SMPD3 - sphingomyelin phosphodiesterase 3 Gene

Also Known as NSMASE2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55512

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 References 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 References 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

Exo_endo_phos: Endonuclease/Exonuclease/phosphatase family (355 - 639)

  • 0
  • 200
  • 400
  • 600
  • 655 a.a.
Protein Preferred Names Protein Names

sphingomyelin phosphodiesterase 3

  • nSMase-2

SMPD3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
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

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS13449 SMPD3 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS21047 Smpd3 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS27565 Smpd3 Rat Pre-designed siRNA Set A Pre-designed Set / 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
Others SMPD3 NCBI