Description
phosphomannomutase 2 [Source:HGNC Symbol;Acc:9115]
Gene Synonyms
CDG1, CDG1a, CDGS, PMI, PMI1, PMM 2
Location
Chromosome 16: 8,882,680-8,943,188 forward strand.
GRCh37:CM000678.1
About this gene
This gene has 20 transcripts (splice variants), 1 paralogue and is associated with 5 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000268261.4 | PMM2-001 | 2313 | 246aa | ENSP00000268261.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS10536 | B7Z419 H3BV55 O15305 | NM_000303.2 | 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, |
| ENST00000539622.1 | PMM2-202 | 931 | 163aa | ENSP00000445879.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B7Z419 F5H0W0 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000566983.1 | PMM2-018 | 907 | 219aa | ENSP00000457956.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B7Z419 H3BV55 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000537352.1 | PMM2-201 | 793 | 121aa | ENSP00000438359.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B7Z419 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000569958.1 | PMM2-015 | 698 | 155aa | ENSP00000456302.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H3BRM0 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000566540.1 | PMM2-004 | 1557 | 66aa | ENSP00000454284.1 | Nonsense mediated decay | H3BM92 | - | - | |
| ENST00000570076.1 | PMM2-005 | 1002 | 90aa | ENSP00000456961.1 | Nonsense mediated decay | H3BT06 | - | - | |
| ENST00000566604.1 | PMM2-002 | 986 | 119aa | ENSP00000456774.1 | Nonsense mediated decay | B7Z6R0 | - | - | |
| ENST00000562318.1 | PMM2-003 | 931 | 66aa | ENSP00000454395.1 | Nonsense mediated decay | H3BM92 | - | - | |
| ENST00000565221.1 | PMM2-006 | 793 | 70aa | ENSP00000457932.1 | Nonsense mediated decay | H3BV34 | - | - | |
| ENST00000570134.1 | PMM2-016 | 573 | 66aa | ENSP00000456275.1 | Nonsense mediated decay | H3BM92 | - | - | |
| ENST00000564069.1 | PMM2-014 | 567 | 142aa | ENSP00000455320.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000568602.1 | PMM2-011 | 550 | 91aa | ENSP00000455066.1 | Nonsense mediated decay | H3BNY9 | - | - | |
| ENST00000565896.1 | PMM2-012 | 514 | 65aa | ENSP00000456024.1 | Nonsense mediated decay | H3BR08 | - | - | |
| ENST00000565837.1 | PMM2-019 | 625 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000562025.1 | PMM2-017 | 569 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000567697.1 | PMM2-007 | 5409 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000564030.1 | PMM2-008 | 1036 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000562448.1 | PMM2-013 | 583 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000566196.1 | PMM2-010 | 531 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
