OCIAD2 Gene (OCIA Domain Containing 2)
A gene encoding a protein involved in mitochondrial function and potential roles in cancer and neurodegenerative diseases.
Gene Information Card
| Symbol | OCIAD2 |
|---|---|
| Full Name | OCIA Domain Containing 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q32.3 |
| NCBI Gene ID | 653149 ncbi.nlm.nih.gov/gene/653149 |
| Ensembl ID | ENSG00000164171 |
| UniProt ID | Q5VU97 |
| OMIM ID | 617522 |
| HGNC ID | 26707 |
| Aliases | OCIA domain containing 2, MGC12972 |
Description
OCIAD2 (OCIA Domain Containing 2) is a protein-coding gene located on chromosome 4q32.3. The encoded protein contains an OCIA domain and is localized to mitochondria, where it may play a role in mitochondrial function and cellular metabolism. OCIAD2 expression has been detected in various tissues and is implicated in cancer progression and neurodegenerative diseases. The gene is also known by the alias MGC12972.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (e.g., breast, lung) | OCIAD2 overexpression may promote tumor cell proliferation and invasion through mitochondrial signaling pathways. | NCBI Gene, COSMIC |
| Neurodegenerative disorders | Altered OCIAD2 expression may affect mitochondrial dynamics and contribute to neuronal dysfunction. | NCBI Gene, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Lung | 8.1 | Medium |
| Breast | 6.4 | Medium |
| Liver | 3.0 | Low |
| Kidney | 4.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 12.3 | Moderate expression |
| A549 (lung cancer) | 9.8 | Moderate expression |
| HEK293 (embryonic kidney) | 7.1 | Low expression |
| SH-SY5Y (neuroblastoma) | 6.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200G>A (p.Arg67His) | Missense | <0.1% | Unknown functional impact |
| c.315C>T (p.Ser105=) | Synonymous | <0.1% | No effect on protein sequence |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrion | • protein binding |
| • cellular response to stress |
Pathways
• Mitochondrial dysfunction in neurodegenerative diseases (Reactome)
Protein Summary
The OCIAD2 protein (UniProt Q5VU97) is a 244-amino acid protein containing an OCIA domain. It is predicted to localize to mitochondria and may be involved in mitochondrial organization and cellular stress responses. Its exact molecular function remains under investigation, but it is thought to modulate mitochondrial activity and cell survival.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OCIAD2 Knockout HEK293 Cell Line | EDJ-KQ9292 | Human | 132299 | Details Get a Quote |
| OCIAD2 Knockout A-549 Cell Line | EDJ-KQ35900 | Human | 132299 | Details Get a Quote |
| OCIAD2 Knockout HCT 116 Cell Line | EDJ-KQ35901 | Human | 132299 | Details Get a Quote |
| OCIAD2 Knockout HeLa Cell Line | EDJ-KQ35902 | Human | 132299 | Details Get a Quote |
