| Tbio | SH3 and cysteine-rich domain-containing protein 3 |
In skeletal muscles contraction, may play a role in neuromuscular synaptic transmission.
The protein encoded by this gene is a component of the excitation-contraction coupling machinery of muscles. This protein is a member of the Stac gene family and contains an N-terminal cysteine-rich domain and two SH3 domains. Mutations in this gene are a cause of Native American myopathy. [provided by RefSeq, Nov 2013]
The protein encoded by this gene is a component of the excitation-contraction coupling machinery of muscles. This protein is a member of the Stac gene family and contains an N-terminal cysteine-rich domain and two SH3 domains. Mutations in this gene are a cause of Native American myopathy. [provided by RefSeq, Nov 2013]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Hepatomegaly | 285 | 0.0 | 0.0 |
| Liver Cirrhosis, Experimental | 769 | 0.0 | 0.0 |
| Liver neoplasms | 130 | 0.0 | 0.0 |
| Native American myopathy | 4 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| tuberculosis | 2010 | 4.5e-08 |
MTEKEVLESPKPSFPAETRQSGLQRLKQLLRKGSTGTKEMELPPEPQANGEAVGAGGGPIYYIYEEEEEE 1 - 70 EEEEEEPPPEPPKLVNDKPHKFKDHFFKKPKFCDVCARMIVLNNKFGLRCKNCKTNIHEHCQSYVEMQRC 71 - 140 FGKIPPGFHRAYSSPLYSNQQYACVKDLSAANRNDPVFETLRTGVIMANKERKKGQADKKNPVAAMMEEE 141 - 210 PESARPEEGKPQDGNPEGDKKAEKKTPDDKHKQPGFQQSHYFVALYRFKALEKDDLDFPPGEKITVIDDS 211 - 280 NEEWWRGKIGEKVGFFPPNFIIRVRAGERVHRVTRSFVGNREIGQITLKKDQIVVQKGDEAGGYVKVYTG 281 - 350 RKVGLFPTDFLEEI 351 - 364 //
