NONO non-POU domain containing octamer binding
Gene ID: 4841, updated on 3-Nov-2024Gene type: protein coding
Also known as: P54; NMT55; NRB54; MRXS34; P54NRB; PPP1R114
- See all available tests in GTR for this gene
- Go to complete Gene record for NONO
- Go to Variation Viewer for NONO variants
Summary
This gene encodes an RNA-binding protein which plays various roles in the nucleus, including transcriptional regulation and RNA splicing. A rearrangement between this gene and the transcription factor E3 gene has been observed in papillary renal cell carcinoma. Alternatively spliced transcript variants have been described. Pseudogenes exist on Chromosomes 2 and 16. [provided by RefSeq, Feb 2009]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Syndromic X-linked intellectual disability 34 | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2024-07-24) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2024-07-24) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- Xq13.1
- Sequence:
- Chromosome: X; NC_000023.11 (71283635..71301168)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for NONO 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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