Official symbol | MTMR2 |
Gene id | 8898 |
Organism | Homo sapiens |
Official full symbol | myotubularin related protein 2 |
Gene type | protein-coding |
Also known as | CMT4B, CMT4B1 |
Summary | This gene is a member of the myotubularin family of phosphoinositide lipid phosphatases. The encoded protein possesses phosphatase activity towards phosphatidylinositol-3-phosphate and phosphatidylinositol-3,5-bisphosphate. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4B, an autosomal recessive demyelinating neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. |
Genomic regions | Chromosome 11 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
MTMR2-230 | ENST00000675362.1 | 4674 | 571aa | Protein coding | CCDS8306 | A0A024R3B7 | - | GENCODE basic, |
MTMR2-225 | ENST00000675174.1 | 4630 | 571aa | Protein coding | CCDS8306 | A0A024R3B7 | - | GENCODE basic, |
MTMR2-226 | ENST00000675196.1 | 4629 | 571aa | Protein coding | CCDS8306 | A0A024R3B7 | - | GENCODE basic, |
MTMR2-234 | ENST00000675477.1 | 4608 | 571aa | Protein coding | CCDS8306 | A0A024R3B7 | - | GENCODE basic, |
MTMR2-246 | ENST00000675933.1 | 4602 | 571aa | Protein coding | CCDS8306 | A0A024R3B7 | - | GENCODE basic, |
MTMR2-203 | ENST00000393223.8 | 4601 | 571aa | Protein coding | CCDS8306 | Q13614-2 | - | TSL:1, GENCODE basic, |
MTMR2-216 | ENST00000674924.1 | 4577 | 571aa | Protein coding | CCDS8306 | A0A024R3B7 | - | GENCODE basic, |
MTMR2-220 | ENST00000674989.1 | 4577 | 571aa | Protein coding | CCDS8306 | A0A024R3B7 | - | GENCODE basic, |
MTMR2-213 | ENST00000674528.1 | 4558 | 571aa | Protein coding | CCDS8306 | A0A024R3B7 | - | GENCODE basic, |
MTMR2-218 | ENST00000674968.1 | 4555 | 571aa | Protein coding | CCDS8306 | A0A024R3B7 | - | GENCODE basic, |
MTMR2-256 | ENST00000676378.1 | 4553 | 571aa | Protein coding | CCDS8306 | A0A024R3B7 | - | - |
MTMR2-260 | ENST00000676440.1 | 4506 | 571aa | Protein coding | CCDS8306 | A0A024R3B7 | - | GENCODE basic, |
MTMR2-248 | ENST00000675981.1 | 4504 | 571aa | Protein coding | CCDS8306 | A0A024R3B7 | - | GENCODE basic, |
MTMR2-251 | ENST00000676166.1 | 4504 | 571aa | Protein coding | CCDS8306 | A0A024R3B7 | - | GENCODE basic, |
MTMR2-201 | ENST00000346299.10 | 4495 | 643aa | Protein coding | CCDS8305 | Q13614-1 | NM_016156.6 | TSL:1, GENCODE basic, APPRIS P1, MANE Select v0.92, |
MTMR2-237 | ENST00000675636.1 | 4494 | 571aa | Protein coding | CCDS8306 | A0A024R3B7 | - | GENCODE basic, |
MTMR2-238 | ENST00000675652.1 | 4474 | 571aa | Protein coding | CCDS8306 | A0A024R3B7 | - | GENCODE basic, |
MTMR2-255 | ENST00000676272.1 | 4403 | 571aa | Protein coding | CCDS8306 | A0A024R3B7 | - | GENCODE basic, |
MTMR2-233 | ENST00000675454.1 | 4387 | 571aa | Protein coding | CCDS8306 | A0A024R3B7 | - | GENCODE basic, |
MTMR2-214 | ENST00000674610.1 | 4210 | 571aa | Protein coding | CCDS8306 | A0A024R3B7 | - | GENCODE basic, |
MTMR2-235 | ENST00000675489.1 | 3536 | 571aa | Protein coding | CCDS8306 | A0A024R3B7 | - | GENCODE basic, |
MTMR2-253 | ENST00000676261.1 | 3457 | 571aa | Protein coding | CCDS8306 | A0A024R3B7 | - | GENCODE basic, |
MTMR2-204 | ENST00000409459.5 | 3420 | 571aa | Protein coding | CCDS8306 | Q13614-2 | - | TSL:5, GENCODE basic, |
MTMR2-202 | ENST00000352297.11 | 3350 | 571aa | Protein coding | CCDS8306 | Q13614-2 | - | TSL:1, GENCODE basic, |
MTMR2-208 | ENST00000481642.6 | 2329 | 571aa | Protein coding | CCDS8306 | A0A024R3B7 | - | TSL:4, GENCODE basic, |
