ECI2 Gene Summary [Human]
This gene encodes a member of the hydratase/isomerase superfamily. The protein encoded is a key mitochondrial enzyme involved in beta-oxidation of unsaturated fatty acids. It catalyzes the transformation of 3-cis and 3-trans-enoyl-CoA esters arising during the stepwise degradation of cis-, mono-, and polyunsaturated fatty acids to the 2-trans-enoyl-CoA intermediates. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2011]
Details
| Type | Protein Coding |
| Official Symbol | ECI2 |
| Official Name | enoyl-CoA delta isomerase 2 [Source:HGNC Symbol;Acc:HGNC:14601] |
| Ensembl ID | ENSG00000198721 |
| Bio databases IDs | |
| Aliases | enoyl-CoA delta isomerase 2, acyl-Coenzyme A binding domain containing 2, Hepatocellular carcinoma-associated antigen 88 |
| Synonyms | ACBD2, dJ1013A10.3, DRS-1, enoyl-CoA delta isomerase 2, enoyl-CoA δ isomerase 2, enoyl-Coenzyme A delta isomerase 2, enoyl-Coenzyme A δ isomerase 2, HCA88, PECI, Peroxisomal delta3, delta2-enoyl-Coenzyme A isomerase, Peroxisomal enoyl-coa isomerase |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ECI2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- dodecenoyl-CoA D-isomerase
- carbon-carbon double bond transposing intramolecular oxidoreductase
- crotonase-like
- enzyme
- protein binding
- Enoyl-CoA hydratase/isomerase
- ACBP
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Waldenström macroglobulinemia
- gastric adenocarcinoma
- gastric epithelial cancer
- Parkinson disease
- systemic autoimmune syndrome
- Sengers syndrome
regulates
- trans-3-nonenoyl-coenzyme A
- trans-2-nonenoyl coenzyme A
- C12:1 acylcarnitine
- fatty acid
role in cell
- accumulation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- peroxisomal matrix
- intracellular membrane-bounded organelle
- Mitochondria
- cytosol
- peroxisomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ECI2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- fatty acid beta-oxidation
Cellular Component
Where in the cell the gene product is active
- peroxisome
- intracellular membrane-bounded organelle
- mitochondrion
- membrane
- cytosol
- peroxisomal matrix
Molecular Function
What the gene product does at the molecular level
- protein binding
- fatty-acyl-CoA binding
- dodecenoyl-CoA delta-isomerase activity