Gene Information | |
---|---|
Gene Name | DMN |
Organism | Homo sapiens (Human) |
Gene Length | 1565 |
Protein Names | Synemin (Desmuslin) |
Target Name | NA |
Target Type | NA |
Gene Age | NA |
Evolutionary Stage | NA |
AlphaFoldDB | O15061 |
Gene Card | SYNM |
Uniprot ID | O15061 |
Pfam | PF00038 |
In ASD | no |
Allosteric Prediction | NA |
Ortholog in Animals | NA |
Ohnologs | NA |
Paralogs | NA |
Tissue | NA |
Tissue Specificity | Isoform 2 is strongly detected in adult heart, fetal skeletal muscles and fetal heart. Isoform 1 is weakly detected in fetal heart and also in fetal skeletal muscle. Isoform 1 and isoform 2 are detected in adult bladder (at protein level). The mRNA is predominantly expressed in heart and muscle with some expression in brain which may be due to tissue-specific isoforms. {ECO:0000269|PubMed:11353857, ECO:0000269|PubMed:11737198}. |
Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);NULL(Rat);0.04(Rabbit) |
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 | 6EWO (X-ray 2.30A ) |
DBSNP | rs2305445 rs5030691 rs3743242 rs3134595 rs3743244 rs5030692 rs3743247 rs5030694 rs5030695 rs5030697 rs5030698 rs5030699 rs9920074 rs7167599 rs2292288 rs2292287 |
Subcellular location [CC] | Cytoplasm, cytoskeleton. Cell junction, adherens junction. Note=There are at least two distinct SYNM subpopulations, one in which SYMN interacts with DES within the Z-lines, and another in which it interacts with both DTNA and DES at the costamere. |
Mouse PG classification | NA |
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