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SMPD4 - sphingomyelin phosphodiesterase 4 Gene

Also Known as SKNY; NET13; NEDMABA; NEDMEBA; NSMASE3; NSMASE-3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55627

About SMPD4

Cytogenetic location: 2q21.1 Genomic coordinates (GRCh38): 2:130,151,392-130,181,757 (from NCBI)

This gene has 27 transcripts (splice variants), 206 orthologues and is associated with 2 phenotypes. Ubiquitous expression in bone marrow (RPKM 16.4), testis (RPKM 14.6) and 25 other tissues.

Summary

The protein encoded by this gene is a sphingomyelinase that catalyzes the hydrolysis of membrane sphingomyelin to form phosphorylcholine and ceramide. This gene is activated by DNA damage, cellular stress, and tumor necrosis factor, but it is downregulated by wild-type p53. The encoded protein localizes to the endoplasmic reticulum and Golgi network. [provided by RefSeq, Mar 2017]

SMPD4 Products (3)

mRNA	Protein	Name
NM_001171083.2	NP_001164554.1	sphingomyelin phosphodiesterase 4 isoform 3
NM_017751.4	NP_060221.2	sphingomyelin phosphodiesterase 4 isoform 1
NM_017951.5	NP_060421.3	sphingomyelin phosphodiesterase 4 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables sphingomyelin phosphodiesterase D activity	IDA IDA: Inferred from direct assay	16517606	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cellular response to tumor necrosis factor	IDA IDA: Inferred from direct assay	16517606	GOA
involved in ceramide biosynthetic process	IDA IDA: Inferred from direct assay	16517606	GOA
involved in endoplasmic reticulum organization	IMP IMP: Inferred from mutant phenotype	31495489	GOA
involved in glycerophospholipid catabolic process	IDA IDA: Inferred from direct assay	16517606	GOA
involved in sphingomyelin catabolic process	IDA IDA: Inferred from direct assay	16517606	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	16517606	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	16517606	GOA
located in nuclear outer membrane	IDA IDA: Inferred from direct assay	31495489	GOA
located in trans-Golgi network	IDA IDA: Inferred from direct assay	16517606	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

SMPD4 Protein Structure

mit_SMPDase

0
200
400
600
800
866 a.a.

Protein Preferred Names	Protein Names
sphingomyelin phosphodiesterase 4	neutral sphingomyelinase 3

Related Diseases

Diseases	Alias
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	NEDMABA
Microcephaly With Simplified Gyral Pattern
Cerebellar Hypoplasia
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Multiple Pterygium Syndrome, Escobar Variant	Multiple Pterygium Syndrome Pterygium Escobar Syndrome EVMPS Pterygium Syndrome Autosomal Recessive Multiple Pterygium Syndrome Pterygium Colli Syndrome Pterygium Universale Autosomal Recessive Non-Lethal Multiple Pterygium Syndrome Escobar Variant Multiple Pterygium Syndrome Multiple Pterygium Syndrome, Nonlethal Type Surfer'S Eye Multiple Pterygium Syndrome Escobar Type Multiple Pterygium Syndrome Nonlethal Type Familial Pterygium Syndrome Pterygium Colli Multiple Pterygium Syndrome, Non-Lethal Type Nonlethal Type Multiple Pterygium Syndrome Pterygium Syndrome, Multiple, Escobar Type Pterygium Of Eye Web Eye
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
Distal Arthrogryposis	Arthrogryposis Multiplex Congenita Arthrogryposis Congenital Multiple Arthrogryposis Congenital Arthromyodysplasia Fibrous Ankylosis Of Multiple Joints Guerin-Stern Syndrome Guérin-Stern Syndrome Myodystrophia Fetalis Deformans Otto Syndrome Rocher-Sheldon Syndrome Rossi Syndrome Amc Multiple Congenital Arthrogryposis Arthrogryposis Syndrome Arthrogryposis, Distal Distal Arthrogryposis Syndrome Freeman-Sheldon Syndrome Arthrogryposis, Distal, Type 2b Congenital Multiplex Arthrogryposis Amyoplasia Congenita Congenital Amyoplasia Amc - [Arthrogryposis Multiplex Congenita]
Nanophthalmos	Nanophthalmia
Galloway-Mowat Syndrome	Galloway Mowat Syndrome Galloway Syndrome Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type Microcephaly Nephrosis Syndrome Microcephaly, Hiatal Hernia, And Nephrotic Syndrome Nephrosis Neuronal Dysmigration Syndrome Microcephaly-Hiatus Hernia-Nephrotic Syndrome Nephrosis-Neuronal Dysmigration Syndrome

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13450	SMPD4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	SMPD4	RGD	RGD:1310674
Bos taurus	SMPD4	VGNC	VGNC:35032
Macaca mulatta	SMPD4	VGNC	VGNC:97831
Mus musculus	SMPD4	MGD	MGI:1924876
Canis familiaris	SMPD4	VGNC	VGNC:46572
Felis catus	SMPD4	VGNC	VGNC:80489
Others	SMPD4	NCBI