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Tbio
PEX12
Peroxisome assembly protein 12

Protein Summary
Description
Required for protein import into peroxisomes. This gene belongs to the peroxin-12 family. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000225873
  • ENSP00000225873
  • ENSG00000108733
  • ENST00000613219
  • ENSP00000482609

Symbol
  • PAF3
  • PAF-3
  • PBD3A
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
disease perturbation
0.9
transcription factor binding site profile
0.85
cellular component
0.71
transcription factor perturbation
0.68
phenotype
0.64


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: 39.92   (req: < 5)
Gene RIFs: 4   (req: <= 3)
Antibodies: 112   (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: 39.92   (req: >= 5)
Gene RIFs: 4   (req: > 3)
Antibodies: 112   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 8
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
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Expression Data (0 Tissues)
No expression data found
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
Thumbnail image for GENEVA
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.
ARCHS4
Thumbnail image for ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
No approved drugs found
Active Ligands (0)
No active ligands found
Protein-Protein Interactions (121)
PEX10
Tbio
Novelty:  0.0174463
Score:  0.999
Data Source:  Reactome,STRINGDB
PEX2
Tbio
Novelty:  0.01015599
Score:  0.998
Data Source:  Reactome,STRINGDB
PEX13
Tbio
Novelty:  0.01777214
Score:  0.998
Data Source:  Reactome,STRINGDB
PEX6
Tbio
Family:  Enzyme
Novelty:  0.00874708
Score:  0.996
Data Source:  Reactome,STRINGDB
PEX7
Tbio
Novelty:  0.01487923
Score:  0.994
Data Source:  Reactome,STRINGDB
PEX14
Tbio
Novelty:  0.0210557
Score:  0.994
Data Source:  Reactome,STRINGDB
PEX1
Tbio
Family:  Enzyme
Novelty:  0.08400632
Score:  0.993
Data Source:  Reactome,STRINGDB
PEX5
Tbio
Novelty:  0.00560901
Score:  0.988
Data Source:  Reactome,STRINGDB
PEX3
Tbio
Novelty:  0.01171119
Score:  0.985
Data Source:  STRINGDB
PEX26
Tbio
Novelty:  0.04606868
Score:  0.98
Data Source:  Reactome,STRINGDB
Nearest Tclin Targets
Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.
Pathways (8)
Class I peroxisomal membrane protein import (R-HSA-9603798)

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

Find Similar Targets
Items per page:
1 – 5 of 7
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Class I peroxisomal membrane protein import
Reactome
E3 ubiquitin ligases ubiquitinate target proteins
Reactome
Metabolism of proteins
Reactome
Peroxisomal protein import
Reactome
Post-translational protein modification
Name
Explore in Pharos
Explore in Source
Class I peroxisomal membrane protein import
E3 ubiquitin ligases ubiquitinate target proteins
Metabolism of proteins
Peroxisomal protein import
Post-translational protein modification
Viral Interactions (0)
No viral interactions found
Disease Associations ()
No disease associations found
GWAS Traits (16)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
reticulocyte count
7
8
20
99.4
mean platelet volume
4
7
8
99.3
platelet count
5
8
9
3.6
99.2
reticulocyte measurement
3
6
10
99.1
platelet crit
2
3
3
95.5
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
reticulocyte count
20
99.4
mean platelet volume
8
99.3
platelet count
9
3.6
99.2
reticulocyte measurement
10
99.1
platelet crit
3
95.5
Find similar targets by:
IDG Resources
No IDG generated resources found
Orthologs (13)
1 – 5 of 13
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
peroxisomal biogenesis factor 12
VGNC:9509
468219
Mouse
MGI:2144177
103737
Dog
peroxisomal biogenesis factor 12
VGNC:44429
491139
Horse
peroxisomal biogenesis factor 12
VGNC:21322
100058090
Cow
peroxisomal biogenesis factor 12
VGNC:32754
506007
Species
Name
OMA
EggNOG
Inparanoid
Chimp
peroxisomal biogenesis factor 12
Mouse
Dog
peroxisomal biogenesis factor 12
Horse
peroxisomal biogenesis factor 12
Cow
peroxisomal biogenesis factor 12
Publication Statistics
PubMed Score 39.92
PubMed score by year
PubTator Score 22.97
PubTator score by year
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Related Publications
Items per page:
0 of 0
PMID
Year
Title