| Entrez Gene ID | 9651 |
|---|---|
| Official Gene Symbol | PLCH2 (GeneCards) |
| Full name | phospholipase C eta 2 |
| Location | 1p36.32 |
| Other ids | Vega : OTTHUMG00000000719 MIM : 612836 HGNC : HGNC:29037 Ensembl : ENSG00000149527 |
| Other names | PLCL4, PLC-L4, PLCeta2, PLC-eta2 |
| Summary | PLCH2 is a member of the PLC-eta family of the phosphoinositide-specific phospholipase C (PLC) superfamily of enzymes that cleave PtdIns(4,5) P2 to generate second messengers inositol 1,4,5-trisphosphate and diacylglycerol (Zhou et al., 2005 [PubMed 16107206]).[supplied by OMIM, Jun 2009] |
Found 2 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 29205 | 9651 | PLCH2 | 1 | 2411622 | 2411622 | Autism Spectrum Disorders | PASM |
| 29438 | 9651 | PLCH2 | 1 | 2411622 | 2411622 | Autism Spectrum Disorders | PASM MiSeq |