PANK2

Protein identityUniProt · HPA

UniProt accession

Q9BZ23

Gene

PANK2

Ensembl

ENSG00000125779

Chromosome

20

Canonical length

570 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Cytosol

Quaternary structure

Homodimer

OverviewNCBI Gene

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 cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by acyl CoA species. Mutations in this gene are associated with HARP syndrome and pantothenate kinase-associated neurodegeneration (PKAN), formerly Hallervorden-Spatz syndrome. Alternative splicing, involving the use of alternate first exons, results in multiple transcripts encoding different isoforms. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

570 residues, UniProt reviewed canonical sequence.

>Q9BZ23|PANK2
     1  MRRLGPFHPR VHWAAPPSLS SGLHRLLFLR GTRIPSSTTL SPPRHDSLSL DGGTVNPPRV
    61  REPTGREAFG PSPASSDWLP ARWRNGRGGR PRARLCSGWT AAEEARRNPT LGGLLGRQRL
   121  LLRMGGGRLG APMERHGRAS ATSVSSAGEQ AAGDPEGRRQ EPLRRRASSA SVPAVGASAE
   181  GTRRDRLGSY SGPTSVSRQR VESLRKKRPL FPWFGLDIGG TLVKLVYFEP KDITAEEEEE
   241  EVESLKSIRK YLTSNVAYGS TGIRDVHLEL KDLTLCGRKG NLHFIRFPTH DMPAFIQMGR
   301  DKNFSSLHTV FCATGGGAYK FEQDFLTIGD LQLCKLDELD CLIKGILYID SVGFNGRSQC
   361  YYFENPADSE KCQKLPFDLK NPYPLLLVNI GSGVSILAVY SKDNYKRVTG TSLGGGTFFG
   421  LCCLLTGCTT FEEALEMASR GDSTKVDKLV RDIYGGDYER FGLPGWAVAS SFGNMMSKEK
   481  REAVSKEDLA RATLITITNN IGSIARMCAL NENINQVVFV GNFLRINTIA MRLLAYALDY
   541  WSKGQLKALF SEHEGYFGAV GALLELLKIP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PANK2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.42

Highest tissue expression

24 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PANK2.

Disease | AllUniProt

Conditions PANK2 is implicated in, by any mechanism.

• Neurodegeneration with brain iron accumulation 1 (NBIA1) MIM:234200

Disease | GeneticClinVar

139 pathogenic / likely-pathogenic of 803 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Pigmentary pallidal degeneration
• Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
• Inborn genetic diseases
• Retinitis pigmentosa
• Neurodegeneration

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.97

gnomAD pLI

0

gnomAD missense Z

0.18

DepMap mean gene effect

-0.05

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 10% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• aerobic respiration
• angiogenesis
• coenzyme A biosynthetic process
• mitochondrion organization
• pantothenate metabolic process
• regulation of bile acid metabolic process
• regulation of fatty acid metabolic process
• regulation of mitochondrial membrane potential
• regulation of triglyceride metabolic process
• spermatid development

Molecular functions

• ATP binding
• pantothenate kinase activity

Cellular components

• cytosol
• mitochondrial intermembrane space
• mitochondrion
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Type II pantothenate kinase
• ATPase, nucleotide binding domain
• Fumble

KeywordsUniProt

• Alternative initiation
• Angiogenesis
• ATP-binding
• Coenzyme A biosynthesis
• Cytoplasm
• Kinase
• Mitochondrion
• Neurodegeneration
• Nucleotide-binding
• Nucleus
• Phosphoprotein
• Transferase
• Transit peptide

InteractionsUniProt · HPA

Protein binding partners of PANK2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• YWHAE
• YWHAG
• YWHAQ