| Gene Information | |
|---|---|
| Gene Name | TIGR |
| Organism | Homo sapiens (Human) |
| Gene Length | 504 |
| Protein Names | Myocilin (Myocilin 55 kDa subunit) (Trabecular meshwork-induced glucocorticoid response protein) [Cleaved into: Myocilin, N-terminal fragment (Myocilin 20 kDa N-terminal fragment); Myocilin, C-terminal fragment (Myocilin 35 kDa N-terminal fragment)] |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | Q99972 |
| Gene Card | MYOC |
| Uniprot ID | Q99972 |
| Pfam | PF02191 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Detected in aqueous humor (PubMed:12697062). Detected in the eye (at protein level) (PubMed:11431441). Widely expressed. Highly expressed in various types of muscle, ciliary body, papillary sphincter, skeletal muscle, heart, and bone marrow-derived mesenchymal stem cells. Expressed predominantly in the retina. In normal eyes, found in the inner uveal meshwork region and the anterior portion of the meshwork. In contrast, in many glaucomatous eyes, it is found in more regions of the meshwork and seems to be expressed at higher levels than in normal eyes, regardless of the type or clinical severity of glaucoma. The myocilin 35 kDa fragment is detected in aqueous humor and to a lesser extent in iris and ciliary body. {ECO:0000269|PubMed:11431441, ECO:0000269|PubMed:12697062, ECO:0000269|PubMed:15795224}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
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| PDB | 4WXQ (X-ray 2.15A ) 4WXS (X-ray 1.90A ) 4WXU (X-ray 2.09A ) 6OU0 (X-ray 1.80A ) 6OU1 (X-ray 1.88A ) 6OU2 (X-ray 1.96A ) 6OU3 (X-ray 1.80A ) 6PKD (X-ray 1.90A ) 6PKE (X-ray 1.88A ) 6PKF (X-ray 1.48A ) |
| DBSNP | rs199752860 rs745439002 rs2234925 rs755246983 rs74315339 rs200208925 rs561439247 rs2234926 rs764005392 rs201552559 rs200120115 rs199746824 rs144579767 rs2234927 rs531050114 rs757769997 rs74315340 rs74315341 rs982896610 rs1351328951 rs139122673 rs748621461 rs146391864 rs74315335 rs1572210748 rs61745146 rs137853277 rs1344039930 rs121909193 rs74315334 rs74315330 rs566289099 rs121909194 rs998968146 rs56314834 rs28936694 rs1351097164 rs751113505 rs201573718 rs74315336 rs754237376 rs74315338 rs1200513428 rs74315328 rs140967767 rs771122834 rs750791099 rs554235897 rs74315331 rs74315331 rs74315332 rs145977437 |
| Subcellular location [CC] | Secreted {ECO:0000269|PubMed:11431441, ECO:0000269|PubMed:12697062, ECO:0000269|PubMed:19287508, ECO:0000269|PubMed:9497363}. Golgi apparatus {ECO:0000269|PubMed:11053284}. Cytoplasmic vesicle {ECO:0000269|PubMed:11431441}. Secreted, extracellular space. Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:11773026, ECO:0000305|PubMed:11431441}. Secreted, extracellular exosome {ECO:0000269|PubMed:15944158}. Mitochondrion {ECO:0000269|PubMed:17516541}. Mitochondrion intermembrane space {ECO:0000269|PubMed:17516541}. Mitochondrion inner membrane {ECO:0000269|PubMed:17516541}. Mitochondrion outer membrane {ECO:0000269|PubMed:17516541}. Rough endoplasmic reticulum {ECO:0000269|PubMed:19287508}. Cell projection. Cell projection, cilium {ECO:0000269|PubMed:9169133}. Note=Located preferentially in the ciliary rootlet and basal body of the connecting cilium of photoreceptor cells, and in the rough endoplasmic reticulum (PubMed:9169133). It is only imported to mitochondria in the trabecular meshwork (PubMed:17516541). Localizes to the Golgi apparatus in Schlemm's canal endothelial cells (PubMed:11053284). Appears in the extracellular space of trabecular meshwork cells by an unconventional mechanism, likely associated with exosome-like vesicles (PubMed:15944158). Localizes in trabecular meshwork extracellular matrix (PubMed:15944158). {ECO:0000269|PubMed:11053284, ECO:0000269|PubMed:15944158, ECO:0000269|PubMed:17516541, ECO:0000269|PubMed:9169133}.; [Myocilin, C-terminal fragment]: Secreted.; [Myocilin, N-terminal fragment]: Endoplasmic reticulum. Note=Remains retained in the endoplasmic reticulum. |
| Mouse PG classification | NA |
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