Information on C9
Basic details
Alt. symbols: ARMD15 | C9D
Approved name: complement C9
Alt. names: complement component 9
Location: 5p13.1: 39284140 - 39371324 (-)
Gene type: protein_coding, 7 transcripts.
Scores: LoFtool: 0.372000 | pLI: 0.00000000 | LOEUF: 1.514
Normal function
Complement component C9 is the pore-forming subunit of the MAC (membrane attack complex), which plays a key role in the innate and adaptive immune response by forming pores in the plasma membrane of target cells (PMID: 4055801, 9634479, 9212048, 26841934, 30111885).
Dysfunction and disease
Biallelic nonsense or missense mutations in C9 lead to C9 deficiency [MIM:613825], a rare autosomal recessive disorder that confers increased susceptibility to (recurrent) bacterial meningitis (PMID: 2241452, 9144525, 9634479, 9570574). However, the second C9 mutation has not always been identified (PMID: 9634479, 9570574). Specific nonsense or missense mutations in C9 have also been associated with other conditions such as dermatomyositis (p.R95X; PMID: 11359403) and susceptibility to age-relat ed macular degeneration (p.P167S; PMID: 24036952) [MIM:615591]. [Load More]
[Reviewed by Andrés Caballero-Oteyza on 2021-01-22 15:53:52]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
C9D |
Complement component 9 deficiency | AR |
613825 |
0 (0 fams) |
Please mind that full curation (inclusion of all published patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of C9
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000263408.5 | 1 | CCDS3929 | Select | protein_coding | 11 | Yes | 2770 | NM_001737 |
Published variants
Found 1 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|---|---|---|---|---|---|---|
| P167S |
EX5 | 530 | c.499C>T | p.Pro167Ser | missense_variant | Risk allele | 2 |
Please mind that full curation (inclusion of all published variants) of this gene has not started yet. Please contact us if you want to volunteer.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Uniparental disomy | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in C9
| ID | Year | Title | Journal | PMID | Variants |
|---|---|---|---|---|---|
| 414 |
2013 | Rare variants in CFI, C3 and C9 are associated with high ris... | Nat. Genet. | 24036952 |
1 |
| 552 |
2021 | The rare C9 P167S risk variant for age-related macular degen... | Hum. Mol. Genet. | 33783477 |
1 |