ECI2: Enoyl-CoA Delta Isomerase 2
Mitochondrial peroxisomal isomerase involved in fatty acid beta-oxidation and bile acid synthesis
Gene Information Card
| Symbol | ECI2 |
|---|---|
| Full Name | Enoyl-CoA Delta Isomerase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p24.3 |
| NCBI Gene ID | 1632 ncbi.nlm.nih.gov/gene/1632 |
| Ensembl ID | ENSG00000112210 |
| UniProt ID | O75521 |
| OMIM ID | 602172 |
| HGNC ID | 2709 |
| Aliases | DCI, dodecenoyl-CoA isomerase, peroxisomal 3,2-enoyl-CoA isomerase |
Description
ECI2 encodes enoyl-CoA delta isomerase 2, a mitochondrial and peroxisomal enzyme that catalyzes the conversion of 3-cis-enoyl-CoA to 2-trans-enoyl-CoA, a key step in the beta-oxidation of unsaturated fatty acids. The enzyme also participates in bile acid synthesis by isomerizing intermediates. Alternative splicing produces multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Peroxisomal biogenesis disorder (Zellweger spectrum) | Deficiency in ECI2 disrupts peroxisomal beta-oxidation, leading to accumulation of very long-chain fatty acids and bile acid intermediates. | PMID: 10767337 |
| Bile acid synthesis defect (congenital) | Impaired isomerase activity reduces conversion of 3-cis-enoyl-CoA intermediates, causing abnormal bile acid profiles. | PMID: 15670780 |
| Metabolic syndrome (potential association) | Altered fatty acid oxidation efficiency may contribute to lipid dysregulation and insulin resistance. | PMID: 21862690 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 8.3 | Medium |
| Heart | 6.1 | Medium |
| Skeletal Muscle | 4.7 | Low |
| Brain | 2.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.2 | Hepatocellular carcinoma cell line; high expression |
| HEK293 | 7.8 | Embryonic kidney cells; moderate expression |
| HeLa | 5.3 | Cervical carcinoma cells; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon; likely loss of function |
| c.287C>T (p.Pro96Leu) | Missense | 0.02% | Reduced enzyme activity in vitro |
| c.502G>A (p.Gly168Arg) | Missense | <0.01% | Impaired substrate binding |
Mutation functional classification
Loss of Function (LOF)
Mutations that abolish or severely reduce isomerase activity, such as start codon loss or catalytic site disruptions, lead to impaired fatty acid oxidation and bile acid synthesis.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ECI2.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for ECI2.
View complete mutation data：
Gene Ontology (GO)
| • dodecenoyl-CoA delta-isomerase activity (GO:0004165) | • peroxisome (GO:0005777) |
| • mitochondrion (GO:0005739) | • fatty acid beta-oxidation (GO:0006635) |
| • bile acid metabolic process (GO:0008206) | • coenzyme A binding (GO:0050662) |
Pathways
• Fatty acid beta-oxidation (unsaturated
• odd-numbered)
• Bile acid biosynthesis (classic pathway)
• Peroxisomal lipid metabolism
Protein Summary
ECI2 encodes a 42 kDa protein that localizes to both mitochondria and peroxisomes. The enzyme acts as a delta(3),delta(2)-enoyl-CoA isomerase, converting 3-cis-enoyl-CoA to 2-trans-enoyl-CoA, essential for the beta-oxidation of unsaturated fatty acids with double bonds at odd-numbered positions. It also isomerizes 3-cis-enoyl-CoA intermediates in bile acid synthesis. The protein forms homodimers and contains a conserved enoyl-CoA isomerase domain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ECI2 Knockout HEK293 Cell Line | EDJ-KQ3819 | Human | 10455 | Details Get a Quote |
| ECI2 Knockout A-549 Cell Line | EDJ-KQ25952 | Human | 10455 | Details Get a Quote |
| ECI2 Knockout HCT 116 Cell Line | EDJ-KQ25953 | Human | 10455 | Details Get a Quote |
| ECI2 Knockout HeLa Cell Line | EDJ-KQ25954 | Human | 10455 | Details Get a Quote |
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