C2orf69
Chromosome 2 Open Reading Frame 69
Gene Information Card
| Symbol | C2orf69 |
|---|---|
| Full Name | Chromosome 2 Open Reading Frame 69 |
| Gene Type | Protein-coding |
| Chromosomal Location | 2q33.1 |
| NCBI Gene ID | 205327 ncbi.nlm.nih.gov/gene/205327 |
| Ensembl ID | ENSG00000163002 |
| UniProt ID | Q8N6T3 |
| OMIM ID | 618199 |
| HGNC ID | 26778 |
| Aliases | MGC13057, dJ1181N3.1 |
Description
C2orf69 is a protein-coding gene located on chromosome 2q33.1. It encodes a mitochondrial protein of unknown function, but mutations have been associated with a syndromic disorder characterized by developmental delay, epilepsy, and microcephaly. The gene is highly conserved across species and is expressed in multiple tissues, particularly in the brain and muscle.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency 53 | Loss-of-function mutations in C2orf69 impair mitochondrial function, leading to reduced ATP production and neurological symptoms. | ClinVar, OMIM |
| Developmental and epileptic encephalopathy | Biallelic variants in C2orf69 disrupt protein function, causing early-onset seizures and developmental delay. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.5 | Medium |
| Muscle | 6.2 | Medium |
| Heart | 5.1 | Low |
| Liver | 3.8 | Low |
| Kidney | 4.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 7.1 | Moderate expression |
| SH-SY5Y | 9.3 | High expression |
| HepG2 | 4.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.337C>T (p.Arg113*) | Nonsense | Rare | Premature stop, loss of function |
| c.424_425del (p.Leu142Glufs*3) | Frameshift | Rare | Frameshift, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations in C2orf69 are loss-of-function, leading to reduced protein expression or activity.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative mutations have been described.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrion | • protein binding |
| • cellular respiration |
Pathways
• Oxidative phosphorylation
• Mitochondrial dysfunction
Protein Summary
The C2orf69 protein is a mitochondrial protein of unknown function. It is predicted to be involved in mitochondrial respiration and cellular energy metabolism. Structural analysis suggests it may have a role in protein-protein interactions within the mitochondrial matrix.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| C2orf69 Knockout HEK293 Cell Line | EDJ-KQ6145 | Human | 205327 | Details Get a Quote |
| C2orf69 Knockout A-549 Cell Line | EDJ-KQ29941 | Human | 205327 | Details Get a Quote |
| C2orf69 Knockout HCT 116 Cell Line | EDJ-KQ29942 | Human | 205327 | Details Get a Quote |
| C2orf69 Knockout HeLa Cell Line | EDJ-KQ28633 | Human | 205327 | Details Get a Quote |
