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Tbio
PANK2
Pantothenate kinase 2, mitochondrial

Protein Summary
Description
May be the master regulator of the CoA biosynthesis. 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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000316562
  • ENSP00000313377
  • ENSG00000125779
  • ENST00000497424
  • ENSP00000417609
  • ENST00000610179
  • ENSP00000477429
  • ENST00000621507
  • ENSP00000481523

Symbol
  • C20orf48
  • HSS
  • HARP
  • PKAN
  • NBIA1
  • C20orf48
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
molecular function
0.88
transcription factor binding site profile
0.81
cell type or tissue
0.79
biological process
0.75
transcription factor
0.66


Related Tools
Target Illumination GWAS Analytics (TIGA)
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TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
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GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 239.34   (req: < 5)
Gene RIFs: 53   (req: <= 3)
Antibodies: 324   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 239.34   (req: >= 5)
Gene RIFs: 53   (req: > 3)
Antibodies: 324   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 13
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (3)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
mean corpuscular volume
1
1
1
65.9
mean reticulocyte volume
1
1
1
63.1
aspartate aminotransferase measurement
1
1
0
5.6
21.5
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
mean corpuscular volume
1
65.9
mean reticulocyte volume
1
63.1
aspartate aminotransferase measurement
0
5.6
21.5
Orthologs (8)
1 – 5 of 8
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
pantothenate kinase 2
VGNC:14273
458070
Macaque
pantothenate kinase 2
717639
Mouse
MGI:1921700
74450
Rat
RGD:1305169
296167
Dog
pantothenate kinase 2
VGNC:54724
477168
Species
Name
OMA
EggNOG
Inparanoid
Chimp
pantothenate kinase 2
Macaque
pantothenate kinase 2
Mouse
Rat
Dog
pantothenate kinase 2
Protein Structure (1 Structure, 1 AlphaFold Model)
RepresentationColor Scheme

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AF-Q9BZ23-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 1 of 1
PDB Structure Id
Ligand
Method
Resolution (Å)
Residues
Fraction of Total Protein
Pub Year
Title
PDB Structure Id
Fraction of Total Protein
Resolution
Pub Year
Pathways (12)
Coenzyme A biosynthesis (R-HSA-196783)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 5 of 5
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Coenzyme A biosynthesis
Reactome
Metabolism
Reactome
Metabolism of vitamins and cofactors
Reactome
Metabolism of water-soluble vitamins and cofactors
Reactome
Vitamin B5 (pantothenate) metabolism
Name
Explore in Pharos
Explore in Source
Coenzyme A biosynthesis
Metabolism
Metabolism of vitamins and cofactors
Metabolism of water-soluble vitamins and cofactors
Vitamin B5 (pantothenate) metabolism
Gene Ontology Terms (17)
Items per page:
10
1 – 2 of 2
GO Term
Evidence
Assigned by
Traceable Author Statement (TAS)
Reactome
Inferred from Electronic Annotation (IEA)
UniProtKB-KW
Protein-Protein Interactions (60)
1 – 10 of 60
PANK3
Tchem
Family:  Kinase
Novelty:  0.06969329
p_int:  0.999999997
p_wrong:  3e-9
Data Source:  BioPlex
SAT2
Tbio
Family:  Enzyme
Novelty:  0.10019856
p_int:  0.999999647
p_ni:  1.03e-7
p_wrong:  2.5e-7
Score:  0.685
Data Source:  BioPlex,STRINGDB
SCD
Tchem
Family:  Enzyme
Novelty:  0.00063325
p_int:  0.999953738
p_ni:  0.000046262
Data Source:  BioPlex
UBB
Tbio
Novelty:  0.00661254
p_int:  0.998405202
p_ni:  0.001594798
Score:  0.178
Data Source:  BioPlex,STRINGDB
HSPA8
Tchem
Novelty:  0.00081014
p_int:  0.851427099
p_ni:  0.148572901
Data Source:  BioPlex
NECTIN2
Tbio
Novelty:  0.00910836
p_int:  0.805291531
p_ni:  0.194708468
p_wrong:  1e-9
Score:  0.219
Data Source:  BioPlex,STRINGDB
COASY
Tbio
Family:  Enzyme
Novelty:  0.00294867
Score:  0.985
Data Source:  STRINGDB
PPCDC
Tbio
Family:  Enzyme
Novelty:  0.0322534
Score:  0.971
Data Source:  STRINGDB
PPCS
Tbio
Family:  Enzyme
Novelty:  0.03813202
Score:  0.961
Data Source:  STRINGDB
ENPP3
Tchem
Family:  Enzyme
Novelty:  0.00414129
Score:  0.902
Data Source:  STRINGDB
Publication Statistics
PubMed Score  239.34

PubMed score by year
PubTator Score  254.86

PubTator score by year
Patents
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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