|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
PLC-beta-4
phosphoinositide phospholipase C-beta-4
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
Epilepsy
auriculocondylar syndrome 2
|
|
gptkbp:discoveredIn
|
1996
|
|
gptkbp:domain
|
gptkb:PH_domain
gptkb:EF-hand_domain
C2 domain
X and Y catalytic domains
|
|
gptkbp:encodes
|
phospholipase C beta-4
|
|
gptkbp:Entrez_Gene_ID
|
5331
ENSG00000109445
|
|
gptkbp:expressedIn
|
brain
retina
|
|
gptkbp:fullName
|
phospholipase C beta 4
|
|
gptkbp:function
|
generates second messengers IP3 and DAG
hydrolyzes phosphatidylinositol 4,5-bisphosphate
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasPseudogene
|
no
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
9067
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
PLCB4
|
|
gptkbp:interactsWith
|
gptkb:GNA11
gptkb:GNAQ
calcium ions
|
|
gptkbp:involvedIn
|
signal transduction
|
|
gptkbp:length
|
1175 amino acids
|
|
gptkbp:locatedOnChromosome
|
20p12.3
|
|
gptkbp:molecularWeight
|
134 kDa
|
|
gptkbp:mutationAssociatedWith
|
can cause developmental disorders
can cause craniofacial abnormalities
|
|
gptkbp:OMIM
|
600810
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Plcb4
|
|
gptkbp:pathway
|
calcium signaling pathway
G-protein coupled receptor signaling pathway
phosphoinositide signaling system
|
|
gptkbp:product
|
multi-domain
|
|
gptkbp:proteinFamily
|
phospholipase C beta family
|
|
gptkbp:referenceGenome
|
gptkb:GRCh38
|
|
gptkbp:regulates
|
activated by G-protein alpha subunits
activated by calcium ions
|
|
gptkbp:subcellularLocation
|
gptkb:cytoplasm
gptkb:plasma_membrane
|
|
gptkbp:targetOfDrug
|
no approved drugs
|
|
gptkbp:UniProtID
|
Q15147
|
|
gptkbp:bfsParent
|
gptkb:phospholipase_C
|
|
gptkbp:bfsLayer
|
6
|