PLCH2 - phospholipase C eta 2 Gene
Also Known as PLCL4; PLC-L4; PLCeta2; PLC-eta2
Species: Homo sapiens
About PLCH2
This gene has 8 transcripts (splice variants), 1 gene allele, 258 orthologues and 14 paralogues. Biased expression in skin (RPKM 13.2), brain (RPKM 3.0) and 10 other tissues.
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]
PLCH2 Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001303012.2 | NP_001289941.1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2 isoform 2 |
| NM_001303013.1 | NP_001289942.1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2 isoform 3 |
| NM_014638.4 | NP_055453.2 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2 isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables phosphatidylinositol phospholipase C activity |
IDA
IDA: Inferred from direct assay
|
18361507 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in phospholipase C-activating G protein-coupled receptor signaling pathway |
IDA
IDA: Inferred from direct assay
|
18361507 | GOA |
PLCH2 Protein Structure
EF-hand_7: EF-hand domain pair (174 - 235)
EF-hand_like: Phosphoinositide-specific phospholipase C, efhand-like (243 - 325)
PI-PLC-X: Phosphatidylinositol-specific phospholipase C, X domain (328 - 472)
PI-PLC-Y: Phosphatidylinositol-specific phospholipase C, Y domain (626 - 739)
C2: C2 domain (760 - 851)
- 0
- 300
- 600
- 900
- 1200
- 1416 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Hypocalcemia, Autosomal Dominant 2 |
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| Chromosome 1p36 Deletion Syndrome |
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