2. Gene
  3. SMPD2 - sphingomyelin phosphodiesterase 2 Gene

SMPD2 - sphingomyelin phosphodiesterase 2 Gene

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

Also known as ISC1; NSMASE; NSMASE1

Gene ID: 6610 | Gene type: protein coding

About SMPD2

Cytogenetic location: 6q21 Genomic coordinates (GRCh38): 6:109,440,724-109,443,919 (from NCBI)

This gene has 3 transcripts (splice variants) and 203 orthologues. Broad expression in testis (RPKM 17.9), skin (RPKM 6.8) and 24 other tissues.

Summary

This gene encodes a protein which was initially identified as a sphingomyelinase based on sequence similarity between Bacterial sphingomyelinases and a yeast protein. Subsequent studies showed that its biological function is less likely to be as a sphingomyelinase and instead as a lysophospholipase. [provided by RefSeq, Oct 2009]

SMPD2 Products(1)

mRNA Protein Name
NM_003080.3 NP_003071.2 sphingomyelin phosphodiesterase 2
Gene Ontology
  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Reference Source
enables phosphoric diester hydrolase activity IDA
IDA: Inferred from direct assay
10608884 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
28514442 GOA
enables sphingomyelin phosphodiesterase activity IDA
IDA: Inferred from direct assay
10608884 GOA
Biological Process GO Annotation Evidence Reference Source
involved in sphingomyelin catabolic process IDA
IDA: Inferred from direct assay
10608884 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

SMPD2 Protein Structure

Exo_endo_phos

Exo_endo_phos: Endonuclease/Exonuclease/phosphatase family (14 - 272)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 423 a.a.
Protein Preferred Names Protein Names

sphingomyelin phosphodiesterase 2

N-SMase

SMPD2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra SMPD2 O60906 PGRMC2 Homo sapiens O15173
Y2H Prey Pooling
32296183
Intra SMPD2 O60906 PGRMC2 Homo sapiens O15173
Y2H Array
32296183
Intra SMPD2 O60906 NDRG4 Homo sapiens Q9ULP0-2
Validated Y2H
32296183
Intra SMPD2 O60906 SLC7A8 Homo sapiens Q9UHI5
Y2H Prey Pooling
32296183
Intra SMPD2 O60906 SLC7A8 Homo sapiens Q9UHI5
Validated Y2H
32296183
Intra SMPD2 O60906 SLC7A8 Homo sapiens Q9UHI5
Y2H Array
32296183
Intra SMPD2 O60906 PITPNC1 Homo sapiens Q9UKF7-2
Validated Y2H
32296183
Intra SMPD2 O60906 TMEM167B Homo sapiens Q9NRX6
Y2H Array
32296183
Intra SMPD2 O60906 TMEM167B Homo sapiens Q9NRX6
Y2H Prey Pooling
32296183
Intra SMPD2 O60906 TMEM167B Homo sapiens Q9NRX6
Validated Y2H
32296183
Intra SMPD2 O60906 SH3GLB1 Homo sapiens Q9Y371
Y2H Pooling
32814053
Intra SMPD2 O60906 SH3GLB1 Homo sapiens Q9Y371
Validated Y2H
32814053
Intra SMPD2 O60906 SH3GLB1 Homo sapiens Q9Y371
Y2H Array
32814053
Intra SMPD2 O60906 ARFIP1 Homo sapiens P53367
Validated Y2H
32296183
Intra SMPD2 O60906 MTHFR Homo sapiens P42898
Anti Tag CoIP
33961781
Intra SMPD2 O60906 MTHFR Homo sapiens P42898
Anti Tag CoIP
28514442
Intra SMPD2 O60906 SLC10A1 Homo sapiens Q14973
Y2H Array
32296183
Intra SMPD2 O60906 SLC10A1 Homo sapiens Q14973
Y2H Prey Pooling
32296183
Intra SMPD2 O60906 SLC10A1 Homo sapiens Q14973
Validated Y2H
32296183
Intra SMPD2 O60906 STAR Homo sapiens P49675
Validated Y2H
32296183
Intra SMPD2 O60906 PBX3 Homo sapiens Q96AL5
Validated Y2H
32296183
Intra SMPD2 O60906 COQ8A Homo sapiens Q8NI60
Validated Y2H
32296183
Intra SMPD2 O60906 TMEM14B Homo sapiens Q9NUH8
Y2H Prey Pooling
32296183
Intra SMPD2 O60906 TMEM14B Homo sapiens Q9NUH8
Validated Y2H
32296183
Intra SMPD2 O60906 TMEM14B Homo sapiens Q9NUH8
Y2H Array
32296183
Intra SMPD2 O60906 GAD2 Homo sapiens Q05329
Validated Y2H
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Niemann-Pick Disease, Type A

Niemann-Pick Disease Type A

Sphingomyelin Lipidosis

Sphingomyelinase Deficiency

Niemann-Pick Disease, Intermediate, Protracted Neurovisceral

Acid Sphingomyelinase Deficiency, Neurovisceral Type

Asmd, Neurovisceral Type

Infantile Neurovisceral Acid Sphingomyelinase Deficiency

Infantile Neurovisceral Asmd

Npd-A

Niemann-Pick Disease A

NPDA

Classical Niemann-Pick Disease

Niemann-Pick Disease Acute Neuronopathic Form

Niemann-Pick Disease Acute Neurovisceral Form

Niemann-Pick Disease Classical Infantile Form

Niemann-Pick Disease Intermediate Protracted Neurovisceral

Niemann-Pick Disease Neuronopathic Type

Niemann-Pick Disease Type I

Npa

Niemann-Pick Diseases
Farber Lipogranulomatosis

Farber Disease

Acid Ceramidase Deficiency

Ceramidase Deficiency

Ac Deficiency

N-Laurylsphingosine Deacylase Deficiency

Farber'S Disease

FRBRL

Farber'S Lipogranulomatosis

Acylsphingosine Deacylase Deficiency

Farber-Uzman Syndrome

Acy
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
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-RS13448 SMPD2 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus SMPD2 VGNC VGNC:65502
Mus musculus SMPD2 MGD MGI:1278330
Bos taurus SMPD2 VGNC VGNC:35030
Rattus norvegicus SMPD2 RGD RGD:619753
Macaca mulatta SMPD2 VGNC VGNC:104429
Canis familiaris SMPD2 VGNC VGNC:46570
Others SMPD2 NCBI