Description
myotubularin related protein 2 [Source:HGNC Symbol;Acc:7450]
Gene Synonyms
CMT4B, CMT4B1, KIAA1073
Location
Chromosome 11: 95,566,046-95,658,479 reverse strand.
GRCh37:CM000673.1
About this gene
This gene has 15 transcripts (splice variants), 13 paralogues and is associated with 2 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000346299.5 | MTMR2-001 | 4681 | 643aa | ENSP00000345752.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS8305 | C9JEX3 Q13614 | NM_016156.5 | A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000393223.3 | MTMR2-201 | 4787 | 571aa | ENSP00000376915.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS8306 | C9JEX3 Q13614 | NM_201278.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000409459.1 | MTMR2-003 | 3420 | 571aa | ENSP00000386882.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS8306 | C9JEX3 Q13614 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000352297.7 | MTMR2-002 | 3350 | 571aa | ENSP00000343737.7 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS8306 | C9JEX3 Q13614 | NM_201281.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000444541.2 | MTMR2-004 | 2018 | 556aa | ENSP00000396020.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9JEX3 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000484818.1 | MTMR2-010 | 839 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000495134.1 | MTMR2-007 | 784 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000485740.1 | MTMR2-009 | 713 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000470011.1 | MTMR2-005 | 568 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000497683.1 | MTMR2-012 | 557 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000481642.1 | MTMR2-013 | 544 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000470293.1 | MTMR2-011 | 540 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000485988.1 | MTMR2-006 | 533 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000472423.1 | MTMR2-014 | 526 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000469574.1 | MTMR2-008 | 427 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - |
