2. Gene
  3. PLCB3 - phospholipase C beta 3 Gene

PLCB3 - phospholipase C beta 3 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as SMDCD

Gene ID: 5331 | Gene type: protein coding

About PLCB3

Cytogenetic location: 11q13.1 Genomic coordinates (GRCh38): 11:64,251,530-64,269,452 (from NCBI)

This gene has 4 transcripts (splice variants), 180 orthologues, 14 paralogues and is associated with 3 phenotypes. Broad expression in duodenum (RPKM 38.8), small intestine (RPKM 36.6) and 18 other tissues.

Summary

This gene encodes a member of the phosphoinositide Phospholipase C beta Enzyme family that catalyze the production of the secondary messengers diacylglycerol and inositol 1,4,5-triphosphate from phosphatidylinositol in G-protein-linked receptor-mediated signal transduction. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

PLCB3 Products(3)

mRNA Protein Name
NM_000932.5 NP_000923.1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3 isoform 1
NM_001184883.2 NP_001171812.1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3 isoform 2
NM_001316314.3 NP_001303243.1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3 isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables calmodulin binding IDA
IDA: Inferred from direct assay
12821674 GOA
enables molecular adaptor activity EXP
EXP: Inferred from Experiment
23377541 GOA
enables molecular adaptor activity IDA
IDA: Inferred from direct assay
23377541 GOA
enables molecular function activator activity EXP
EXP: Inferred from Experiment
23377541 GOA
enables phosphatidylinositol phospholipase C activity IDA
IDA: Inferred from direct assay
9188725 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
21822282 GOA
Biological Process GO Annotation Evidence Reference Source
involved in phosphatidylinositol metabolic process IDA
IDA: Inferred from direct assay
9188725 GOA
involved in phospholipase C-activating G protein-coupled receptor signaling pathway IDA
IDA: Inferred from direct assay
20966218 GOA
involved in phospholipase C-activating serotonin receptor signaling pathway IDA
IDA: Inferred from direct assay
20966218 GOA
acts upstream of or within regulation of systemic arterial blood pressure IDA
IDA: Inferred from direct assay
18468998 GOA
Cellular Component GO Annotation Evidence Reference Source
is active in cytoplasm IDA
IDA: Inferred from direct assay
29122926 GOA
part of protein-containing complex IDA
IDA: Inferred from direct assay
18468998 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PLCB3 Protein Structure

EF-hand_like

EF-hand_like: Phosphoinositide-specific phospholipase C, efhand-like (225 - 314)

PI-PLC-X

PI-PLC-X: Phosphatidylinositol-specific phospholipase C, X domain (319 - 469)

PI-PLC-Y

PI-PLC-Y: Phosphatidylinositol-specific phospholipase C, Y domain (589 - 706)

C2

C2: C2 domain (728 - 801)

DUF1154

DUF1154: Protein of unknown function (DUF1154) (948 - 983)

PLC-beta_C

PLC-beta_C: PLC-beta C terminal (1025 - 1200)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1234 a.a.
Protein Preferred Names Protein Names

1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3

PLC beta 3

Related Diseases

Diseases Alias
Spondylometaphyseal Dysplasia With Corneal Dystrophy

SMDCD

Spondylometaphyseal Dysplasia-Corneal Dystrophy Syndrome

Smd-Corneal Dystrophy Syndrome
Multiple Endocrine Neoplasia

Men

Multiple Endocrine Adenomatosis

Multiple Endocrine Neoplasia Syndrome

Adenomatosis, Familial Endocrine

Endocrine Neoplasia, Multiple

Familial Endocrine Adenomatosis

Mea

Multiple Endocrine Neoplasms

Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia, Type I

Multiple Endocrine Neoplasia Type 1

MEN1

Wermer Syndrome

Multiple Endocrine Neoplasia 1

Multiple Endocrine Neoplasia, Type 1

Men I

Endocrine Adenomatosis, Multiple

Mea I

Men Type I

Wermer'S Syndrome

Men1 Syndrome

Multiple Endocrine Adenomatosis

Endocrine Adenomatosis Multiple

Men 1

Familial Multiple Endocrine Neoplasia Type I

Neoplasia, Endocrine, Multiple, Type 1

Multiple Endocrine Neoplasia
Corneal Dystrophy
Spinocerebellar Ataxia, Autosomal Recessive 13

Autosomal Recessive Spinocerebellar Ataxia 13

SCAR13

Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency

Autosomal Recessive Congenital Cerebellar Ataxia Due To Metabotropic Glutamate Receptor 1 Deficiency

Autosomal Recessive Spinocerebellar Ataxia Type 13

Spinocerebellar Ataxia, Autosomal Recessive, 13

Ataxia, Spinocerebellar, Autosomal Recessive, Type 13
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS10654 PLCB3 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus PLCB3 VGNC VGNC:68894
Bos taurus PLCB3 VGNC VGNC:32982
Macaca mulatta PLCB3 VGNC VGNC:76165
Canis familiaris PLCB3 VGNC VGNC:52035
Mus musculus PLCB3 MGD MGI:104778
Rattus norvegicus PLCB3 RGD RGD:61993