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 enable serine-type endopeptidase inhibitor activity. Predicted to be involved in nervous system development. Predicted to act upstream of or within negative regulation of peptidase activity. Predicted to be located in extracellular space. Is expressed in brain; gill; liver; pleuroperitoneal region; and post-vent region. 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. 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