Information on C2
Basic details
Alt. symbols: ARMD14 | CO2
Approved name: complement C2
Alt. names: complement component 2
Location: 6p21.33: 31897785 - 31945673 (+)
Gene type: protein_coding, 24 transcripts.
Scores: LoFtool: 0.260000 | pLI: 0.00000138 | LOEUF: 1.027
Normal function
Dysfunction and disease
{Macular degeneration, age-related, 14, reduced risk of} [MIM:615489] | C2 deficiency [MIM:217000] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
C2D |
Complement component 2 deficiency | AR |
217000 |
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 C2
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 209 | ENST00000452323.7 | CCDS56416 | protein_coding | 14 | No | 1999 | NM_001178063 | ||
| 201 | ENST00000299367.10 | 1 | CCDS4728 | Select | protein_coding | 18 | Yes | 2610 | NM_000063,NM_001282458 |
| 206 | ENST00000442278.6 | CCDS54991 | protein_coding | 16 | No | 2434 | NM_001145903 | ||
| 211 | ENST00000469372.5 | CCDS75428 | protein_coding | 14 | No | 1906 | NM_001282457 | ||
| 205 | ENST00000418949.6 | CCDS75427 | protein_coding | 6 | No | 1658 | NM_001282459 |
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 | - | NM_001178063.1: EX1 (90-98%) |
| - | 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 C2
| ID | Year | Title | Journal | PMID | Variants |
|---|