SMPD4 - sphingomyelin phosphodiesterase 4 Gene

Homo sapiens

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

Gene ID: 55627 | Gene type: protein coding

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	Reference	Source
enables sphingomyelin phosphodiesterase D activity	IDA IDA: Inferred from direct assay	16517606	GOA

Biological Process GO Annotation	Evidence	Reference	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	Reference	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

Bioactive Molecules (1)

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

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