Protein Summary
Necessary for correct organization of Golgi apparatus. Involved in bone development. This gene encodes a protein which regulates Golgi-associated secretory pathways that are essential to endochondral bone formation during early development. This gene is also believed to play a role in early brain development. This gene is widely expressed in embryos and is particularly abundant in chodrocytes and brain tissues. It encodes a peripheral membrane protein which shuttles between the cytosol and Golgi complex. Mutations in this gene are associated with two types of recessive osteochondrodysplasia: Dyggve-Melchior-Clausen (DMC) dysplasia and Smith-McCort (SMC) dysplasia. [provided by RefSeq, Jun 2017]
- ENST00000269445
- ENSP00000269445
- ENSG00000141627
- ENST00000442713
- ENSP00000395942
- DMC
- SMC
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
---|---|---|---|
kinase perturbation | 1 | ||
virus perturbation | 0.92 | ||
disease perturbation | 0.87 | ||
histone modification site profile | 0.76 | ||
transcription factor binding site profile | 0.75 | ||
Protein Classes
IDG Development Level Summary
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: 68.45 (req: < 5)
Gene RIFs: 11 (req: <= 3)
Antibodies: 119 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 68.45 (req: >= 5)
Gene RIFs: 11 (req: > 3)
Antibodies: 119 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 3
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligand: 0
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 0