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Tbio
TMEM107
Transmembrane protein 107

Protein Summary
Description
Plays a role in cilia formation and embryonic patterning. Requires for normal Sonic hedgehog (Shh) signaling in the neural tube and acts in combination with GLI2 and GLI3 to pattern ventral and intermediate neuronal cell types (By similarity). During ciliogenesis regulates the ciliary transition zone localization of some MKS complex proteins (PubMed:26518474). This gene encodes a transmembrane protein and component of the primary cilia transition zone. The encoded protein regulates ciliogenesis and ciliary protein composition. Human fibroblasts expressing a mutant allele of this gene exhibit reduced numbers of cilia, altered cilia length, and impaired sonic hedgehog signaling. In human patients, different mutations in this gene cause different ciliopathies, including Meckel-Gruber syndrome and orofaciodigital syndrome. [provided by RefSeq, May 2017]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000316425
  • ENSP00000314116
  • ENSG00000179029
  • ENST00000437139
  • ENSP00000402732
  • ENST00000533070
  • ENSP00000436674

Symbol
  • MKS13
  • JBTS29
  • GRVS638
  • PRO1268
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
transcription factor perturbation
0.88
transcription factor binding site profile
0.75
tissue sample
0.67
kinase perturbation
0.66
phenotype
0.65


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: 54.39   (req: < 5)
Gene RIFs: 3   (req: <= 3)
Antibodies: 39   (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: 54.39   (req: >= 5)
Gene RIFs: 3   (req: > 3)
Antibodies: 39   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 5
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