Information on C1S
Alt. symbols: EDSPD2
Approved name: complement C1s
Alt. names: complement component 1, s subcomponent
Location: 12p13.31: 6988259 - 7071032 (+)
Gene type: protein_coding, 23 transcripts.
Scores: LoFtool: 0.189000 | pLI: 0.86341005 | LOEUF: 0.596
Gene Ontology (GO)
- Molecular function: serine-type endopeptidase activity [GO:0004252]
- Cell component: extracellular space [GO:0005615]
- Biological process:
Normal function
Dysfunction and disease
Ehlers-Danlos syndrome, periodontal type, 2 [MIM:617174] | C1s deficiency [MIM:613783] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
EDSPD2 |
Ehlers-Danlos syndrome, periodontal type 2 | AD |
Gain of Function | 617174 |
0 (0 fams) |
| C1SD |
Complement component C1s deficiency | AR |
613783 |
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 C1S
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 203 | ENST00000402681.7 | CCDS86271 | protein_coding | 11 | No | 2522 | NM_001346850 | ||
| 202 | ENST00000360817.10 | 1 | CCDS31735 | Select | protein_coding | 12 | Yes | 2682 | NM_001734,NM_201442 |
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 C1S
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 |
|---|