SMPD3 - sphingomyelin phosphodiesterase 3 Gene

Homo sapiens

Also known as NSMASE2

Gene ID: 55512 | Gene type: protein coding

About SMPD3

Cytogenetic location: 16q22.1 Genomic coordinates (GRCh38): 16:68,358,327-68,448,508 (from NCBI)

This gene has 12 transcripts (splice variants) and 205 orthologues. Biased expression in duodenum (RPKM 22.0), small intestine (RPKM 21.4) and 11 other tissues.

Summary

Predicted to enable phosphatidic acid binding activity; phosphatidylserine binding activity; and sphingomyelin phosphodiesterase activity. Predicted to be involved in positive regulation of exosomal secretion and sphingomyelin metabolic process. Predicted to act upstream of or within several processes, including animal organ development; Enzyme linked receptor protein signaling pathway; and sphingolipid metabolic process. Predicted to be located in Golgi apparatus and plasma membrane. Predicted to be active in cytoplasm. Biomarker of pulmonary emphysema. [provided by Alliance of Genome Resources, Apr 2022]

SMPD3 Products(1)

mRNA	Protein	Name
NM_018667.4	NP_061137.1	sphingomyelin phosphodiesterase 3

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables phosphoric diester hydrolase activity	IDA IDA: Inferred from direct assay	14741383	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	20080539	GOA
enables sphingomyelin phosphodiesterase activity	IDA IDA: Inferred from direct assay	14741383	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in sphingomyelin catabolic process	IDA IDA: Inferred from direct assay	14741383	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

SMPD3 Protein Structure

Exo_endo_phos

0
200
400
600
655 a.a.

Protein Preferred Names

Protein Names

sphingomyelin phosphodiesterase 3

nSMase-2

SMPD3 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	SMPD3	Q9NY59	EED	Homo sapiens	O75530	Anti Bait CoIP	20080539

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Pituitary Hormone Deficiency, Combined, 2

Panhypopituitarism	Combined Pituitary Hormone Deficiency
CPHD2	Ateliotic Dwarfism With Hypogonadism
Pituitary Dwarfism Iii	Hanhart Dwarfism
Simmond'S Disease	Simmonds' Disease
Cphd	Pituitary Hormone Deficiency, Combined
Hormone Deficiency, Pituitary, Combined, Type 2	Pituitary Dwarfism Type 3
Sheehan Syndrome

Dentinogenesis Imperfecta

Hereditary Opalescent Dentin	Dentinogenesis Imperfecta Without Osteogenesis Imperfecta
Dgi	Capdepont Teeth
Dgi Without Oi	Di
Non-Syndromic Dgi	Non-Syndromic Dentinogenesis Imperfecta
Opalescent Teeth Without Oi	Opalescent Teeth Without Osteogenesis Imperfecta
Opalescent Dentin

Isolated Growth Hormone Deficiency, Type Ia

Ighd Ia	Primordial Dwarfism
Isolated Growth Hormone Deficiency Type Ia	Sexual Ateleiotic Dwarfism
Pituitary Dwarfism I	IGHD1A
Illig-Type Growth Hormone Deficiency	Growth Hormone Deficiency, Isolated, Type Ia
Congenital Ighd Type Ia	Congenital Isolated Gh Deficiency Type Ia
Congenital Isolated Growth Hormone Deficiency Type Ia	Pituitary Dwarfism 1
Growth Hormone Deficiency, Isolated, Autosomal Recessive	Autosomal Recessive Isolated Growth Hormone Deficiency
Isolated Growth Hormone Deficiency Type 1a	Congenital Ighd
Congenital Isolated Gh Deficiency	Congenital Isolated Growth Hormone Deficiency
Growth Hormone Deficiency, Isolated Autosomal Recessive	Illig Type Growth Hormone Deficiency
Non-Acquired Isolated Growth Hormone Deficiency	Growth Hormone Deficiency, Isolated, 1a
Growth Hormone Deficiency Isolated Autosomal Recessive	Dwarfism, Primordial
Dwarfism

Niemann-Pick Disease

Sphingomyelin/Cholesterol Lipidosis	Niemann-Pick Diseases
Lipoid Histiocytosis	Sphingomyelin Lipidosis
Sphingomyelinase Deficiency Disease	Lipid Histiocytosis
Neuronal Cholesterol Lipidosis	Neuronal Lipidosis
Npd	Sphingomyelinase Deficiency
Niemann-Pick Disease, Type A

Brittle Bone Disorder

Osteogenesis Imperfecta	Brittle Bone Disease
Fragilitas Ossium	Osteopsathyrosis
Lobstein Disease	Oi
Vrolik Disease	Lobstein'S Disease
Lobstein'S Syndrome	Vrolik'S Disease
Porak And Durante Disease	Glass Bone Disease
Osteogenesis Imperfecta, Dominant Perinatal Lethal	Osteogenesis Imperfecta, Recessive Perinatal Lethal
Brittle Bone Syndrome	Oi - [Osteogenesis Imperfecta]
Ossium Fragility	Osteitis Fragilitans
Bony Fragility	Blue Sclera With Fragility Of Bone And Deafness
White Blue Sclera - Fragility Of Bone - Deafness

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-RS13449	SMPD3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	SMPD3	VGNC	VGNC:35031
Canis familiaris	SMPD3	VGNC	VGNC:46571
Macaca mulatta	SMPD3	VGNC	VGNC:77701
Rattus norvegicus	SMPD3	RGD	RGD:619754
Mus musculus	SMPD3	MGD	MGI:1927578
Felis catus	SMPD3	VGNC	VGNC:65503

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