Gene
c8b
- ID
- ZDB-GENE-070912-163
- Name
- complement component 8, beta polypeptide
- Symbol
- c8b Nomenclature History
- Previous Names
-
- si:ch211-188c16.3
- wu:fi18d09
- Type
- protein_coding_gene
- Location
- Chr: 2 Mapping Details/Browsers
- Description
- Predicted to be involved in complement activation. Predicted to act upstream of or within complement activation, classical pathway; cytolysis; and innate immune response. Predicted to be located in extracellular region. Predicted to be part of membrane attack complex. Predicted to be active in extracellular space. Is expressed in liver. Human ortholog(s) of this gene implicated in type II complement component 8 deficiency. Orthologous to human C8B (complement C8 beta chain).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Takada et al., 2017
- 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 |
|---|---|---|---|
| type II complement component 8 deficiency | Alliance | C8 deficiency, type II | 613789 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR020863 | Membrane attack complex component/perforin domain, conserved site |
| Conserved_site | IPR023415 | Low-density lipoprotein (LDL) receptor class A, conserved site |
| Domain | IPR020864 | Membrane attack complex component/perforin (MACPF) domain |
| Domain | IPR048831 | Complement components C8A/B/C6, EGF-like domain |
| Family | IPR001862 | Membrane attack complex component/perforin/complement C9 |
| Homologous_superfamily | IPR036055 | LDL receptor-like superfamily |
| Homologous_superfamily | IPR036383 | Thrombospondin type-1 (TSP1) repeat superfamily |
| Repeat | IPR000884 | Thrombospondin type-1 (TSP1) repeat |
| Repeat | IPR002172 | Low-density lipoprotein (LDL) receptor class A repeat |
Domain Details Per Protein
| Protein | Length | Complement components C8A/B/C6, EGF-like domain | LDL receptor-like superfamily | Low-density lipoprotein (LDL) receptor class A, conserved site | Low-density lipoprotein (LDL) receptor class A repeat | Membrane attack complex component/perforin/complement C9 | Membrane attack complex component/perforin domain, conserved site | Membrane attack complex component/perforin (MACPF) domain | Thrombospondin type-1 (TSP1) repeat | Thrombospondin type-1 (TSP1) repeat superfamily |
|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A8HAJ8
|
562 |
Interactions and Pathways
No data available
Plasmids
No data available