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SMPD2 - sphingomyelin phosphodiesterase 2 Gene

Also Known as ISC1; NSMASE; NSMASE1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6610

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	References	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	References	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

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	References
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

SMPD2 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P811320	N-SMase Antibody	WB, IHC-P	Human, Mouse, Rat
HY-P89697	N-SMase Antibody (YA9041)	WB, ICC/IF, IF-Tissue, IHC-P, IP, ELISA	human

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

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-134505	Avicin G	Inhibitor	/	Unkown
HY-RS13448	SMPD2 Human Pre-designed siRNA Set A	Pre-designed Set	/	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