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This gene encodes the final component of the complement system. It participates in the formation of the Membrane Attack Complex (MAC). The MAC assembles on bacterial membranes to form a pore, permitting disruption of bacterial membrane organization. Mutations in this gene cause component C9 deficiency. [provided by RefSeq, Feb 2009]
C9 (Complement C9) is a Protein Coding gene. Diseases associated with C9 include Complement Component 9 Deficiency and Macular Degeneration, Age-Related, 15. Among its related pathways are Complement and coagulation cascades and Innate Immune System. An important paralog of this gene is C8A.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 32814053 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005579 | membrane attack complex | IDA | 22832194 |
GO:0005615 | extracellular space | IDA | 22832194 |
GO:0005886 | plasma membrane | IDA | 26841934 |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Immune response Lectin induced complement pathway |
Immune response Alternative complement pathway
.56
Immune response Lectin induced complement pathway
.56
Immune response Classical complement pathway
.55
|
|
2 | Complement Pathway |
Complement Pathway
.62
Alternative Complement Pathway
.01
|
Classical Complement Pathway
.01
Lectin Induced Complement Pathway
.01
|
3 | Complement and coagulation cascades | ||
4 | Creation of C4 and C2 activators | ||
5 | Innate Immune System |
.61
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001906 | cell killing | IDA | 26841934 |
GO:0002376 | immune system process | IEA | -- |
GO:0006955 | immune response | IEA | -- |
GO:0006957 | complement activation, alternative pathway | IEA | -- |
GO:0006958 | complement activation, classical pathway | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Copper | Approved, Investigational | Pharma | Target | 271 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | C9 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | C9 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | C9 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | C9 30 |
|
||
Mouse (Mus musculus) |
Mammalia | C9 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | C9 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | C9 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | C9 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | c9 30 |
|
||
Str.6221 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | MGC64276 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | c9 31 |
|
OneToOne | |
-- 30 |
|
||||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 05 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
973622 | Pathogenic: Complement component 9 deficiency | 39,341,247(-) |
G/T NM_001737.5(C9):c.375C>A (p.Cys125Ter) |
NONSENSE | |
rs115196369 | Likely Benign: not provided | 39,341,646(-) |
C/T NM_001737.5(C9):c.238G>A (p.Asp80Asn) |
MISSENSE | |
rs121909592 | Pathogenic: Complement component 9 deficiency | 39,341,276(-) |
G/A NM_001737.5(C9):c.346C>T (p.Arg116Ter) |
NONSENSE | |
rs121909593 | Uncertain Significance: Complement component 9 deficiency; Macular degeneration, age-related, 15. Complement component 9 deficiency (C9D) [MIM:613825] | 39,341,267(-) |
A/Cp.Cys119Gly NM_001737.5(C9):c.355T>G (p.Cys119Gly) |
MISSENSE | |
rs121909594 | Pathogenic: Complement component 9 deficiency | 39,306,753(-) |
G/C NM_001737.5(C9):c.1280C>G (p.Ser427Ter) |
NONSENSE |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1241962 | CNV | insertion | 17803354 |
esv2669707 | CNV | deletion | 23128226 |
esv3326122 | CNV | insertion | 20981092 |
esv3389789 | CNV | insertion | 20981092 |
esv3443404 | CNV | insertion | 20981092 |
esv3604783 | CNV | gain | 21293372 |
esv3604786 | CNV | loss | 21293372 |
esv3604787 | CNV | loss | 21293372 |
nsv516263 | CNV | loss | 19592680 |
nsv597860 | CNV | gain | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
complement component 9 deficiency |
|
|
macular degeneration, age-related, 15 |
|
|
immunodeficiency due to a late component of complement deficiency |
|
|
meningococcal meningitis |
|
|
eye disease |
|
|