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Gene Symbol |
PLCB2 |
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Aliases |
PLC-beta-2 |
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Entrez Gene ID |
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Gene Name |
Phospholipase C beta 2 |
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Chromosomal Location |
15q15.1 |
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HGNC ID |
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Summary |
The protein encoded by this gene is a phosphodiesterase that catalyzes the hydrolysis of phosphatidylinositol 4,5-bisphosphate to the second messengers inositol 1,4,5-trisphosphate (IP3) and diacylglycerol. The encoded protein is activated by G proteins and has been shown to be involved in the type 2 taste receptor signal transduction pathway. In addition, nuclear factor kappa B can regulate the transcription of this gene, whose protein product is also an important regulator of platelet responses. [provided by RefSeq, Jan 2017]
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RefSeq DNA |
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RefSeq mRNA |
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e!Ensembl
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| Protein Information |
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Protein Name |
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2, phosphoinositide phospholipase C-beta-2 |
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Function |
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The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. |
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UniProt |
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PDB |
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Interactions |
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| STRING |
MINT |
IntAct |
| ENSP00000265354 |
P11831 |
P11831 |
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View interactions
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Associated Diseases
| Disease group | Disease Name | References |
| Blood Disorders |
| Bernard Soulier Syndrome |
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| Cardiovascular Diseases |
| Myocardial Infarction |
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| Left Ventricular Hypertrophy |
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| Digestive System Diseases |
| Liver Cirrhosis |
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| Inflammatory Bowel Diseases |
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| Endocrine System Diseases |
| PCOS |
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| Neoplasms |
| Liver Cancer |
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| Lung Cancer |
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| Thyroid Cancer |
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| Leukemia |
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| Bladder Cancer |
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| Psychiatric/Brain disorders |
| Behavior Disorders |
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| Skin and Connective Tissue Diseases |
| Bleeding Disorder |
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References |
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| Shim Unjin, Kim Han-Na, Lee Hyejin, Oh Jee-Young, Sung Yeon-Ah, Kim Hyung-Lae |
| Department of Internal Medicine, Seoul Seonam Hospital, Ewha Womans University Medical Center, Seoul, Korea.| Department of Biochemistry, Ewha Womans University School of Medicine, Seoul, Korea.| Department of Internal Medicine, Ewha Womans University School of Medicine, Seoul, Korea.| Department of Internal Medicine, Ewha Womans University School of Medicine, Seoul, Korea.| Department of Internal Medicine, Ewha Womans University School of Medicine, Seoul, Korea.| Department of Biochemistry, Ewha Womans University School of Medicine, Seoul, Korea. |
| PLoS One. 2015 Aug 26;10(8):e0136609. doi: 10.1371/journal.pone.0136609. |
Abstract
BACKGROUND: Polycystic ovary syndrome (PCOS) is one of the most common endocrine disorders in women of reproductive age, and it is affected by both environmental and genetic factors. Although the genetic component of PCOS is evident, studies aiming to identify susceptibility genes have shown controversial results. This study conducted a pathway-based analysis using a dataset obtained through a genome-wide association study (GWAS) to elucidate the biological pathways that contribute to PCOS susceptibility and the associated genes. METHODS: We used GWAS data on 636,797 autosomal single nucleotide polymorphisms (SNPs) from 1,221 individuals (432 PCOS patients and 789 controls) for analysis. A pathway analysis was conducted using meta-analysis gene-set enrichment of variant associations (MAGENTA). Top-ranking pathways or gene sets associated with PCOS were identified, and significant genes within the pathways were analyzed. RESULTS: The pathway analysis of the GWAS dataset identified significant pathways related to oocyte meiosis and the regulation of insulin secretion by acetylcholine and free fatty acids (all nominal gene-set enrichment analysis (GSEA) P-values < 0.05). In addition, INS, GNAQ, STXBP1, PLCB3, PLCB2, SMC3 and PLCZ1 were significant genes observed within the biological pathways (all gene P-values < 0.05). CONCLUSIONS: By applying MAGENTA pathway analysis to PCOS GWAS data, we identified significant pathways and candidate genes involved in PCOS. Our findings may provide new leads for understanding the mechanisms underlying the development of PCOS. |
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| © 2019, Biomedical Informatics Centre, NIRRH |
National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400 012
Tel: 91-22-24192104, Fax No: 91-22-24139412
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