phospholipase C beta 3

Summary
Gene Symbol
  • PLCB3
Organism
Homo sapiens (human)
NCBI Gene
5331
HGNC
9056
KEGG Gene ID
hsa:5331
PubChem
5331
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Alternative splicing
  • Calcium
  • Cytoplasm
  • Dwarfism
  • Hydrolase
  • Lipid degradation
  • Membrane
  • Nucleus
  • Phosphoprotein
  • Reference proteome
  • Transducer
Proteins
Displaying 1 entry
UniProt Protein Name
Q01970
  • Phosphoinositide phospholipase C-beta-3
  • Phospholipase C-beta-3
Gene Ontology (GO)
GO Hierarchy
KEGG BRITE Database
Orthology
K05858
Name
phosphatidylinositol phospholipase C, beta [EC:3.1.4.11]
References
Disease
Disease Ontology
Displaying all 3 entries
DO ID Disease Name Source
DOID:0112303 spondylometaphyseal dysplasia with corneal dystrophy
DOID:5844 myocardial infarction
DOID:9970 obesity
The Human Phenotype Ontology
Displaying entries 11 - 20 of 23 in total
HPO ID HPO Term
HP:0003016 Metaphyseal widening
HP:0003026 Short long bone
HP:0003177 Squared iliac bones
HP:0003196 Short nose
HP:0003819 Death in childhood
HP:0004568 Beaking of vertebral bodies
HP:0004592 Thoracic platyspondyly
HP:0005280 Depressed nasal bridge
HP:0005787 Lumbar platyspondyly
HP:0007957 Corneal opacity
Displaying 1 entry
Disease ID Disease Name
OMIM:618961
  • spondylometaphyseal dysplasia with corneal dystrophy
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP002106
Gene Name
phospholipase C, beta 3 (phosphatidylinositol-specific)

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024