THOC2

Chr Xq25

THO complex subunit 2

Aliases:: THO2, dJ506G2.1
MANE:: ENST00000245838.13

OMIM: 300395 ↗NCBI: 57187 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

THOC2 · Q8NI27

v62025-08-01

Predicted Aligned Error matrix for THOC2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

72.4/ 100

Confident

1,593 residues

Confidence breakdown

Very high(≥ 90)33%
Confident(70–90)35%
Low(50–70)5%
Very low(< 50)27%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Disease associations (Open Targets)

X-linked non-syndromic intellectual disability
0.75
neurodegenerative disease
0.50
X-linked complex neurodevelopmental disorder
0.37
hereditary disease
0.34
rheumatoid arthritis
0.31
Intellectual disability
0.18
neurodevelopmental disorder
0.12
autism
0.12
Neurodevelopmental abnormality
0.11
hepatocellular carcinoma
0.08

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

Protein function (UniProt)

THO complex subunit 2

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). Required for efficient export of polyadenylated RNA and spliced mRNA (PubMed:23222130). The THOC1-THOC2-THOC3 core complex alone is sufficient to bind export factor NXF1-NXT1 and promote ATPase activity of DDX39B; in the complex THOC2 is the only component that directly interacts with DDX39B (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:15833825, PubMed:15998806, PubMed:17190602). Required for NXF1 localization to the nuclear rim (PubMed:22893130). THOC2 (and probably the THO complex) is involved in releasing mRNA from nuclear speckle domains