COXFA4L2 Gene - Cytochrome c Oxidase Subunit 4 Like 2
A mitochondrial respiratory chain complex IV assembly factor with potential roles in oxidative phosphorylation and cancer metabolism.
Gene Information Card
| Symbol | COXFA4L2 |
|---|---|
| Full Name | Cytochrome c oxidase subunit 4 like 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 14q32.33 |
| NCBI Gene ID | 441150 ncbi.nlm.nih.gov/gene/441150 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q5VU57 |
| OMIM ID | 620823 |
| HGNC ID | 33797 |
| Aliases | COX4L2, COX4-2, COX4B2 |
Description
COXFA4L2 encodes a protein that is a subunit of cytochrome c oxidase (Complex IV), the terminal enzyme of the mitochondrial electron transport chain. This subunit is thought to modulate the activity and assembly of Complex IV, particularly under hypoxic conditions or in tissues with high metabolic demand. Alternative splicing may produce multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial Complex IV Deficiency | Impaired assembly or activity of cytochrome c oxidase due to COXFA4L2 dysfunction leads to reduced ATP production and oxidative stress. | Limited; inferred from homology to COX4I1 and functional studies. |
| Cancer (various types) | Altered COXFA4L2 expression may shift metabolic reliance from oxidative phosphorylation to glycolysis (Warburg effect), promoting tumor growth. | COSMIC reports somatic mutations in colorectal and lung cancers. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal Muscle | 10.8 | Medium |
| Liver | 3.2 | Low |
| Brain | 2.1 | Low |
| Kidney | 4.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 8.9 | Moderate expression |
| HeLa | 6.3 | Moderate expression |
| HepG2 | 4.1 | Low expression |
| A549 | 7.2 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.215G>A (p.Arg72His) | Missense | <0.01% | Unknown; predicted benign by in silico tools. |
| c.340C>T (p.Arg114Trp) | Missense | <0.01% | Unknown; predicted possibly damaging. |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • cytochrome-c oxidase activity (GO:0004129) | • mitochondrial inner membrane (GO:0005743) |
| • integral component of membrane (GO:0016021) | • oxidative phosphorylation (GO:0006119) |
Pathways
• KEGG: hsa00190 - Oxidative phosphorylation
• Reactome: R-HSA-611105 - Respiratory electron transport
Protein Summary
The COXFA4L2 protein is a 17 kDa subunit of mitochondrial cytochrome c oxidase. It contains a transmembrane domain that anchors it to the inner mitochondrial membrane. Unlike the ubiquitous COX4I1, COXFA4L2 is expressed in a tissue-specific manner and may confer distinct kinetic properties to Complex IV, potentially optimizing respiration under varying oxygen tensions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COXFA4L2 Knockout HEK293 Cell Line | EDJ-KQ3230 | Human | 56901 | Details Get a Quote |
| COXFA4L2 Knockout A-549 Cell Line | EDJ-KQ24740 | Human | 56901 | Details Get a Quote |
| COXFA4L2 Knockout HeLa Cell Line | EDJ-KQ56763 | Human | 56901 | Details Get a Quote |
| COXFA4L2 Knockout HCT 116 Cell Line | EDJ-KQ73708 | Human | 56901 | Details Get a Quote |
