| Gene Information | |
|---|---|
| Gene Name | DMD |
| Organism | Homo sapiens (Human) |
| Gene Length | 3685 |
| Protein Names | Dystrophin |
| Target Name | dystrophin |
| Target Type | Clinical trial target |
| Gene Age | 645 ( ENSG00000198947 ) |
| Evolutionary Stage | Eumetazoa |
| AlphaFoldDB | NA |
| Gene Card | DMD |
| Uniprot ID | P11532 |
| Pfam | PF00307; PF09068; PF09069; PF00435; PF00397; PF00569 |
| In ASD | yes |
| Allosteric Prediction | yes (1.00019328) |
| Ortholog in Animals | Alpaca_ DMD ( ortholog_one2one ) Dog_ DMD ( ortholog_one2one ) GuineaPig_ DMD ( ortholog_one2one ) Macaque_ DMD ( ortholog_one2one ) Mouse_ Dmd ( ortholog_one2one ) Rat_ Dmd ( ortholog_one2one ) |
| Ohnologs | UTRN |
| Paralogs | DSP, SPTBN5, ACTN4, MICAL2, SYNE3, GAS2L2, SPTBN2, FLNB, SPTAN1, SYNE2, PLEC, EPPK1, SYNE1, CLMN, DYTN, MICAL3, PKHD1, SMTNL2, DRP2, UTRN, PKHD1L1, ACTN2, ACTN3, MICAL1, SPTBN1, MACF1, ACTN1, DST, SPTB, GAS2L3, FLNC, FLNA, DTNA, SPTA1, DTNB, SPTBN4 |
| Tissue | NA |
| Tissue Specificity | Expressed in muscle fibers accumulating in the costameres of myoplasm at the sarcolemma. Expressed in brain, muscle, kidney, lung and testis. Most tissues contain transcripts of multiple isoforms. Isoform 15: Only isoform to be detected in heart and liver and is also expressed in brain, testis and hepatoma cells. {ECO:0000269|PubMed:1319059, ECO:0000269|PubMed:16000376, ECO:0000269|PubMed:8541829}. |
| 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 | 1DXX (X-ray 2.60A ) 1EG3 (X-ray 2.00A ) 1EG4 (X-ray 2.00A ) 3UUN (X-ray 2.30A ) |
| DBSNP | rs1800256 rs1800266 rs34155804 rs5972599 rs1800259 rs34563188 rs16998350 rs1800260 rs228406 rs3827462 rs1800262 rs1800269 rs1800270 rs1800263 rs28715870 rs1057872 rs16990264 rs1801187 rs1801186 rs16990169 rs1800273 rs1800275 rs41305353 rs1800278 rs1800279 rs1800280 |
| Subcellular location [CC] | Cell membrane, sarcolemma {ECO:0000250|UniProtKB:P11531}; Peripheral membrane protein {ECO:0000250|UniProtKB:P11531}; Cytoplasmic side {ECO:0000250|UniProtKB:P11531}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:P11531}. Postsynaptic cell membrane {ECO:0000250|UniProtKB:P11531}. Note=In muscle cells, sarcolemma localization requires the presence of ANK2, while localization to costameres requires the presence of ANK3. Localizes to neuromuscular junctions (NMJs). In adult muscle, NMJ localization depends upon ANK2 presence, but not in newborn animals. {ECO:0000250|UniProtKB:P11531}. |
| Mouse PG classification | HPG |
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