SMPD4 (sphingomyelin phosphodiesterase 4)

2008-09-01  

Identity

HGNC
LOCATION
2q21.1
LOCUSID
ALIAS
NEDMABA,NEDMEBA,NET13,NSMASE-3,NSMASE3,SKNY
FUSION GENES

Other Information

Locus ID:

NCBI: 55627
MIM: 610457
HGNC: 32949
Ensembl: ENSG00000136699

Variants:

dbSNP: 55627
ClinVar: 55627
TCGA: ENSG00000136699
COSMIC: SMPD4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000136699ENST00000351288Q9NXE4
ENSG00000136699ENST00000409031Q9NXE4
ENSG00000136699ENST00000412570F2Z2W5
ENSG00000136699ENST00000430682H7C2J2
ENSG00000136699ENST00000431183Q9NXE4
ENSG00000136699ENST00000433118F2Z2I0
ENSG00000136699ENST00000435455F8WEQ5
ENSG00000136699ENST00000439029F2Z2I0
ENSG00000136699ENST00000439886H7C1Q6
ENSG00000136699ENST00000441135C9J647
ENSG00000136699ENST00000449159H7C235
ENSG00000136699ENST00000451542H7C2E2
ENSG00000136699ENST00000454468F8WF03
ENSG00000136699ENST00000457039H7C0W5

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Pathways

PathwaySourceExternal ID
Sphingolipid metabolismKEGGko00600
Sphingolipid metabolismKEGGhsa00600
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Sphingolipid metabolismREACTOMER-HSA-428157
Glycosphingolipid metabolismREACTOMER-HSA-1660662

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
185059242008Neutral sphingomyelinase-3 is a DNA damage and nongenotoxic stress-regulated gene that is deregulated in human malignancies.22
196988062009Transcriptional regulation of neutral sphingomyelinase 2 gene expression of a human breast cancer cell line, MCF-7, induced by the anti-cancer drug, daunorubicin.17
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
314954892019Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.1

Citation

Dessen P

SMPD4 (sphingomyelin phosphodiesterase 4)

Atlas Genet Cytogenet Oncol Haematol. 2008-09-01

Online version: http://atlasgeneticsoncology.org/gene/50381/smpd4