RBM28 Chromosome 7
RNA binding motif protein 28
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What This Gene Does
The protein encoded by this gene is a specific nucleolar component of the spliceosomal small nuclear ribonucleoprotein (snRNP)complexes . It specifically associates with U1, U2, U4, U5, and U6 small nuclear RNAs (snRNAs), possibly coordinating their transition through the nucleolus. Mutation in this gene causes alopecia, progressive neurological defects, and endocrinopathy (ANE syndrome), a pleiotropic and clinically heterogeneous disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Gene Info
Gene Group
RNA binding motif containing
Locus Type
gene with protein product
Location
7q32.1
Ensembl
ENSG00000106344
Associated Conditions (5)
Ovarian serous cystadenocarcinoma
Thyroid cancer
nonmedullary
1
ANE syndrome
Key Variants
RS138007655
Conflicting classifications of pathogenicity
Ovarian serous cystadenocarcinoma, Thyroid cancer, nonmedullary
Health Risk
RS1427042125
Likely pathogenic
ANE syndrome, ANE syndrome
Health Risk
RS753705888
Likely pathogenic
ANE syndrome, ANE syndrome
Health Risk
RS118204055
Pathogenic
ANE syndrome, ANE syndrome
Health Risk
RS1584663340
Pathogenic
ANE syndrome, ANE syndrome
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138007655 | Health Risk | Conflicting classifications of pathogenicity | Ovarian serous cystadenocarcinoma, Thyroid cancer, nonmedullary |
| RS1427042125 | Health Risk | Likely pathogenic | ANE syndrome, ANE syndrome |
| RS753705888 | Health Risk | Likely pathogenic | ANE syndrome, ANE syndrome |
| RS118204055 | Health Risk | Pathogenic | ANE syndrome, ANE syndrome |
| RS1584663340 | Health Risk | Pathogenic | ANE syndrome, ANE syndrome |