Information on C7
Basic details
Alt. symbols:
Approved name: complement C7
Alt. names: complement component 7
Location: 5p13.1: 40909492 - 41020216 (+)
Gene type: protein_coding, 14 transcripts.
Scores: LoFtool: 0.598000 | pLI: 0.00000000 | LOEUF: 0.904
Normal function
The C7 gene encodes a serum glycoprotein (C7) that forms a membrane attack complex (MAC) together with complement components C5b, C6, C8, and C9 as part of the terminal complement pathway of the innate immune system. C7 contains a cholesterol-dependent cytolysin/membrane attack complex/perforin-like (CDC/MACPF) domain, which is shared by a large family of structurally related molecules that form pores in the plasma membrane of target cells. Therefore C7 is involved in host immunity and bacterial pathogenesis. C7 initiates the MAC formation by binding the C5b-C6 subcomplex and inserts into the phospholipid bilayer, serving as a membrane anchor.
Dysfunction and disease
Biallelic frameshift, nonsense, missense and splice site mutations in the C7 gene may cause complement component C7 deficiency [MIM:610102]. This is a rare primary immunodeficiency characterized by increased susceptibility to recurrent bacterial infections, predominantly by Neisseria species. [Load More]
[Reviewed by Andrés Caballero-Oteyza on 2021-03-24 09:23:41]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
C7D |
Complement component 7 deficiency | AR |
610102 |
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 C7
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000313164.10 | 1 | CCDS47201 | Select | protein_coding | 18 | Yes | 5716 | NM_000587 |
Published variants
Found 1 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|---|---|---|---|---|---|---|
| R521S |
EX12 | 1675 | c.1561C>A | p.Arg521Ser | missense_variant | Pathogenic | 0 |
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 C7
| ID | Year | Title | Journal | PMID | Variants |
|---|---|---|---|---|---|
| 119 |
1996 | Molecular bases of combined subtotal deficiencies of C6 and ... | jimmunol | 8871666 |
1 |
| 120 |
2006 | Molecular defects of the C7 gene in two patients with comple... | Immunology | 16771861 |
1 |
| 121 |
2017 | Strains responsible for invasive meningococcal disease in pa... | J. Infect. Dis. | 28368462 |
1 |
| 122 |
2007 | Hereditary complement C7 deficiency in nine families: Subtot... | Eur. J. Immunol. | 17407100 |
1 |