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 1 - 10 of 23 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000316 Hypertelorism
HP:0000463 Anteverted nares
HP:0000520 Proptosis
HP:0000773 Short ribs
HP:0000774 Narrow chest
HP:0001156 Brachydactyly
HP:0001319 Neonatal hypotonia
HP:0001643 Patent ductus arteriosus
HP:0002643 Neonatal respiratory distress
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