Gene
c3b.2
- ID
- ZDB-GENE-030131-3063
- Name
- complement component c3b, tandem duplicate 2
- Symbol
- c3b.2 Nomenclature History
- Previous Names
-
- c3.8 (1)
- si:ch211-140f21.1
- wu:fc26b08
- Type
- protein_coding_gene
- Location
- Chr: 22 Mapping Details/Browsers
- Description
- Predicted to have endopeptidase inhibitor activity. Predicted to localize to extracellular space. Human ortholog(s) of this gene implicated in several diseases, including complement deficiency (multiple); macular degeneration (multiple); paroxysmal nocturnal hemoglobinuria; sickle cell anemia; and silicosis. Is expressed in brain; gill; liver; pleuroperitoneal region; and post-vent region. Orthologous to human C3 (complement C3).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
age related macular degeneration 9 | Alliance | {Macular degeneration, age-related, 9} | 611378 |
complement component 3 deficiency | Alliance | C3 deficiency | 613779 |
{Hemolytic uremic syndrome, atypical, susceptibility to, 5} | 612925 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Conserved_site | IPR047565 | Alpha-macroglobulin-like, thiol-ester bond-forming region |
Domain | IPR000020 | Anaphylatoxin/fibulin |
Domain | IPR001134 | Netrin domain |
Domain | IPR001599 | Alpha-2-macroglobulin |
Domain | IPR002890 | Macroglobulin domain |
Domain | IPR009048 | Alpha-macroglobulin, receptor-binding |
Domain | IPR011625 | Alpha-2-macroglobulin, bait region domain |
Domain | IPR011626 | Alpha-macroglobulin-like, TED domain |
Domain | IPR018933 | Netrin module, non-TIMP type |
Domain | IPR040839 | Macroglobulin domain MG4 |
Domain | IPR041425 | Complement C3/4/5, macroglobulin domain MG1 |
Domain | IPR041555 | Macroglobulin domain MG3 |
Domain | IPR048848 | Complement component 3, CUB domain, second segment |
Family | IPR050473 | Alpha-2-macroglobulin/Complement system |
Homologous_superfamily | IPR008930 | Terpenoid cyclases/protein prenyltransferase alpha-alpha toroid |
Homologous_superfamily | IPR008993 | Tissue inhibitor of metalloproteinases-like, OB-fold |
Homologous_superfamily | IPR013783 | Immunoglobulin-like fold |
Homologous_superfamily | IPR014756 | Immunoglobulin E-set |
Homologous_superfamily | IPR018081 | Anaphylatoxin, complement system |
Homologous_superfamily | IPR036595 | Alpha-macroglobulin, receptor-binding domain superfamily |
Domain Details Per Protein
Protein | Length | Alpha-2-macroglobulin | Alpha-2-macroglobulin, bait region domain | Alpha-2-macroglobulin/Complement system | Alpha-macroglobulin-like, TED domain | Alpha-macroglobulin-like, thiol-ester bond-forming region | Alpha-macroglobulin, receptor-binding | Alpha-macroglobulin, receptor-binding domain superfamily | Anaphylatoxin, complement system | Anaphylatoxin/fibulin | Complement C3/4/5, macroglobulin domain MG1 | Complement component 3, CUB domain, second segment | Immunoglobulin E-set | Immunoglobulin-like fold | Macroglobulin domain | Macroglobulin domain MG3 | Macroglobulin domain MG4 | Netrin domain | Netrin module, non-TIMP type | Terpenoid cyclases/protein prenyltransferase alpha-alpha toroid | Tissue inhibitor of metalloproteinases-like, OB-fold |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:A5PMP8
|
1690 | ||||||||||||||||||||
UniProtKB:A0A8M3AN56
|
1769 | ||||||||||||||||||||
UniProtKB:A0A8M2BLP7
|
1747 | ||||||||||||||||||||
UniProtKB:A8KB97
|
323 |
Interactions and Pathways
No data available
Plasmids
No data available