Description
protein-O-mannosyltransferase 2 [Source:HGNC Symbol;Acc:19743]
Gene Synonyms
LGMD2N, MDDGA2, MDDGB2, MDDGC2
Location
Chromosome 14: 77,741,299-77,787,227 reverse strand.
GRCh37:CM000676.1
About this gene
This gene has 23 transcripts (splice variants), 1 paralogue and is associated with 10 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000261534.4 | POMT2-001 | 4876 | 750aa | ENSP00000261534.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS9857 | G3V4X9 Q9UKY4 | NM_013382.5 | 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, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000556394.1 | POMT2-022 | 693 | 102aa | ENSP00000451967.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000556171.1 | POMT2-018 | 580 | 193aa | ENSP00000451651.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, | |
| ENST00000554948.1 | POMT2-005 | 565 | 137aa | ENSP00000452060.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V4X9 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000556326.1 | POMT2-002 | 948 | 82aa | ENSP00000450630.1 | Nonsense mediated decay | Q9UKY4 | - | - | |
| ENST00000555710.1 | POMT2-019 | 575 | 75aa | ENSP00000451730.1 | Nonsense mediated decay | H0YJK9 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000557289.1 | POMT2-011 | 355 | 52aa | ENSP00000451115.1 | Nonsense mediated decay | H0YJA9 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000556880.1 | POMT2-008 | 681 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000602717.1 | POMT2-023 | 662 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000557675.1 | POMT2-012 | 575 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000553863.1 | POMT2-009 | 564 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000554884.1 | POMT2-015 | 549 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000555788.1 | POMT2-006 | 470 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000452340.3 | POMT2-003 | 5647 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000554767.1 | POMT2-004 | 5457 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000555134.1 | POMT2-021 | 873 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000554564.1 | POMT2-017 | 725 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000556446.1 | POMT2-020 | 556 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000557525.1 | POMT2-007 | 556 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000553880.1 | POMT2-014 | 555 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000555675.1 | POMT2-010 | 533 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000556404.1 | POMT2-016 | 532 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000556851.1 | POMT2-013 | 364 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
