ECHDC2
Enoyl-CoA Hydratase Domain Containing 2
Gene Information Card
| Symbol | ECHDC2 |
|---|---|
| Full Name | Enoyl-CoA Hydratase Domain Containing 2 |
| Gene Type | Protein-coding |
| Chromosomal Location | 1p32.3 |
| NCBI Gene ID | 55268 ncbi.nlm.nih.gov/gene/55268 |
| Ensembl ID | ENSG00000116830 |
| UniProt ID | Q9NTX5 |
| OMIM ID | 617698 |
| HGNC ID | 28211 |
| Aliases | ECHDC2, FLJ10727, MGC138499 |
Description
ECHDC2 encodes a mitochondrial enoyl-CoA hydratase domain-containing protein involved in fatty acid beta-oxidation and amino acid catabolism. It catalyzes the hydration of enoyl-CoA thioesters to 3-hydroxyacyl-CoA intermediates.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| 3-Hydroxyacyl-CoA Dehydrogenase Deficiency | Potential disruption of mitochondrial beta-oxidation | Inferred from homology; not directly confirmed in ClinVar |
| Mitochondrial Fatty Acid Oxidation Disorders | Impaired enoyl-CoA hydratase activity | Inferred from functional studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.8 | Medium |
| Heart | 8.2 | Medium |
| Skeletal Muscle | 6.4 | Low |
| Brain | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.2 | Hepatocellular carcinoma cell line |
| HEK293 | 9.5 | Embryonic kidney cells |
| K562 | 4.8 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon; predicted loss of function |
| c.200C>T (p.Thr67Ile) | Missense | <0.01% | Unknown significance; not reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Predicted for start-loss and nonsense variants; no confirmed pathogenic LOF alleles in ClinVar.
Gain of Function (GOF)
No evidence.
Dominant Negative (DN)
No evidence.
View complete mutation data：
Gene Ontology (GO)
| • enoyl-CoA hydratase activity | • mitochondrion |
| • fatty acid beta-oxidation | • 3-hydroxyacyl-CoA dehydrogenase activity |
Pathways
• Fatty acid beta-oxidation (mitochondrial)
• Valine
• leucine and isoleucine degradation
Protein Summary
ECHDC2 is a 303-amino acid mitochondrial protein that functions as an enoyl-CoA hydratase in fatty acid and branched-chain amino acid catabolism. It is widely expressed in metabolically active tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ECHDC2 Knockout HEK293 Cell Line | EDJ-KQ13248 | Human | 55268 | Details Get a Quote |
| ECHDC2 Knockout A-549 Cell Line | EDJ-KQ42648 | Human | 55268 | Details Get a Quote |
| ECHDC2 Knockout HCT 116 Cell Line | EDJ-KQ42649 | Human | 55268 | Details Get a Quote |
| ECHDC2 Knockout HeLa Cell Line | EDJ-KQ42650 | Human | 55268 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
