Description
D-2-hydroxyglutarate dehydrogenase [Source:HGNC Symbol;Acc:28358]
Gene Synonyms
D2HGD, FLJ42195, MGC25181
Location
Chromosome 2: 242,673,994-242,708,231 forward strand.
GRCh37:CM000664.1
About this gene
This gene has 18 transcripts (splice variants) and is associated with 3 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000321264.4 | D2HGDH-001 | 2617 | 521aa | ENSP00000315351.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS33426 | B3KP72 B5MCV2 Q8N465 | NM_152783.3 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000403782.1 | D2HGDH-002 | 2208 | 387aa | ENSP00000384723.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B3KP72 B5MCV2 | NM_001287249.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000537090.1 | D2HGDH-202 | 1312 | 325aa | ENSP00000442796.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F6XUM0 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000342518.6 | D2HGDH-201 | 1118 | 319aa | ENSP00000339536.6 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B4E3L6 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000445308.1 | D2HGDH-017 | 955 | 318aa | ENSP00000387479.1 | 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, | |
| ENST00000432449.1 | D2HGDH-013 | 566 | 189aa | ENSP00000395837.1 | 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, | |
| ENST00000417686.1 | D2HGDH-010 | 454 | 152aa | ENSP00000392602.1 | 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, | |
| ENST00000437164.1 | D2HGDH-020 | 269 | 89aa | ENSP00000412511.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H7C3L2 | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, | |
| ENST00000454048.1 | D2HGDH-019 | 234 | 78aa | ENSP00000404596.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H7C290 | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, | |
| ENST00000436747.1 | D2HGDH-003 | 4549 | 243aa | ENSP00000400212.1 | Nonsense mediated decay | F8WCF9 | - | - | |
| ENST00000400769.2 | D2HGDH-004 | 2277 | 320aa | ENSP00000383580.2 | Nonsense mediated decay | G5E9E8 | - | - | |
| ENST00000486953.1 | D2HGDH-006 | 2232 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000463932.1 | D2HGDH-021 | 684 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000467427.1 | D2HGDH-018 | 555 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000496252.1 | D2HGDH-014 | 496 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000468064.1 | D2HGDH-009 | 2298 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000473126.1 | D2HGDH-005 | 1612 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000470343.1 | D2HGDH-016 | 1026 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
