TMTC3

Chr 12q21.32

transmembrane O-mannosyltransferase targeting cadherins 3

Aliases:: FLJ90492, SMILE
MANE:: ENST00000266712.11

OMIM: 617218 ↗NCBI: 160418 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

TMTC3 · Q6ZXV5

v62025-08-01

Predicted Aligned Error matrix for TMTC3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

87.6/ 100

Confident

915 residues

Confidence breakdown

Very high(≥ 90)75%
Confident(70–90)13%
Low(50–70)4%
Very low(< 50)8%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

lissencephaly 8
0.69
cobblestone lissencephaly
0.46
lissencephaly spectrum disorders
0.46
Lissencephaly
0.46
periventricular nodular heterotopia
0.37
cobblestone lissencephaly without muscular or ocular involvement
0.37
chronic ulcer of skin
0.25
hereditary disease
0.19
hair color
0.19
sunburn
0.18

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

Protein function (UniProt)

Protein O-mannosyl-transferase TMTC3

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 (PubMed:28973932). Involved in the positive regulation of proteasomal protein degradation in the endoplasmic reticulum (ER), and the control of ER stress response