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 9 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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | - | - | - |
