| Gene Information | |
|---|---|
| Gene Name | DTNBP2 |
| Organism | Homo sapiens (Human) |
| Gene Length | 4069 |
| Protein Names | Cardiomyopathy-associated protein 5 (Dystrobrevin-binding protein 2) (Genethonin-3) (Myospryn) (SPRY domain-containing protein 2) (Tripartite motif-containing protein 76) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | NA |
| Gene Card | CMYA5 |
| Uniprot ID | Q8N3K9 |
| Pfam | PF00041 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Expressed in skeletal muscle; at a strong level and in heart. {ECO:0000269|PubMed:11297942}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | NA |
| DBSNP | rs16877109 rs6895605 rs10942901 rs1366271 rs16877124 rs57544556 rs6893869 rs4704585 rs16877133 rs16877135 rs13158477 rs1428223 rs1428224 rs1019762 rs16877141 rs1428225 rs16877147 rs16877150 rs16877151 rs6859595 rs7721884 rs28362541 rs2278239 rs2278240 rs3828611 rs12514461 rs1129770 rs10043986 |
| Subcellular location [CC] | Nucleus {ECO:0000250|UniProtKB:A0A286XF80}. Sarcoplasmic reticulum {ECO:0000250|UniProtKB:A0A286XF80}. Cytoplasm {ECO:0000250|UniProtKB:Q70KF4}. Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:A0A286XF80}. Cytoplasm, myofibril, sarcomere, M line {ECO:0000269|PubMed:20634290}. Note=Found predominantly at the periphery of the nucleus but also throughout the cell. Localized in lysosomes (By similarity). In skeletal muscles, localizes along myofiber periphery, at costameres (By similarity). Predominantly flanks Z-disks (By similarity). Occasionally present at the M-band level. Colocalized with RYR2 in the sarcoplasmic reticulum (By similarity). {ECO:0000250|UniProtKB:A0A286XF80}. |
| Mouse PG classification | NA |
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