SMPD3 (sphingomyelin phosphodiesterase 3)

2008-08-01 Affiliation

Identity

HGNC

SMPD3

LOCATION

16q22.1

LOCUSID

55512

ALIAS

NSMASE2

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 55512
MIM: 605777
HGNC: 14240
Ensembl: ENSG00000103056

Variants:

dbSNP: 55512
ClinVar: 55512
TCGA: ENSG00000103056
COSMIC: SMPD3

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000103056	ENST00000219334	Q9NY59
ENSG00000103056	ENST00000561749	H3BTM0
ENSG00000103056	ENST00000563226	Q9NY59
ENSG00000103056	ENST00000568373	H3BS51
ENSG00000103056	ENST00000574662	I3L228

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Sphingolipid metabolism	KEGG	ko00600
Sphingolipid metabolism	KEGG	hsa00600
Metabolic pathways	KEGG	hsa01100
Signal Transduction	REACTOME	R-HSA-162582
Death Receptor Signalling	REACTOME	R-HSA-73887
TNF signaling	REACTOME	R-HSA-75893
Metabolism	REACTOME	R-HSA-1430728
Metabolism of lipids and lipoproteins	REACTOME	R-HSA-556833
Sphingolipid metabolism	REACTOME	R-HSA-428157
Glycosphingolipid metabolism	REACTOME	R-HSA-1660662
TNFR1-mediated ceramide production	REACTOME	R-HSA-5626978

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
23439645	2013	Neutral sphingomyelinase 2 (nSMase2)-dependent exosomal transfer of angiogenic microRNAs regulate cancer cell metastasis.	203
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
12566438	2003	Biochemical properties of mammalian neutral sphingomyelinase 2 and its role in sphingolipid metabolism.	73
16631623	2006	nSMase2 activation and trafficking are modulated by oxidative stress to induce apoptosis.	61
16517606	2006	Novel tumor necrosis factor-responsive mammalian neutral sphingomyelinase-3 is a C-tail-anchored protein.	47
17085432	2007	Role for neutral sphingomyelinase-2 in tumor necrosis factor alpha-stimulated expression of vascular cell adhesion molecule-1 (VCAM) and intercellular adhesion molecule-1 (ICAM) in lung epithelial cells: p38 MAPK is an upstream regulator of nSMase2.	47
18299447	2008	Mutations in the neutral sphingomyelinase gene SMPD3 implicate the ceramide pathway in human leukemias.	42
25465297	2015	Roles and regulation of neutral sphingomyelinase-2 in cellular and pathological processes.	40
20106976	2010	Neutral sphingomyelinase 2 (nSMase2) is a phosphoprotein regulated by calcineurin (PP2B).	32
21303347	2011	Neutral sphingomyelinase 2 (nSMase2) is the primary neutral sphingomyelinase isoform activated by tumour necrosis factor-α in MCF-7 cells.	26

Citation

Dessen P

SMPD3 (sphingomyelin phosphodiesterase 3)

Atlas Genet Cytogenet Oncol Haematol. 2008-08-01

Online version: http://atlasgeneticsoncology.org/gene/50291/smpd3