RBM8A Chromosome 1
RNA binding motif protein 8A
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What This Gene Does
This gene encodes a protein with a conserved RNA-binding motif. The protein is found predominantly in the nucleus, although it is also present in the cytoplasm. It is preferentially associated with mRNAs produced by splicing, including both nuclear mRNAs and newly exported cytoplasmic mRNAs. It is thought that the protein remains associated with spliced mRNAs as a tag to indicate where introns had been present, thus coupling pre- and post-mRNA splicing events. Previously, it was thought that two genes encode this protein, RBM8A and RBM8B; it is now thought that the RBM8B locus is a pseudogene. There are two alternate translation start codons with this gene, which result in two forms of the protein. An allele mutation and a low-frequency noncoding single-nucleotide polymorphism (SNP) in this gene cause thrombocytopenia-absent radius (TAR) syndrome. [provided by RefSeq, Jul 2013]
Gene Info
Gene Group
"RNA binding motif containing|Exon junction complex|Spliceosomal P complex"
Locus Type
gene with protein product
Location
1q21.1
Ensembl
ENSG00000265241
Associated Conditions (6)
Radial aplasia-thrombocytopenia syndrome
RBM8A-related disorder
Inborn genetic diseases
Global developmental delay
Clinodactyly of the 5th finger
Abnormal brain morphology
Key Variants
RS139428292
Conflicting classifications of pathogenicity; other
Radial aplasia-thrombocytopenia syndrome, RBM8A-related disorder, Inborn genetic diseases
Health Risk
RS1648166006
Likely pathogenic
Radial aplasia-thrombocytopenia syndrome, Radial aplasia-thrombocytopenia syndrome
Health Risk
RS12079762
Pathogenic
Radial aplasia-thrombocytopenia syndrome, RBM8A-related disorder, Inborn genetic diseases
Health Risk
RS1313663918
Pathogenic
Health Risk
RS1350809730
Pathogenic
Radial aplasia-thrombocytopenia syndrome, Radial aplasia-thrombocytopenia syndrome
Health Risk
RS1553756157
Pathogenic
Radial aplasia-thrombocytopenia syndrome, Radial aplasia-thrombocytopenia syndrome
Health Risk
RS1648185461
Pathogenic
Radial aplasia-thrombocytopenia syndrome, Radial aplasia-thrombocytopenia syndrome
Health Risk
RS2101877791
Pathogenic
Radial aplasia-thrombocytopenia syndrome, Radial aplasia-thrombocytopenia syndrome
Health Risk
RS397515388
Pathogenic
Radial aplasia-thrombocytopenia syndrome, Radial aplasia-thrombocytopenia syndrome
Health Risk
RS397515389
Pathogenic
Radial aplasia-thrombocytopenia syndrome, Radial aplasia-thrombocytopenia syndrome
Health Risk
RS760383043
Pathogenic
Radial aplasia-thrombocytopenia syndrome, Radial aplasia-thrombocytopenia syndrome, Radial aplasia-thrombocytopenia syndrome
Health Risk
RS201779890
Pathogenic/Likely pathogenic/Pathogenic, low penetrance
Radial aplasia-thrombocytopenia syndrome, Global developmental delay, Clinodactyly of the 5th finger
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139428292 | Health Risk | Conflicting classifications of pathogenicity; other | Radial aplasia-thrombocytopenia syndrome, RBM8A-related disorder, Inborn genetic diseases |
| RS1648166006 | Health Risk | Likely pathogenic | Radial aplasia-thrombocytopenia syndrome, Radial aplasia-thrombocytopenia syndrome |
| RS12079762 | Health Risk | Pathogenic | Radial aplasia-thrombocytopenia syndrome, RBM8A-related disorder, Inborn genetic diseases |
| RS1313663918 | Health Risk | Pathogenic | — |
| RS1350809730 | Health Risk | Pathogenic | Radial aplasia-thrombocytopenia syndrome, Radial aplasia-thrombocytopenia syndrome |
| RS1553756157 | Health Risk | Pathogenic | Radial aplasia-thrombocytopenia syndrome, Radial aplasia-thrombocytopenia syndrome |
| RS1648185461 | Health Risk | Pathogenic | Radial aplasia-thrombocytopenia syndrome, Radial aplasia-thrombocytopenia syndrome |
| RS2101877791 | Health Risk | Pathogenic | Radial aplasia-thrombocytopenia syndrome, Radial aplasia-thrombocytopenia syndrome |
| RS397515388 | Health Risk | Pathogenic | Radial aplasia-thrombocytopenia syndrome, Radial aplasia-thrombocytopenia syndrome |
| RS397515389 | Health Risk | Pathogenic | Radial aplasia-thrombocytopenia syndrome, Radial aplasia-thrombocytopenia syndrome |
| RS760383043 | Health Risk | Pathogenic | Radial aplasia-thrombocytopenia syndrome, Radial aplasia-thrombocytopenia syndrome, Radial aplasia-thrombocytopenia syndrome |
| RS201779890 | Health Risk | Pathogenic/Likely pathogenic/Pathogenic, low penetrance | Radial aplasia-thrombocytopenia syndrome, Global developmental delay, Clinodactyly of the 5th finger |