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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
ENST00000539622.1 | PMM2-202 | 931 | 163aa | ENSP00000445879.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B7Z419 F5H0W0 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
ENST00000566983.1 | PMM2-018 | 907 | 219aa | ENSP00000457956.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B7Z419 H3BV55 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
ENST00000537352.1 | PMM2-201 | 793 | 121aa | ENSP00000438359.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B7Z419 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
ENST00000569958.1 | PMM2-015 | 698 | 155aa | ENSP00000456302.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H3BRM0 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | - | - | - |