPublicationsLink
PANK2SOCS4IntAct32814053 details
PANK2ABLIM2IntAct32814053 details
PANK2WDR61IntAct32814053 details
PANK2RNF34IntAct32814053 details
PANK2ASB13IntAct32814053 details
PANK2ATL1IntAct32814053 details
PANK2PMF1-BGLAPIntAct32814053 details
PANK2PMF1IntAct32814053 details
PANK2HAUS7IntAct32814053 details
PANK2STUB1IntAct32814053 details
PANK2COPS3IntAct32814053 details
PANK2ACRV1IntAct32814053 details
PANK2YWHAGIntAct17353931 28514442 details
PANK2YWHAZMINT15161933 details
PANK2KSR1BioGRID, IntAct27173435 unassigned1312 details
PANK2LRFN1BioGRID, IntAct27173435 unassigned1312 details
PANK2KCTD3BioGRID, IntAct27173435 unassigned1312 details
PANK2ZBTB21BioGRID, IntAct27173435 unassigned1312 details
PANK2KIF13BBioGRID, IntAct27173435 unassigned1312 details
PANK2CGNBioGRID, IntAct27173435 unassigned1312 details
PANK2CBY1BioGRID, IntAct27173435 unassigned1312 details
PANK2LXNBioGRID, IntAct17353931 details
PANK2QRICH2BioGRID, IntAct17353931 details
PANK2RASGRF2BioGRID, IntAct17353931 details
PANK2DHX36BioGRID, IntAct17353931 details
PANK2YWHAQBioGRID, IntAct17353931 28514442 details
PANK2TACC3BioGRID, IntAct26496610 details
PANK2ZNF526BioGRID, IntAct26496610 details
PANK2NECTIN2BioGRID, IntAct28514442 details
PANK2HSPA8BioGRID, IntAct28514442 details
PANK2UBBBioGRID, IntAct28514442 details
PANK2SAT2BioGRID, IntAct28514442 details
PANK2YWHABIntAct28514442 details
PANK2YWHAHIntAct28514442 details
PANK2YWHAEBioGRID, IntAct31980649 details
PANK2VDAC1BioGRID17353931 details
PANK2FBXW7BioGRID29346117 details
PANK2DCAF15BioGRID31452512 details
PANK2TRIM25BioGRID29117863 details
PANK2MKRN2BioGRID32460013 details