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Tbio
MKLN1
Muskelin

Protein Summary
Description
Component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1 (PubMed:29911972). Required for internalization of the GABA receptor GABRA1 from the cell membrane via endosomes and subsequent GABRA1 degradation (By similarity). Acts as a mediator of cell spreading and cytoskeletal responses to the extracellular matrix component THBS1 (PubMed:18710924). Muskelin is an intracellular protein that acts as a mediator of cell spreading and cytoskeletal responses to the extracellular matrix component thrombospondin I (MIM 188060) (Adams et al., 1998 [PubMed 9724633]).[supplied by OMIM, Mar 2008]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000352689
  • ENSP00000323527
  • ENSG00000128585

Symbol
  • TWA2
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
transcription factor perturbation
0.96
trait
0.93
protein domain
0.85
microRNA
0.84
transcription factor binding site profile
0.84


Protein Classes
No PANTHER Classes or DTO Classes found
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: 28.21   (req: < 5)
Gene RIFs: 4   (req: <= 3)
Antibodies: 138   (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: 28.21   (req: >= 5)
Gene RIFs: 4   (req: > 3)
Antibodies: 138   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 6
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)
Thumbnail image for 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
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 (104)
RMND5A
Tbio
Novelty:  0.01820349
p_int:  0.999375063
p_ni:  0.000624937
Score:  0.928
Data Source:  BioPlex,STRINGDB
GCG
Tchem
Novelty:  0.00004879
p_int:  0.999144602
p_ni:  0.000855398
Data Source:  BioPlex
SPON1
Tbio
Novelty:  0.01071398
p_int:  0.99603597
p_ni:  0.00396403
Data Source:  BioPlex
BMP1
Tchem
Novelty:  0.00299518
p_int:  0.99583041
p_ni:  0.00416959
Data Source:  BioPlex
PRG3
Tbio
Novelty:  0.09431986
p_int:  0.995699348
p_ni:  0.004300652
Data Source:  BioPlex
INSL6
Tdark
Novelty:  0.06986187
p_int:  0.986460863
p_ni:  0.013539137
Data Source:  BioPlex
TDGF1
Tbio
Novelty:  0.00527099
p_int:  0.969673768
p_ni:  0.030326232
Score:  0.303
Data Source:  BioPlex,STRINGDB
PIGT
Tbio
Family:  Enzyme
Novelty:  0.02539879
p_int:  0.968315232
p_ni:  0.031684768
Data Source:  BioPlex
LAD1
Tbio
Novelty:  0.03059679
p_int:  0.96203996
p_ni:  0.03796004
Data Source:  BioPlex
CCDC120
Tbio
Novelty:  0.48574876
p_int:  0.96121346
p_ni:  0.03878654
Data Source:  BioPlex
Nearest Tclin Targets
Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.
Viral Interactions (0)
No viral interactions found
Disease Associations ()
No disease associations found
GWAS Traits (18)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
balding measurement
1
2
2
92.7
lymphocyte count
2
2
2
85.8
platelet crit
2
1
2
82.3
neutrophil count
2
2
2
82
puberty onset measurement
3
1
3
81.1
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
balding measurement
2
92.7
lymphocyte count
2
85.8
platelet crit
2
82.3
neutrophil count
2
82
puberty onset measurement
3
81.1
Find similar targets by:
IDG Resources
No IDG generated resources found
Orthologs (15)
1 – 5 of 15
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
muskelin 1
VGNC:14046
463733
Macaque
muskelin 1
704338
Mouse
MGI:1351638
27418
Rat
RGD:620076
83536
Dog
muskelin 1
VGNC:43250
607643
Species
Name
OMA
EggNOG
Inparanoid
Chimp
muskelin 1
Macaque
muskelin 1
Mouse
Rat
Dog
muskelin 1
Publication Statistics
PubMed Score 28.21
PubMed score by year
PubTator Score 12.37
PubTator score by year
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Related Publications
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PMID
Year
Title