Information on C4A
Alt. symbols: CPAMD2 | C4S | CO4 | C4 | C4A3 | C4A2 | C4A4 | C4A6 | C4B | RG
Approved name: complement C4A (Chido/Rodgers blood group)
Alt. names: complement component 4A, complement component 4A (Rodgers blood group)
Location: 6p21.33: 31982057 - 32002681 (+)
Gene type: protein_coding, 18 transcripts.
Scores: LoFtool: | pLI: 0.00000000 | LOEUF: 1.446
Gene Ontology (GO)
- Molecular function:
- Cell component: extracellular space [GO:0005615]
- Biological process: complement activation [GO:0006956]
Normal function
Dysfunction and disease
C4a deficiency [MIM:614380] | [Blood group, Rodgers] [MIM:614374] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
C4AD |
C4a deficiency | AR |
614380 |
0 (0 fams) |
Please mind that curation (inclusion of all reported patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of C4A
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 245 | ENST00000498271.1 | CCDS59005 | protein_coding | 40 | No | 5269 | NM_001252204 | ||
| 229 | ENST00000428956.7 | 1 | CCDS47404 | Select | protein_coding | 41 | Yes | 5427 | NM_007293 |
Published variants
Found 0 variants
| Var.name ⓘ | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that curation (inclusion of all reported gene variants) 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 C4A
Please mind that curation (inclusion of all relevant literature) has not started yet. Please contact us if you want to volunteer.
| ID | Year | Title | Journal | PMID | Variants |
|---|