PLCH2 (phospholipase C eta 2)

2014-11-01  

Identity

HGNC
LOCATION
1p36.32
LOCUSID
ALIAS
PLC-L4,PLC-eta2,PLCL4,PLCeta2
FUSION GENES

Other Information

Locus ID:

NCBI: 9651
MIM: 612836
HGNC: 29037
Ensembl: ENSG00000149527

Variants:

dbSNP: 9651
ClinVar: 9651
TCGA: ENSG00000149527
COSMIC: PLCH2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000149527ENST00000278878B9DI82
ENSG00000149527ENST00000378486O75038
ENSG00000149527ENST00000419816O75038
ENSG00000149527ENST00000449969O75038
ENSG00000149527ENST00000609981V9GY64

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
Inositol phosphate metabolismKEGGko00562
Inositol phosphate metabolismKEGGhsa00562
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Inositol phosphate metabolismREACTOMER-HSA-1483249
Synthesis of IP3 and IP4 in the cytosolREACTOMER-HSA-1855204

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA26097CASRGenePathwayassociated
PA33759PRKCAGenePathwayassociated
PA33761PRKCBGenePathwayassociated
PA33766PRKCGGenePathwayassociated
PA33767PRKCHGenePathwayassociated
PA33768PRKCIGenePathwayassociated
PA33771PRKD1GenePathwayassociated
PA33775PRKCZGenePathwayassociated

References

Pubmed IDYearTitleCitations
158999002005A novel phospholipase C, PLC(eta)2, is a neuron-specific isozyme.25
161072062005Molecular cloning and characterization of PLC-eta2.19
183615072008Activation of human phospholipase C-eta2 by Gbetagamma.14
155838372005Identification of a novel class of mammalian phosphoinositol-specific phospholipase C enzymes.11
214749382011Role of phosphoinositide-specific phospholipase C η2 in isolated and syndromic mental retardation.4
206494012010Investigating SNPs flanking the D1S80 locus in a Tamil population from India.1

Citation

Dessen P

PLCH2 (phospholipase C eta 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71969/plch2