TMEM185A
Transmembrane protein 185A
Protein Summary
The protein encoded by this gene is predicted to be a transmembrane protein. This gene is best known for localizing to the CpG island of the fragile site FRAXF. The 5' untranslated region of this gene contains a CGG trinucleotide repeat sequence that normally consists of 7-40 tandem CGG repeats but which can expand to greater than 300 repeats. Methylation of the CpG island leads to transcriptional silencing of this gene, but neither the silencing nor an expanded repeat region appear to manifest itself in a clear phenotypic manner. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on the X chromosome. [provided by RefSeq, Aug 2013]
- ENST00000600449
- ENSP00000471932
- ENSG00000269556
- CXorf13
- FAM11A
- ee3
- FRAXF
- FAM11A
- CXorf13
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
|---|---|---|---|
cell type or tissue | 0.87 | ||
disease perturbation | 0.68 | ||
tissue sample | 0.6 | ||
histone modification site profile | 0.59 | ||
transcription factor | 0.52 | ||
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: 19.85 (req: < 5)
Gene RIFs: 3 (req: <= 3)
Antibodies: 45 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 19.85 (req: >= 5)
Gene RIFs: 3 (req: > 3)
Antibodies: 45 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Term: 0
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