• Gene id: 80025

Gene Summary

• Gene Symbol: PANK2   Gene   UCSC   Ensembl
• Aliases: C20orf48, HARP, HSS, NBIA1, PKAN
• Gene name: pantothenate kinase 2
• Alternate names: pantothenate kinase 2, mitochondrial, Hallervorden-Spatz syndrome, pantothenic acid kinase 2,
• Gene location: 20p13 (3888822: 3933086)     Exons: 12     NC_000020.11
• Gene summary(Entrez): 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
• OMIM: 606157

Protein Summary

• Protein general information: Q9BZ23  
  • Name: Pantothenate kinase 2, mitochondrial (hPanK2) (EC 2.7.1.33) (Pantothenic acid kinase 2)
  • Length: 570  
  • Mass: 62,681
  • Tissue specificity: Expressed in kidney, in proximal tubule epithelial cells. Expressed in colon cell lines. {ECO
• Sequence:

  MRRLGPFHPRVHWAAPPSLSSGLHRLLFLRGTRIPSSTTLSPPRHDSLSLDGGTVNPPRVREPTGREAFGPSPAS
  SDWLPARWRNGRGGRPRARLCSGWTAAEEARRNPTLGGLLGRQRLLLRMGGGRLGAPMERHGRASATSVSSAGEQ
  AAGDPEGRRQEPLRRRASSASVPAVGASAEGTRRDRLGSYSGPTSVSRQRVESLRKKRPLFPWFGLDIGGTLVKL
  VYFEPKDITAEEEEEEVESLKSIRKYLTSNVAYGSTGIRDVHLELKDLTLCGRKGNLHFIRFPTHDMPAFIQMGR
  DKNFSSLHTVFCATGGGAYKFEQDFLTIGDLQLCKLDELDCLIKGILYIDSVGFNGRSQCYYFENPADSEKCQKL
  PFDLKNPYPLLLVNIGSGVSILAVYSKDNYKRVTGTSLGGGTFFGLCCLLTGCTTFEEALEMASRGDSTKVDKLV
  RDIYGGDYERFGLPGWAVASSFGNMMSKEKREAVSKEDLARATLITITNNIGSIARMCALNENINQVVFVGNFLR
  INTIAMRLLAYALDYWSKGQLKALFSEHEGYFGAVGALLELLKIP

• Structural information:
  • Interpro: IPR004567  
  • PDB: 5000 0000 0000 0000 0664 3777 536
  • PDBsum: 5000 0000 0000 0000 0664 3777 536
  • STRING: ENSP00000313377
• Other Databases: GeneCards:  PANK2  Malacards:  PANK2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004594	pantothenate kinase activity	NAS	molecular function
GO:0004594	pantothenate kinase activity	TAS	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005739	mitochondrion	NAS	cellular component
GO:0005758	mitochondrial intermembrane space	TAS	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0007286	spermatid development	IEA	biological process
GO:0009060	aerobic respiration	IEA	biological process
GO:0009108	coenzyme biosynthetic process	TAS	biological process
GO:0015937	coenzyme A biosynthetic process	IEA	biological process
GO:0015937	coenzyme A biosynthetic process	NAS	biological process
GO:0015939	pantothenate metabolic process	NAS	biological process
GO:0016310	phosphorylation	NAS	biological process
GO:0019217	regulation of fatty acid metabolic process	IMP	biological process
GO:0051881	regulation of mitochondrial membrane potential	IEA	biological process
GO:0070584	mitochondrion morphogenesis	IEA	biological process
GO:0090207	regulation of triglyceride metabolic process	IMP	biological process
GO:1904251	regulation of bile acid metabolic process	IMP	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0004594	pantothenate kinase activity	IEA	molecular function
GO:0004594	pantothenate kinase activity	IEA	molecular function
GO:0004594	pantothenate kinase activity	IEA	molecular function
GO:0004594	pantothenate kinase activity	NAS	molecular function
GO:0004594	pantothenate kinase activity	TAS	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	NAS	cellular component
GO:0005758	mitochondrial intermembrane space	TAS	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0007286	spermatid development	IEA	biological process
GO:0009060	aerobic respiration	IEA	biological process
GO:0009108	coenzyme biosynthetic process	TAS	biological process
GO:0015937	coenzyme A biosynthetic process	IEA	biological process
GO:0015937	coenzyme A biosynthetic process	IEA	biological process
GO:0015937	coenzyme A biosynthetic process	IEA	biological process
GO:0015937	coenzyme A biosynthetic process	IEA	biological process
GO:0015937	coenzyme A biosynthetic process	NAS	biological process
GO:0015939	pantothenate metabolic process	NAS	biological process
GO:0016301	kinase activity	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0016310	phosphorylation	NAS	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0019217	regulation of fatty acid metabolic process	IMP	biological process
GO:0051881	regulation of mitochondrial membrane potential	IEA	biological process
GO:0070584	mitochondrion morphogenesis	IEA	biological process
GO:0090207	regulation of triglyceride metabolic process	IMP	biological process
GO:1904251	regulation of bile acid metabolic process	IMP	biological process
GO:0004594	pantothenate kinase activity	NAS	molecular function
GO:0004594	pantothenate kinase activity	TAS	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005739	mitochondrion	NAS	cellular component
GO:0005758	mitochondrial intermembrane space	TAS	cellular component
GO:0009108	coenzyme biosynthetic process	TAS	biological process
GO:0015937	coenzyme A biosynthetic process	NAS	biological process
GO:0015939	pantothenate metabolic process	NAS	biological process
GO:0016310	phosphorylation	NAS	biological process
GO:0019217	regulation of fatty acid metabolic process	IMP	biological process
GO:0090207	regulation of triglyceride metabolic process	IMP	biological process
GO:1904251	regulation of bile acid metabolic process	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways

Diseases

Associated diseases	References
Parkinson disease	GAD: 15843062
Congenital bilateral absence of the vas deferens (CBAVD)	MIK: 19095672
Core neuroacanthocytosis syndromes	KEGG: H00832
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Azoospermia	MIK: 15525657
Congenital bilateral absence of the vas deferens (CBAVD)	MIK: 19095672
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
19095672	Congenital bilateral absence of the vas deferens (CBAVD)		Taiwan	62 (26 CBAVD males, 20 azoospermic patients without CBAVD, 16 controls)	Male infertility	PBX1 BRD3 COL18A1 PANK2 CFTR and HMOX1
19095672	Congenital bilateral absence of the vas deferens		Taiwane se	66 (26 CBAVD males, 20 azoospermic patients without CBAVD, 16 controls)	Male infertility	PANK2 PBX1 BRD3 COL18A1 and HMOX1
15525657	Azoospermia				Male infertility
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881