SMPD2 (sphingomyelin phosphodiesterase 2)

2011-02-01 Affiliation

Identity

HGNC

SMPD2

LOCATION

6q21

LOCUSID

6610

ALIAS

ISC1,NSMASE,NSMASE1

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: 6610
MIM: 603498
HGNC: 11121
Ensembl: ENSG00000135587

Variants:

dbSNP: 6610
ClinVar: 6610
TCGA: ENSG00000135587
COSMIC: SMPD2

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000135587	ENST00000258052	O60906
ENSG00000135587	ENST00000458487	H0Y5N2

Expression (GTEx)

100

150

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
Sphingolipid signaling pathway	KEGG	hsa04071
Sphingolipid signaling pathway	KEGG	ko04071
Signal Transduction	REACTOME	R-HSA-162582
Signalling by NGF	REACTOME	R-HSA-166520
p75 NTR receptor-mediated signalling	REACTOME	R-HSA-193704
Ceramide signalling	REACTOME	R-HSA-193681
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
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
15051724	2004	Role for mammalian neutral sphingomyelinase 2 in confluence-induced growth arrest of MCF7 cells.	60
15175033	2004	Impaired sphingomyelinase activity and epidermal differentiation in atopic dermatitis.	45
18040843	2007	Oxidative stress kills human primary oligodendrocytes via neutral sphingomyelinase: implications for multiple sclerosis.	44
20448054	2011	Neutral sphingomyelinase 2: a novel target in cigarette smoke-induced apoptosis and lung injury.	38
17272284	2007	Neutral sphingomyelinase 2 is palmitoylated on multiple cysteine residues. Role of palmitoylation in subcellular localization.	34
20836852	2010	Withanolide D induces apoptosis in leukemia by targeting the activation of neutral sphingomyelinase-ceramide cascade mediated by synergistic activation of c-Jun N-terminal kinase and p38 mitogen-activated protein kinase.	32
19834535	2009	Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging.	27
25168245	2015	Stress-induced ceramide generation and apoptosis via the phosphorylation and activation of nSMase1 by JNK signaling.	27
19698806	2009	Transcriptional regulation of neutral sphingomyelinase 2 gene expression of a human breast cancer cell line, MCF-7, induced by the anti-cancer drug, daunorubicin.	17

Citation

Dessen P

SMPD2 (sphingomyelin phosphodiesterase 2)

Atlas Genet Cytogenet Oncol Haematol. 2011-02-01

Online version: http://atlasgeneticsoncology.org/gene/52064/smpd2