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Tbio
PRX
Periaxin

Protein Summary
Description
Scaffolding protein that functions as part of a dystroglycan complex in Schwann cells, and as part of EZR and AHNAK-containing complexes in eye lens fiber cells. Required for the maintenance of the peripheral myelin sheath that is essential for normal transmission of nerve impulses and normal perception of sensory stimuli. Required for normal transport of MBP mRNA from the perinuclear to the paranodal regions. Required for normal remyelination after nerve injury. Required for normal elongation of Schwann cells and normal length of the internodes between the nodes of Ranvier. The demyelinated nodes of Ranvier permit saltatory transmission of nerve impulses; shorter internodes cause slower transmission of nerve impulses. Required for the formation of appositions between the abaxonal surface of the myelin sheath and the Schwann cell plasma membrane; the Schwann cell cytoplasm is restricted to regions between these appositions. Required for the formation of Cajal bands and of Schmidt-Lante ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000291825
  • ENSP00000291825
  • ENSG00000105227
  • ENST00000324001
  • ENSP00000326018

Symbol
  • KIAA1620
  • CMT4F
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
cell type or tissue
0.67
tissue sample
0.63
cell line
0.58
phenotype
0.55
cellular component
0.54


Related Tools
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
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
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
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: 55.25   (req: < 5)
Gene RIFs: 15   (req: <= 3)
Antibodies: 58   (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: 55.25   (req: >= 5)
Gene RIFs: 15   (req: > 3)
Antibodies: 58   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 2
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 (1)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
1
1
0
1.8
28.6
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
0
1.8
28.6
Orthologs (10)
1 – 5 of 10
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
periaxin
VGNC:12069
737729
Macaque
periaxin
702329
Mouse
MGI:108176
19153
Rat
RGD:619960
78960
Dog
periaxin
VGNC:45079
484501
Species
Name
OMA
EggNOG
Inparanoid
Chimp
periaxin
Macaque
periaxin
Mouse
Rat
Dog
periaxin
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-Q9BXM0-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
Gene Ontology Terms (7)
Items per page:
10
1 – 5 of 5
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Biological aspect of Ancestor (IBA)
GO_Central
Inferred from Biological aspect of Ancestor (IBA)
GO_Central
Inferred from Electronic Annotation (IEA)
UniProtKB-SubCell
Protein-Protein Interactions (42)
1 – 10 of 42
DRP2
Tbio
Novelty: 0.15252692
Score: 0.967
Data Source: STRINGDB
EGR2
Tbio
Family: TF
Novelty: 0.00215433
Score: 0.794
Data Source: STRINGDB
MPZ
Tbio
Novelty: 0.00223212
Score: 0.758
Data Source: STRINGDB
PMP2
Tbio
Novelty: 0.00428146
Score: 0.722
Data Source: STRINGDB
GJB1
Tbio
Novelty: 0.00109019
Score: 0.716
Data Source: STRINGDB
PMP22
Tbio
Novelty: 0.00256307
Score: 0.676
Data Source: STRINGDB
SH3TC2
Tbio
Novelty: 0.0205934
Score: 0.674
Data Source: STRINGDB
GDAP1
Tbio
Novelty: 0.00682376
Score: 0.669
Data Source: STRINGDB
SBF2
Tbio
Novelty: 0.02647873
Score: 0.655
Data Source: STRINGDB
MTMR2
Tbio
Family: Enzyme
Novelty: 0.01403122
Score: 0.651
Data Source: STRINGDB
Publication Statistics
PubMed Score  55.25

PubMed score by year
PubTator Score  196.71

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