SART3 Chromosome 12
Spliceosome associated factor 3, U4/U6 recycling protein
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What This Gene Does
The protein encoded by this gene is an RNA-binding nuclear protein that is a tumor-rejection antigen. This antigen possesses tumor epitopes capable of inducing HLA-A24-restricted and tumor-specific cytotoxic T lymphocytes in cancer patients and may be useful for specific immunotherapy. This gene product is found to be an important cellular factor for HIV-1 gene expression and viral replication. It also associates transiently with U6 and U4/U6 snRNPs during the recycling phase of the spliceosome cycle. This encoded protein is thought to be involved in the regulation of mRNA splicing. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
RNA binding motif containing
Locus Type
gene with protein product
Location
12q23.3
Ensembl
ENSG00000075856
Associated Conditions (3)
Intellectual disability
Neurodevelopmental defects and Developmental delay with 46
XY gonadal dysgenesis
Key Variants
RS1360428152
Likely pathogenic
Intellectual disability, Neurodevelopmental defects and Developmental delay with 46, XY gonadal dysgenesis
Health Risk
RS1377925264
Likely pathogenic
Intellectual disability, Neurodevelopmental defects and Developmental delay with 46, XY gonadal dysgenesis
Health Risk
RS2540734022
Likely pathogenic
Intellectual disability, Neurodevelopmental defects and Developmental delay with 46, XY gonadal dysgenesis
Health Risk
RS2540742712
Likely pathogenic
Intellectual disability, Neurodevelopmental defects and Developmental delay with 46, XY gonadal dysgenesis
Health Risk
RS2540753340
Likely pathogenic
Intellectual disability, Neurodevelopmental defects and Developmental delay with 46, XY gonadal dysgenesis
Health Risk
RS747354165
Likely pathogenic
Intellectual disability, Neurodevelopmental defects and Developmental delay with 46, XY gonadal dysgenesis
Health Risk
RS759058288
Likely pathogenic
Intellectual disability, Neurodevelopmental defects and Developmental delay with 46, XY gonadal dysgenesis
Health Risk
RS779659299
Likely pathogenic
Intellectual disability, Neurodevelopmental defects and Developmental delay with 46, XY gonadal dysgenesis
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1360428152 | Health Risk | Likely pathogenic | Intellectual disability, Neurodevelopmental defects and Developmental delay with 46, XY gonadal dysgenesis |
| RS1377925264 | Health Risk | Likely pathogenic | Intellectual disability, Neurodevelopmental defects and Developmental delay with 46, XY gonadal dysgenesis |
| RS2540734022 | Health Risk | Likely pathogenic | Intellectual disability, Neurodevelopmental defects and Developmental delay with 46, XY gonadal dysgenesis |
| RS2540742712 | Health Risk | Likely pathogenic | Intellectual disability, Neurodevelopmental defects and Developmental delay with 46, XY gonadal dysgenesis |
| RS2540753340 | Health Risk | Likely pathogenic | Intellectual disability, Neurodevelopmental defects and Developmental delay with 46, XY gonadal dysgenesis |
| RS747354165 | Health Risk | Likely pathogenic | Intellectual disability, Neurodevelopmental defects and Developmental delay with 46, XY gonadal dysgenesis |
| RS759058288 | Health Risk | Likely pathogenic | Intellectual disability, Neurodevelopmental defects and Developmental delay with 46, XY gonadal dysgenesis |
| RS779659299 | Health Risk | Likely pathogenic | Intellectual disability, Neurodevelopmental defects and Developmental delay with 46, XY gonadal dysgenesis |