Information on C5
Basic details
Alt. symbols: CPAMD4 | C5a | C5b
Approved name: complement C5
Alt. names: complement component 5 | prepro-C5, C5a anaphylatoxin
Location: 9q33.2: 120932987 - 121075195 (-)
Gene type: protein_coding, 13 transcripts.
Scores: LoFtool: 0.928000 | pLI: 0.00000000 | LOEUF: 0.695
Normal function
Dysfunction and disease
C5 deficiency [MIM:609536] | [Eculizumab, poor response to] [MIM:615749] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
4716 |
Eculizumab, poor response to | AD |
615749 |
0 (0 fams) | |
| C5D |
Complement component 5 deficiency | AR |
609536 |
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 C5
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000223642.3 | 1 | CCDS6826 | Select | protein_coding | 41 | Yes | 5464 | NM_001735 |
| 208 | ENST00000696281.1 | protein_coding | No | NM_001317163 |
Published variants
Found 0 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
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 C5
| ID | Year | Title | Journal | PMID | Variants |
|---|