PBRM1 polybromo 1
Gene ID: 55193, updated on 5-May-2024Gene type: protein coding
Also known as: PB1; RCC; BAF180; SMARCH1
- See all available tests in GTR for this gene
- Go to complete Gene record for PBRM1
- Go to Variation Viewer for PBRM1 variants
Summary
This locus encodes a subunit of ATP-dependent chromatin-remodeling complexes. The encoded protein has been identified as in integral component of complexes necessary for ligand-dependent transcriptional activation by nuclear hormone receptors. Mutations at this locus have been associated with primary clear cell renal cell carcinoma. [provided by RefSeq, Feb 2012]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Biological insights from 108 schizophrenia-associated genetic loci. GeneReviews: Not available | |
| Genome-wide association analysis identifies 13 new risk loci for schizophrenia. GeneReviews: Not available | |
| Genome-wide association of mood-incongruent psychotic bipolar disorder. GeneReviews: Not available | |
| Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study. GeneReviews: Not available | |
| Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. GeneReviews: Not available | |
| Meta-analysis of genome-wide association data identifies a risk locus for major mood disorders on 3p21.1. GeneReviews: Not available | |
| Nonpapillary renal cell carcinoma | See labs |
| Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. GeneReviews: Not available |
Genomic context
- Location:
- 3p21.1
- Sequence:
- Chromosome: 3; NC_000003.12 (52545367..52685913, complement)
- Total number of exons:
- 39
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PBRM1 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
- PBRM1 @ LOVD
- 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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