C2

Chr 6p21.33

complement C2

MANE:: ENST00000299367.10

OMIM: 613927 ↗NCBI: 717 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

C2 · P06681

v62025-08-01

Predicted Aligned Error matrix for C2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

88.3/ 100

Confident

752 residues

Confidence breakdown

Very high(≥ 90)66%
Confident(70–90)25%
Low(50–70)4%
Very low(< 50)5%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

COVID-19 research
BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ectodermal dysplasia
Familial cicatricial alopecia
Retinal disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

Immunodeficiency due to a complement cascade protein anomaly
0.71
immunodeficiency due to a classical component pathway complement deficiency
0.60
systemic lupus erythematosus
0.39
complement deficiency
0.37
type 1 diabetes mellitus
0.32
age-related macular degeneration
0.19
macular degeneration
0.12
retinal disorder
0.12
lacrimal apparatus disorder
0.09
Eyelid malformation
0.09

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Complement C2

Precursor of the catalytic component of the C3 and C5 convertase complexes, which are part of the complement pathway, a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strengthens the adaptive immune system (PubMed:12878586, PubMed:17027507, PubMed:18204047, PubMed:39914456, PubMed:39814882). Component C2 is part of the classical, lectin and GZMK complement systems (PubMed:12878586, PubMed:17027507, PubMed:18204047, PubMed:22691502, PubMed:39914456)