THOC6

Chr 16p13.3

THO complex subunit 6

Aliases:: MGC2655, fSAP35
MANE:: ENST00000326266.13

OMIM: 615403 ↗NCBI: 79228 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

THOC6 · Q86W42

v62025-08-01

Predicted Aligned Error matrix for THOC6 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

93.6/ 100

Very high

341 residues

Confidence breakdown

Very high(≥ 90)89%
Confident(70–90)8%
Low(50–70)1%
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)

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

Disease associations (Open Targets)

THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
0.78
hereditary disease
0.52
neurodegenerative disease
0.46
Intellectual disability
0.38
dystonia, early-onset, and/or spastic paraplegia
0.16
glioma
0.07
central nervous system cancer
0.07
Arrhythmogenic right ventricular dysplasia
0.06
Wolff-Parkinson-White syndrome
0.04
hypertrophic cardiomyopathy
0.04

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

Protein function (UniProt)

THO complex subunit 6

Component of the THO subcomplex of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and which specifically associates with spliced mRNA and not with unspliced pre-mRNA (PubMed:15833825, PubMed:15998806, PubMed:17190602). Plays a key structural role in the oligomerization of the THO-DDX39B complex (PubMed:33191911). TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5' end of the mRNA where it functions in mRNA export to the cytoplasm via the TAP/NXF1 pathway (PubMed:15998806, PubMed:17190602). Plays a role in apoptosis negative control involved in brain development (PubMed:15833825, PubMed:23621916)