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FLASH GENE

Symbol

SMPD4

contributors: mct - updated : 25-10-2019

HGNC name	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)
HGNC id	32949

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	NEDMABA neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
Location	2q21.1      Physical location : 130.908.964 - 130.940.323
Synonym name	neutral sphingomyelinase 3
	SKNY protein
	nuclear envelope transmembrane protein-13
Synonym symbol(s)	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13, NEDMABA, NEDMEBA, NET13,
EC.number	3.1.4.12

DNA

TYPE	functioning gene
STRUCTURE	30.72 kb     20 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001171083 17 - 3614 NP_001164554 - 764 - 2008 18505924 NM_017951 20 - 3920 NP_060421 - 866 - 2008 18505924 NM_017751 19 - 3833 NP_060221 - 837 - 2008 18505924

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain       highly Homo sapiens Fetal

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum cardiac

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	lacks an N-terminal signal peptide
	a protein-protein interaction domain
	a C-terminal transmembrane domain close to the putative enzyme active site, which includes a potential N-glycosylation site

HOMOLOGY

Homologene

FAMILY

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
	intracellular,nuclear envelope,pore
text	presence of SMPD4 at the endoplasmic reticulum (ER) and the Golgi apparatus, and and to the nuclear envelope
	SMPD4 is enriched at the nuclear pore complexes (NPCs)

basic FUNCTION	play a role in sphingolipid homeostasis and membrane structure
	an important molecule that is linked to tumorigenesis and cellular stress response
	is a signaling neutral sphingomyelinase (nSMase) in skeletal muscle that is essential for TNF-stimulated oxidant activity
	SMPD4 links homeostasis of membrane sphingolipids to cell fate by regulating the cross-talk between the ER and the outer nuclear envelope
	role of SMPD4 in cell fate and mitosis , and primary function of SMPD4 in brain development and in postnatal brain function

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

NEDMABA

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --other   deregulated in several types of primary tumors when compared with their matching normal tissues tumoral     --over   in late stage of clear cell renal cell carcinoma (ccRCC)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS