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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
complement component 2 deficiency
Summary
- Definition
- A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in autosomal recessive inheritance of mutation in the C2 gene.
- Super Class
- complement deficiency
External Links
- Disease Ontology
- DOID:0060295
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 37 | ACADVL | acyl-CoA dehydrogenase very long chain | |
| 811 | CALR | calreticulin | |
| 1589 | CYP21A2 | cytochrome P450 family 21 subfamily A member 2 | |
| 1604 | CD55 | CD55 molecule (Cromer blood group) | |
| 1636 | ACE | angiotensin I converting enzyme | |
| 4153 | MBL2 | mannose binding lectin 2 | |
| 8547 | FCN3 | ficolin 3 | |
| 10747 | MASP2 | MBL associated serine protease 2 | |
| 146183 | OTOA | otoancorin |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O00187 | Mannan-binding lectin serine protease 2 | |
| O75636 | Ficolin-3 | |
| P08174 | Complement decay-accelerating factor | |
| P11226 | Mannose-binding protein C | |
| P12821 | Angiotensin-converting enzyme | |
| P27797 | Calreticulin | |
| P49748 | Very long-chain specific acyl-CoA dehydrogenase, mitochondrial | |
| Q7RTW8 | Otoancorin |