MTMR2-211 | ENST00000495134.6 | 2248 | 571aa | Protein coding | CCDS8306 | A0A024R3B7 | - | TSL:3, GENCODE basic, |
MTMR2-207 | ENST00000470293.6 | 2235 | 571aa | Protein coding | CCDS8306 | A0A024R3B7 | - | TSL:4, GENCODE basic, |
MTMR2-212 | ENST00000497683.6 | 2152 | 571aa | Protein coding | CCDS8306 | A0A024R3B7 | - | TSL:4, GENCODE basic, |
MTMR2-209 | ENST00000484818.6 | 2099 | 571aa | Protein coding | CCDS8306 | A0A024R3B7 | - | TSL:3, GENCODE basic, |
MTMR2-205 | ENST00000444541.7 | 2064 | 571aa | Protein coding | CCDS8306 | A0A024R3B7 C9JEX3 | - | TSL:5, |
MTMR2-249 | ENST00000676027.1 | 4781 | 527aa | Protein coding | - | - | - | GENCODE basic, |
MTMR2-239 | ENST00000675660.1 | 4747 | 527aa | Protein coding | - | - | - | GENCODE basic, |
MTMR2-242 | ENST00000675848.1 | 4741 | 527aa | Protein coding | - | - | - | GENCODE basic, |
MTMR2-228 | ENST00000675288.1 | 4641 | 527aa | Protein coding | - | - | - | GENCODE basic, |
MTMR2-221 | ENST00000675022.1 | 4323 | 581aa | Protein coding | - | - | - | GENCODE basic, |
MTMR2-241 | ENST00000675807.1 | 3459 | 527aa | Protein coding | - | - | - | GENCODE basic, |
MTMR2-232 | ENST00000675438.1 | 2824 | 540aa | Protein coding | - | - | - | GENCODE basic, |
MTMR2-223 | ENST00000675030.1 | 7939 | 86aa | Nonsense mediated decay | - | - | - | - |
MTMR2-243 | ENST00000675896.1 | 5108 | 69aa | Nonsense mediated decay | - | - | - | - |
MTMR2-217 | ENST00000674950.1 | 4974 | 91aa | Nonsense mediated decay | - | - | - | - |
MTMR2-219 | ENST00000674974.1 | 4705 | 86aa | Nonsense mediated decay | - | - | - | - |
MTMR2-245 | ENST00000675922.1 | 4670 | 89aa | Nonsense mediated decay | - | - | - | - |
MTMR2-244 | ENST00000675910.1 | 4657 | 69aa | Nonsense mediated decay | - | - | - | - |
MTMR2-252 | ENST00000676177.1 | 4632 | 69aa | Nonsense mediated decay | - | - | - | - |
MTMR2-229 | ENST00000675320.1 | 4582 | 91aa | Nonsense mediated decay | - | - | - | - |
MTMR2-257 | ENST00000676388.1 | 4519 | 89aa | Nonsense mediated decay | - | - | - | - |
MTMR2-254 | ENST00000676268.1 | 4505 | 225aa | Nonsense mediated decay | - | - | - | - |
MTMR2-250 | ENST00000676146.1 | 4396 | 91aa | Nonsense mediated decay | - | - | - | - |
MTMR2-206 | ENST00000470011.5 | 568 | No protein | Processed transcript | - | - | - | TSL:4, |
MTMR2-210 | ENST00000485988.1 | 533 | No protein | Processed transcript | - | - | - | TSL:4, |
MTMR2-259 | ENST00000676432.1 | 5542 | No protein | Retained intron | - | - | - | - |
MTMR2-222 | ENST00000675024.1 | 5511 | No protein | Retained intron | - | - | - | - |
MTMR2-227 | ENST00000675237.1 | 5503 | No protein | Retained intron | - | - | - | - |
MTMR2-224 | ENST00000675034.1 | 5499 | No protein | Retained intron | - | - | - | - |
MTMR2-215 | ENST00000674901.1 | 5478 | No protein | Retained intron | - | - | - | - |
MTMR2-236 | ENST00000675495.1 | 5412 | No protein | Retained intron | - | - | - | - |
MTMR2-247 | ENST00000675957.1 | 5402 | No protein | Retained intron | - | - | - | - |
MTMR2-240 | ENST00000675767.1 | 5392 | No protein | Retained intron | - | - | - | - |
MTMR2-258 | ENST00000676393.1 | 5376 | No protein | Retained intron | - | - | - | - |
MTMR2-231 | ENST00000675413.1 | 5301 | No protein | Retained intron | - | - | - | - |
Target Gene | MTMR2 |
This KO Strategy | loading |
Red Cotton™ Notes | Gene MTMR2 had been KO in hela cell line. |
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