PANK2

GENE INFORMATION

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Gene name

PANK2 (HGNC Symbol)

Synonyms

C20orf48, FLJ11729, HARP, HSS, NBIA1, PKAN

Description

Pantothenate kinase 2 (HGNC Symbol)

Entrez gene summary

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]

Chromosome

20

Cytoband

p13

Chromosome location (bp)

3888839 - 3929882

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000125779 (version 78.38)

Entrez gene

80025

UniProt

Q9BZ23 (UniProt - Evidence at protein level)

neXtProt

NX_Q9BZ23

Antibodypedia

PANK2 antibodies
 

PROTEIN VIEW

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PANK2-001
 
PANK2-003
 
PANK2-007
 
PANK2-008
 
PANK2-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PANK2-001 ENSP00000417609
ENST00000497424
Q9BZ23
Show all »
Show » Show » 279 30.8 No 0
PANK2-003 ENSP00000476745
ENST00000495692
V9GYH1
Show all »
Show » Show » 115 12.8 No 0
PANK2-007 ENSP00000313377
ENST00000316562
Q9BZ23
Show all »
Show » Show » 570 62.7 No 0
PANK2-008 ENSP00000477429
ENST00000610179
Q9BZ23
Show all »
Show » Show » 447 49.1 No 0
PANK2-201 ENSP00000481523
ENST00000621507
Q9BZ23
Show all »
Show » Show » 279 30.8 No 0