RNU4ATAC RNA, U4atac small nuclear
Gene ID: 100151683, updated on 17-Dec-2023Gene type: snRNA
Also known as: LWS; RFMN; TALS; MOPD1; U4ATAC; RNU4ATAC1
- See all available tests in GTR for this gene
- Go to complete Gene record for RNU4ATAC
- Go to Variation Viewer for RNU4ATAC variants
Summary
The small nuclear RNA (snRNA) encoded by this gene is part of the U12-dependent minor spliceosome complex. In addition to the encoded RNA, this ribonucleoprotein complex consists of U11, U12, U5, and U6atac snRNAs. The U12-dependent spliceosome acts on approximately 700 specific introns in the human genome. Defects in this gene are a cause of microcephalic osteodysplastic primordial dwarfism type 1 (MOPD). [provided by RefSeq, Jul 2011]
Associated conditions
Genomic context
- Location:
- 2q14.2
- Sequence:
- Chromosome: 2; NC_000002.12 (121530880..121531009)
- Total number of exons:
- 1
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for RNU4ATAC variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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