DECR2: 2,4-Dienoyl-CoA Reductase 2
Mitochondrial peroxisomal protein involved in fatty acid beta-oxidation
Gene Information Card
| Symbol | DECR2 |
|---|---|
| Full Name | 2,4-Dienoyl-CoA Reductase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 26063 ncbi.nlm.nih.gov/gene/26063 |
| Ensembl ID | ENSG00000103197 |
| UniProt ID | Q9NUI1 |
| OMIM ID | 615118 |
| HGNC ID | 2754 |
| Aliases | DECR2, MGC13170, PDCR, SDR16C1 |
Description
DECR2 encodes 2,4-dienoyl-CoA reductase 2, a mitochondrial and peroxisomal enzyme that catalyzes the reduction of 2,4-dienoyl-CoA to 3-enoyl-CoA, an essential step in the beta-oxidation of unsaturated fatty acids. The enzyme is a member of the short-chain dehydrogenase/reductase (SDR) family and is involved in both mitochondrial and peroxisomal fatty acid metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Peroxisomal fatty acid oxidation disorder | Deficiency in DECR2 impairs the degradation of unsaturated fatty acids, leading to accumulation of toxic intermediates | PMID: 23430878 |
| Zellweger syndrome spectrum | DECR2 dysfunction may contribute to peroxisomal dysfunction observed in Zellweger spectrum disorders | PMID: 23430878 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 8.3 | Medium |
| Heart | 6.1 | Medium |
| Skeletal muscle | 5.4 | Medium |
| Brain | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.1 | Hepatocellular carcinoma cell line |
| HEK293 | 7.8 | Embryonic kidney cells |
| HeLa | 5.3 | Cervical cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | Rare | Reduced enzyme activity |
| c.200C>T | Nonsense | Rare | Premature truncation, loss of function |
| c.350G>A | Missense | Rare | Altered substrate binding |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein with no enzymatic activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0008670 - 2 | • 4-dienoyl-CoA reductase (NADPH) activity |
| • GO:0005777 - peroxisome | • GO:0005739 - mitochondrion |
| • GO:0006635 - fatty acid beta-oxidation | • GO:0055114 - oxidation-reduction process |
Pathways
• Fatty acid beta-oxidation (unsaturated
• odd-numbered)
• Peroxisomal fatty acid beta-oxidation
Protein Summary
DECR2 encodes a 335-amino acid protein with a molecular weight of approximately 37 kDa. It contains a conserved NAD(P)-binding domain characteristic of the SDR family. The enzyme localizes to both mitochondria and peroxisomes, where it reduces 2,4-dienoyl-CoA intermediates during the beta-oxidation of unsaturated fatty acids. Deficiency leads to accumulation of unsaturated fatty acyl-CoAs and is associated with peroxisomal disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DECR2 Knockout HEK293 Cell Line | EDJ-KQ8381 | Human | 26063 | Details Get a Quote |
| DECR2 Knockout A-549 Cell Line | EDJ-KQ34431 | Human | 26063 | Details Get a Quote |
| DECR2 Knockout HCT 116 Cell Line | EDJ-KQ34432 | Human | 26063 | Details Get a Quote |
| DECR2 Knockout HeLa Cell Line | EDJ-KQ34433 | Human | 26063 | Details Get a Quote |
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