AlphaFold predicted structure
TMTC2 · Q8N394
Mean pLDDT
90.4/ 100
Very high
836 residues
Confidence breakdown
- Very high(≥ 90)83%
- Confident(70–90)10%
- Low(50–70)1%
- Very low(< 50)7%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
TMTC2
Chr 12q21.31transmembrane O-mannosyltransferase targeting cadherins 2
- Aliases:
- DKFZp762A217
- MANE:
- ENST00000321196.8
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Moderate Evidence (Amber)
Monogenic hearing loss
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Disease associations (Open Targets)
scoliosis
0.40neurodegenerative disease
0.37alcohol drinking
0.37placental abruption
0.35open-angle glaucoma
0.33smoking initiation
0.31glaucoma
0.29nutritional deficiency disease
0.29Abnormal nasolacrimal system morphology
0.28peritonitis
0.24
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Protein O-mannosyl-transferase TMTC2
Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. The 4 members of the TMTC family are O-mannosyl-transferases dedicated primarily to the cadherin superfamily, each member seems to have a distinct role in decorating the cadherin domains with O-linked mannose glycans at specific regions. Also acts as O-mannosyl-transferase on other proteins such as PDIA3
Diseases associated with TMTC2
Curated MONDO disease pages that list TMTC2 among their top associated genes.