Entrez Gene ID | 9172 |
---|---|
Official Gene Symbol | MYOM2 (GeneCards) |
Full name | myomesin 2 |
Location | 8p23.3 |
Other ids | Vega : OTTHUMG00000129175 MIM : 603509 HGNC : HGNC:7614 Ensembl : ENSG00000036448 |
Other names | TTNAP |
Summary | The giant protein titin, together with its associated proteins, interconnects the major structure of sarcomeres, the M bands and Z discs. The C-terminal end of the titin string extends into the M line, where it binds tightly to M-band constituents of apparent molecular masses of 190 kD and 165 kD. The predicted MYOM2 protein contains 1,465 amino acids. Like MYOM1, MYOM2 has a unique N-terminal domain followed by 12 repeat domains with strong homology to either fibronectin type III or immunoglobulin C2 domains. Protein sequence comparisons suggested that the MYOM2 protein and bovine M protein are identical. [provided by RefSeq, Jul 2008] |
Found 12 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
801 | 9172 | MYOM2 | 8 | 2037867 | 2037867 | Human Skin Fibroblasts | HiSeq 2500 |
11785 | 9172 | MYOM2 | 8 | 2085721 | 2085721 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
11800 | 9172 | MYOM2 | 8 | 2289922 | 2289922 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
11947 | 9172 | MYOM2 | 8 | 2121386 | 2121386 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
12011 | 9172 | MYOM2 | 8 | 2320051 | 2320051 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
12089 | 9172 | MYOM2 | 8 | 2255713 | 2255713 | HiSeq 2500 HiSeq X Ten | |
12319 | 9172 | MYOM2 | 8 | 2095637 | 2095637 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
12374 | 9172 | MYOM2 | 8 | 2037900 | 2037900 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
12462 | 9172 | MYOM2 | 8 | 2100739 | 2100739 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
12554 | 9172 | MYOM2 | 8 | 2384315 | 2384315 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
12687 | 9172 | MYOM2 | 8 | 2175743 | 2175743 | Cockayne syndrome | HiSeq 2500 HiSeq X Ten |
23319 | 9172 | MYOM2 | 8 | 2065666 | 2065666 | Asymptomatic | HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning |