PLCB1 phospholipase C beta 1
Gene ID: 23236, updated on 27-Nov-2024Gene type: protein coding
Also known as: DEE12; PLC-I; EIEE12; PI-PLC; PLC154; PLCB1A; PLCB1B; PLC-154; PLC-beta-1
- See all available tests in GTR for this gene
- Go to complete Gene record for PLCB1
- Go to Variation Viewer for PLCB1 variants
Summary
The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of many extracellular signals. This gene is activated by two G-protein alpha subunits, alpha-q and alpha-11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study for irinotecan-related severe toxicities in patients with advanced non-small-cell lung cancer. GeneReviews: Not available | |
| A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. GeneReviews: Not available | |
| Common genetic variation and performance on standardized cognitive tests. GeneReviews: Not available | |
| Developmental and epileptic encephalopathy, 12 | See labs |
| Genome-wide association analyses in East Asians identify new susceptibility loci for colorectal cancer. GeneReviews: Not available | |
| TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression. GeneReviews: Not available | |
| Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence. GeneReviews: Not available |
Genomic context
- Location:
- 20p12.3
- Sequence:
- Chromosome: 20; NC_000020.11 (8132266..8884900)
- Total number of exons:
- 33
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PLCB1 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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