THOC2 Chromosome X
THO complex subunit 2
Upload your DNA to see your personal genotypes for variants in THOC2.
What This Gene Does
The TREX multiprotein complex binds specifically to spliced mRNAs to facilitate mRNA export. The protein encoded by this gene is a member of the THO complex, a subset of the TREX complex. The encoded protein interacts with the THOC1 protein.[provided by RefSeq, Jun 2010]
Gene Info
Gene Group
THO complex
Locus Type
gene with protein product
Location
Xq25
Ensembl
ENSG00000125676
Associated Conditions (2)
X-linked intellectual disability-short stature-overweight syndrome
Inborn genetic diseases
Key Variants
RS1556036052
Conflicting classifications of pathogenicity
X-linked intellectual disability-short stature-overweight syndrome, X-linked intellectual disability-short stature-overweight syndrome
Health Risk
RS1556302160
Conflicting classifications of pathogenicity
Inborn genetic diseases, X-linked intellectual disability-short stature-overweight syndrome, Inborn genetic diseases
Health Risk
RS1603255389
Conflicting classifications of pathogenicity
X-linked intellectual disability-short stature-overweight syndrome, X-linked intellectual disability-short stature-overweight syndrome
Health Risk
RS1556015437
Likely pathogenic
X-linked intellectual disability-short stature-overweight syndrome, X-linked intellectual disability-short stature-overweight syndrome
Health Risk
RS1556015593
Likely pathogenic
X-linked intellectual disability-short stature-overweight syndrome, X-linked intellectual disability-short stature-overweight syndrome
Health Risk
RS1603246794
Likely pathogenic
X-linked intellectual disability-short stature-overweight syndrome, X-linked intellectual disability-short stature-overweight syndrome
Health Risk
RS1603326578
Likely pathogenic
X-linked intellectual disability-short stature-overweight syndrome, X-linked intellectual disability-short stature-overweight syndrome
Health Risk
RS2047177327
Likely pathogenic
X-linked intellectual disability-short stature-overweight syndrome, X-linked intellectual disability-short stature-overweight syndrome
Health Risk
RS2047665750
Likely pathogenic
X-linked intellectual disability-short stature-overweight syndrome, X-linked intellectual disability-short stature-overweight syndrome
Health Risk
RS2147617004
Likely pathogenic
X-linked intellectual disability-short stature-overweight syndrome, X-linked intellectual disability-short stature-overweight syndrome
Health Risk
RS2147667154
Likely pathogenic
X-linked intellectual disability-short stature-overweight syndrome, X-linked intellectual disability-short stature-overweight syndrome
Health Risk
RS2148016775
Likely pathogenic
X-linked intellectual disability-short stature-overweight syndrome, X-linked intellectual disability-short stature-overweight syndrome
Health Risk
All Variants (22)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1556036052 | Health Risk | Conflicting classifications of pathogenicity | X-linked intellectual disability-short stature-overweight syndrome, X-linked intellectual disability-short stature-overweight syndrome |
| RS1556302160 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, X-linked intellectual disability-short stature-overweight syndrome, Inborn genetic diseases |
| RS1603255389 | Health Risk | Conflicting classifications of pathogenicity | X-linked intellectual disability-short stature-overweight syndrome, X-linked intellectual disability-short stature-overweight syndrome |
| RS1556015437 | Health Risk | Likely pathogenic | X-linked intellectual disability-short stature-overweight syndrome, X-linked intellectual disability-short stature-overweight syndrome |
| RS1556015593 | Health Risk | Likely pathogenic | X-linked intellectual disability-short stature-overweight syndrome, X-linked intellectual disability-short stature-overweight syndrome |
| RS1603246794 | Health Risk | Likely pathogenic | X-linked intellectual disability-short stature-overweight syndrome, X-linked intellectual disability-short stature-overweight syndrome |
| RS1603326578 | Health Risk | Likely pathogenic | X-linked intellectual disability-short stature-overweight syndrome, X-linked intellectual disability-short stature-overweight syndrome |
| RS2047177327 | Health Risk | Likely pathogenic | X-linked intellectual disability-short stature-overweight syndrome, X-linked intellectual disability-short stature-overweight syndrome |
| RS2047665750 | Health Risk | Likely pathogenic | X-linked intellectual disability-short stature-overweight syndrome, X-linked intellectual disability-short stature-overweight syndrome |
| RS2147617004 | Health Risk | Likely pathogenic | X-linked intellectual disability-short stature-overweight syndrome, X-linked intellectual disability-short stature-overweight syndrome |
| RS2147667154 | Health Risk | Likely pathogenic | X-linked intellectual disability-short stature-overweight syndrome, X-linked intellectual disability-short stature-overweight syndrome |
| RS2148016775 | Health Risk | Likely pathogenic | X-linked intellectual disability-short stature-overweight syndrome, X-linked intellectual disability-short stature-overweight syndrome |
| RS2521055640 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2521056003 | Health Risk | Likely pathogenic | — |
| RS1556005930 | Health Risk | Pathogenic | X-linked intellectual disability-short stature-overweight syndrome, X-linked intellectual disability-short stature-overweight syndrome |
| RS1556023928 | Health Risk | Pathogenic | X-linked intellectual disability-short stature-overweight syndrome, X-linked intellectual disability-short stature-overweight syndrome |
| RS797045018 | Health Risk | Pathogenic | X-linked intellectual disability-short stature-overweight syndrome, X-linked intellectual disability-short stature-overweight syndrome |
| RS797045019 | Health Risk | Pathogenic | X-linked intellectual disability-short stature-overweight syndrome, X-linked intellectual disability-short stature-overweight syndrome |
| RS797045020 | Health Risk | Pathogenic | X-linked intellectual disability-short stature-overweight syndrome, X-linked intellectual disability-short stature-overweight syndrome |
| RS797045021 | Health Risk | Pathogenic | X-linked intellectual disability-short stature-overweight syndrome, X-linked intellectual disability-short stature-overweight syndrome |
| RS1556014935 | Health Risk | Pathogenic/Likely pathogenic | X-linked intellectual disability-short stature-overweight syndrome, X-linked intellectual disability-short stature-overweight syndrome |
| RS1556024875 | Health Risk | Pathogenic/Likely pathogenic | X-linked intellectual disability-short stature-overweight syndrome, X-linked intellectual disability-short stature-overweight syndrome |