Gene
THOC2
THO complex subunit 2
- HGNC 19073↗(opens in a new tab)
- Ensembl gene ENSG00000125676↗(opens in a new tab)
- NCBI Gene 57187↗(opens in a new tab)
Summary
- Cytogenetic location
- Xq25
- Coordinates
- Chromosome X: 123,600,569–123,733,052 (GRCh38)
- Exons
- 39 exons across 132.5 kb
- Protein
- 1,593 amino acids
- Also known as
- THO2, dJ506G2.1
- Previous symbols
- CXorf3, MRX12, MRX35
- MANE Select transcript
- ENST00000245838.13NM_001081550.2
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
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Get my Genome TestCurated reports relevant to this gene
Epilepsy (Full Panel)
- X-Linked Complex Neurodevelopmental Disorder
A complex neurodevelopmental disorder that is transmitted via X-linked inheritance, and is characterized by intellectual disability, autism and epilepsy.
- ClinGen rates the link definitive
- 1 GenCC submitter rates it definitive or strong
Broader groupings
Intellectual Disability
One of 233 genes linked to it
- 3 GenCC submitters rate it definitive or strong
How THOC2 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 5.6 kb of the gene's 132.5 kb; 4,782 of those bases code for the protein.
How a genome test reads THOC2
7
positions in THOC2 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 132.5 kb of THOC2, introns included, not only the 5.6 kb of exons.
Genes linked to the same conditions
- ARHGEF9Cdc42 guanine nucleotide exchange factor 9Shares 2 conditions
- CLCN4Cl-/H+ antiporter 4Shares 2 conditions
- CNKSR2connector enhancer of kinase suppressor of Ras 2Shares 2 conditions
- FRMPD4FERM and PDZ domain containing 4Shares 2 conditions
- FTSJ1FtsJ RNA 2'-O-methyltransferase 1Shares 2 conditions
- GRIA3glutamate ionotropic receptor AMPA type subunit 3Shares 2 conditions
- HNRNPH2heterogeneous nuclear ribonucleoprotein H2Shares 2 conditions
- IL1RAPL1interleukin 1 receptor accessory protein like 1Shares 2 conditions
- IQSEC2IQ motif and Sec7 domain ArfGEF 2Shares 2 conditions
- KDM5Clysine demethylase 5CShares 2 conditions
- NEXMIFneurite extension and migration factorShares 2 conditions
- PAK3p21 (RAC1) activated kinase 3Shares 2 conditions
Traits linked to THOC2
The Human Phenotype Ontology lists these as features of the rare conditions THOC2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Delayed speech and language development
- Intellectual disability
- Abnormal cerebral white matter morphology
- Abnormal gait
- Behavioral abnormality
- Intellectual disability, mild
- IQ between 34 and 49
- Tremor
Show 15 more traits
Abnormality of head or neck
- Big calvaria
- Depressed nasal bridge
- Little lower jaw
- Nasal tip, upturned
- Short columella
- Abnormally small head
- High palate
- Broad forehead
Show 2 more traits
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). THOC2 gene: THO complex subunit 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/thoc2
Dante Labs. THOC2 gene: THO complex subunit 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/thoc2
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