C8G

Chr 9q34.3

complement C8 gamma chain

MANE:: ENST00000371634.7

OMIM: 120930 ↗NCBI: 733 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

C8G · P07360

v62025-08-01

Predicted Aligned Error matrix for C8G — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

89.8/ 100

Confident

202 residues

Confidence breakdown

Very high(≥ 90)77%
Confident(70–90)7%
Low(50–70)14%
Very low(< 50)2%

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
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

immunodeficiency due to a late component of complement deficiency
0.37
Immunodeficiency due to a late component of complements deficiency
0.37
complement deficiency
0.37
Immunodeficiency
0.15
coronary artery disorder
0.04
coronary atherosclerosis
0.04
keratoconus
0.02
COVID-19
0.01
gestational diabetes
0.01
open-angle glaucoma
0.01

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

Protein function (UniProt)

Complement component C8 gamma chain

Component of the membrane attack complex (MAC), a multiprotein complex activated by the complement cascade, which inserts into a target cell membrane and forms a pore, leading to target cell membrane rupture and cell lysis (PubMed:26841837, PubMed:27052168, PubMed:30552328). The MAC is initiated by proteolytic cleavage of C5 into complement C5b in response to the classical, alternative, lectin and GZMK complement pathways (PubMed:30552328, PubMed:39914456, PubMed:39814882). The complement pathways consist in a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strengthens the adaptive immune system (PubMed:30552328). C8G, together with C8A and C8B, inserts into the target membrane, but does not form pores by itself (PubMed:30552328). During MAC assembly, associates with C5b, C6 and C7 to form the C5b8 intermediate complex that inserts into the target membrane and traverses the bilayer increasing membrane rigidity (PubMed:30552328, PubMed:6833260)