OGFOD2 Gene: 2-Oxoglutarate and Iron Dependent Oxygenase Domain Containing 2
A comprehensive biomedical overview of OGFOD2, including gene structure, expression, mutations, and clinical relevance.
Gene Information Card
| Symbol | OGFOD2 |
|---|---|
| Full Name | 2-oxoglutarate and iron dependent oxygenase domain containing 2 |
| Gene Type | protein coding |
| Chromosomal Location | 19q13.2 |
| NCBI Gene ID | 79676 ncbi.nlm.nih.gov/gene/79676 |
| Ensembl ID | ENSG00000104951 |
| UniProt ID | Q6NUN9 |
| OMIM ID | 617226 |
| HGNC ID | 25587 |
| Aliases | FLJ12770, PRO0817 |
Description
OGFOD2 encodes a member of the 2-oxoglutarate (2OG) and iron-dependent oxygenase superfamily. The protein contains a conserved dioxygenase domain and is predicted to catalyze hydroxylation reactions on protein substrates. OGFOD2 is localized in the cytoplasm and nucleus, and its expression is ubiquitous across tissues. While its exact biological role is not fully characterized, it is implicated in cellular stress responses and may be involved in protein modification. The gene is located on chromosome 19q13.2 and is conserved across species.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Disease | Mechanism | Evidence |
| No specific disease association | Not established | No direct evidence from ClinVar or OMIM for disease-causing mutations. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Tissue | nTPM | Level |
| Brain | 10.2 | Low |
| Heart | 8.5 | Low |
| Liver | 12.4 | Low |
| Kidney | 9.8 | Low |
| Testis | 15.6 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cell Line | nTPM | Notes |
| HeLa | 11.3 | Cervical cancer cell line |
| HEK293 | 9.7 | Embryonic kidney cells |
| HepG2 | 10.5 | Liver cancer cell line |
| A549 | 8.9 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Variant | Type | Frequency | Effect |
| rs143253783 | SNV (missense) | 0.0004 (gnomAD) | Amino acid substitution; clinical significance unknown |
| rs148978354 | SNV (synonymous) | 0.0002 | No protein change |
Mutation functional classification
Loss of Function (LOF)
No loss-of-function mutations have been characterized in OGFOD2.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative effects are known.
View complete mutation data：
Gene Ontology (GO)
| • oxidoreductase activity | • metal ion binding |
| • 2-oxoglutarate-dependent dioxygenase activity | • cytoplasm |
| • nucleus |
Pathways
• No specific pathways are curated for OGFOD2 in major databases.
Protein Summary
The OGFOD2 protein is a putative 2-oxoglutarate and iron-dependent oxygenase. It contains a conserved domain typical of dioxygenases that utilize Fe(II) and 2-oxoglutarate as cofactors to catalyze hydroxylation of protein substrates. The protein is predicted to localize to both the cytoplasm and nucleus. Its exact substrates and biological functions remain to be fully defined, but it may play a role in post-translational modification and cellular stress responses.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OGFOD2 Knockout HEK293 Cell Line | EDJ-KQ14557 | Human | 79676 | Details Get a Quote |
| OGFOD2 Knockout A-549 Cell Line | EDJ-KQ44850 | Human | 79676 | Details Get a Quote |
| OGFOD2 Knockout HCT 116 Cell Line | EDJ-KQ44851 | Human | 79676 | Details Get a Quote |
| OGFOD2 Knockout HeLa Cell Line | EDJ-KQ44852 | Human | 79676 | Details Get a Quote |
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