Version: 8.0.0Date: Tue Jan 28 2025
Gene
C5
- Species
- Homo sapiens
- Symbol
- C5
- Name
- complement C5
- Synonyms
- anaphylatoxin C5a analog
- C3 and PZP-like alpha-2-macroglobulin domain-containing protein 4
- Biotype
- protein coding gene
- Automated Description
- Predicted to enable chemokine activity. Involved in negative regulation of macrophage chemotaxis; positive regulation of chemokine production; and positive regulation of vascular endothelial growth factor production. Located in extracellular exosome. Part of membrane attack complex. Implicated in several diseases, including complement component 5 deficiency; liver cirrhosis; neutropenia; paroxysmal nocturnal hemoglobinuria; and pneumonia. Biomarker of adult respiratory distress syndrome; asthma; chronic obstructive pulmonary disease; cystic fibrosis; and factor VIII deficiency.
- RGD Description
- This gene encodes a component of the complement system, a part of the innate immune system that plays an important role in inflammation, host homeostasis, and host defense against pathogens. The encoded preproprotein is proteolytically processed to generate multiple protein products, including the C5 alpha chain, C5 beta chain, C5a anaphylatoxin and C5b. The C5 protein is comprised of the C5 alpha and beta chains, which are linked by a disulfide bridge. Cleavage of the alpha chain by a convertase enzyme results in the formation of the C5a anaphylatoxin, which possesses potent spasmogenic and chemotactic activity, and the C5b macromolecular cleavage product, a subunit of the membrane attack complex (MAC). Mutations in this gene cause complement component 5 deficiency, a disease characterized by recurrent bacterial infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR11412
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr9:120932987...121075195 - (142.21 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.