AutismKB 2.0

Annotation Details for PANK2


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Basic Information Top
Gene Symbol:PANK2 ( C20orf48,FLJ17232,HARP,HSS,MGC15053,NBIA1,PKAN )
Gene Full Name: pantothenate kinase 2
Band: 20p13
Quick LinksEntrez ID:80025; OMIM: 606157; Uniprot ID:PANK2_HUMAN; ENSEMBL ID: ENSG00000125779; HGNC ID: 15894
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005739NAS-mitochondrion22221393
GO:0005758TAS-mitochondrial intermembrane space-
GO:0005829IDA-cytosol-
GO ID Evidence Qualifier GO_term References
GO:0004594NAS-pantothenate kinase activity22221393
GO:0004594TAS-pantothenate kinase activity-
GO:0005524IEA-ATP binding-
GO ID Evidence Qualifier GO_term References
GO:0007286IEA-spermatid development-
GO:0009060IEA-aerobic respiration-
GO:0009108TAS-coenzyme biosynthetic process-
GO:0015937IEA-coenzyme A biosynthetic process-
GO:0015937NAS-coenzyme A biosynthetic process22221393
GO:0015939NAS-pantothenate metabolic process22221393
GO:0016310NAS-phosphorylation22221393
GO:0019217IMP-regulation of fatty acid metabolic process22221393
GO:0051881IEA-regulation of mitochondrial membrane potential-
GO:0070584IEA-mitochondrion morphogenesis-
GO:0090207IMP-regulation of triglyceride metabolic process22221393
GO:1904251IMP-regulation of bile acid metabolic process22221393
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
PANK2RASGRF212307917353931 Affinity Capture-MS
PANK2RASGRF211185917353931 Affinity Capture-MS
PANK2VDAC112307917353931 Affinity Capture-MS
PANK2VDAC111325917353931 Affinity Capture-MS
PANK2YWHAQ12307917353931 Affinity Capture-MS
PANK2YWHAQ11616817353931 Affinity Capture-MS
PANK2LXN12125217353931 Affinity Capture-MS
PANK2LXN12307917353931 Affinity Capture-MS
DHX36PANK212307917353931 Affinity Capture-MS
DHX36PANK212802217353931 Affinity Capture-MS
QRICH2PANK212386917353931 Affinity Capture-MS
QRICH2PANK212307917353931 Affinity Capture-MS
No data
No data
AlzGene, PDGene and SZGene Top
No data
Gene Symbol Poly Names Gene overview in PDGene
PANK2PANK2_137T/A, rs3737084, rs71647828 Gene overview in PDGene
No data
Animal Model Top
  • MGI ID: MGI:1921700
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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