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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
mitochondrial trans-2-enoyl-CoA reductase
Summary
- Gene Symbol
-
- MECR
- Aliases
-
- CGI-63
- ETR1
- FASN2B
- NRBF1
- mitochondrial 2-enoyl thioester reductase
- nuclear receptor binding factor 1
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Acetylation
- Alternative splicing
- Cytoplasm
- Disease variant
- Dystonia
- Fatty acid biosynthesis
- Mitochondrion
- NADP
- Nucleus
- Oxidoreductase
- Reference proteome
- Transit peptide
- Proteins
| UniProt | Protein Name |
|---|---|
| Q9BV79 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| fatty acid metabolic process | ||
| fatty acid biosynthetic process |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| nucleus | ||
| mitochondrial matrix |
|
|
| mitochondrion |
GO Hierarchy
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
KEGG BRITE Database
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050835 | generalized dystonia | |
| DOID:0050841 | focal hand dystonia | |
| DOID:0060810 | syndromic X-linked intellectual disability type 10 | |
| DOID:0080199 | colorectal carcinoma | |
| DOID:0081419 | childhood-onset dystonia with optic atrophy and basal ganglia abnormalities | |
| DOID:0111756 | Leber hereditary optic neuropathy with demyelinating disease of CNS | |
| DOID:10965 | spastic diplegia | |
| DOID:10968 | spastic monoplegia | |
| DOID:10969 | hemiplegia | |
| DOID:10970 | spastic quadriplegic cerebral palsy |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000505 | Visual impairment |
| HP:0000514 | Slow saccadic eye movements |
| HP:0000543 | Optic disc pallor |
| HP:0000551 | Color vision defect |
| HP:0000572 | Visual loss |
| HP:0000580 | Pigmentary retinopathy |
| HP:0000603 | Central scotoma |
| HP:0000639 | Nystagmus |
| Disease ID | Disease Name |
|---|---|
| ORPHA:508093 |
|
| OMIM:620629 |
|
| OMIM:617282 |
|
PubChem Disease
LIPID MAPS Gene / Proteome Database
- LMPD ID
- LMP001079
- Gene Name
- mitochondrial trans-2-enoyl-CoA reductase
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 174963 | WB:WBGene00012375 | ||
| 176534 | WB:WBGene00012970 | ||
| 36540 | FB:FBgn0033883 | ||
| 102367609 | LATCH06926 | ||
| 550550 | ZFIN:ZDB-GENE-050417-399 | DANRE10765 | |
| 103027603 | ASTMX05764 | ||
| 108271049 | ICTPU14247 | ||
| 106605110 | SALSA30878 | ||
| 115176641 | SALTR43395 | ||
| 115554599 | GADMO04104 |
