WBP11 WW domain binding protein 11
Gene ID: 51729, updated on 3-Nov-2024Gene type: protein coding
Also known as: BUG13; FAP90; NPWBP; SIPP1; VCTRL; CFAP90; VCTERL; WBP-11; PPP1R165
- See all available tests in GTR for this gene
- Go to complete Gene record for WBP11
- Go to Variation Viewer for WBP11 variants
Summary
This gene encodes a nuclear protein, which colocalizes with mRNA splicing factors and intermediate filament-containing perinuclear networks. This protein has 95% amino acid sequence identity to the mouse Wbp11 protein. It contains two proline-rich regions that bind to the WW domain of Npw38, a nuclear protein, and thus this protein is also called Npw38-binding protein NpwBP. The Npw38-NpwBP complex may function as a component of an mRNA factory in the nucleus. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Vertebral, cardiac, tracheoesophageal, renal, and limb defects | not available |
Genomic context
- Location:
- 12p12.3
- Sequence:
- Chromosome: 12; NC_000012.12 (14784582..14803478, complement)
- Total number of exons:
- 12
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for WBP11 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
- Variation ViewerRelated Variants
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