PLCB3 - phospholipase C beta 3 Gene

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

PLCB3 Protein Structure

EF-hand_like

PI-PLC-X

PI-PLC-Y

DUF1154

PLC-beta_C

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		/	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

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