SP110 SP110 nuclear body protein
Gene ID: 3431, updated on 3-Apr-2024Gene type: protein coding
Also known as: IPR1; VODI; IFI41; IFI75
- See all available tests in GTR for this gene
- Go to complete Gene record for SP110
- Go to Variation Viewer for SP110 variants
Summary
The nuclear body is a multiprotein complex that may have a role in the regulation of gene transcription. This gene is a member of the SP100/SP140 family of nuclear body proteins and encodes a leukocyte-specific nuclear body component. The protein can function as an activator of gene transcription and may serve as a nuclear hormone receptor coactivator. In addition, it has been suggested that the protein may play a role in ribosome biogenesis and in the induction of myeloid cell differentiation. Alternative splicing has been observed for this gene and three transcript variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia. GeneReviews: Not available | |
| A genome-wide association study identifies six susceptibility loci for chronic lymphocytic leukemia. GeneReviews: Not available | |
| Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic leukemia. GeneReviews: Not available | |
| Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia. GeneReviews: Not available | |
| Hepatic veno-occlusive disease-immunodeficiency syndrome | See labs |
| Mycobacterium tuberculosis, susceptibility to | See labs |
| Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available |
Genomic context
- Location:
- 2q37.1
- Sequence:
- Chromosome: 2; NC_000002.12 (230165186..230225636, complement)
- Total number of exons:
- 24
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SP110 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
- SP110 database
- SP110base
- Variation ViewerRelated Variants
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