Identity
HGNC
LOCATION
2q21.1
LOCUSID
ALIAS
NEDMABA,NEDMEBA,NET13,NSMASE-3,NSMASE3,SKNY
FUSION GENES
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: 55627
MIM: 610457
HGNC: 32949
Ensembl: ENSG00000136699
Variants:
dbSNP: 55627
ClinVar: 55627
TCGA: ENSG00000136699
COSMIC: SMPD4
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37882972 | 2024 | Two novel cases of biallelic SMPD4 variants with brain structural abnormalities. | 0 |
| 37882972 | 2024 | Two novel cases of biallelic SMPD4 variants with brain structural abnormalities. | 0 |
| 35203325 | 2022 | Proximity Ligation Mapping of Microcephaly Associated SMPD4 Shows Association with Components of the Nuclear Pore Membrane. | 3 |
| 35203325 | 2022 | Proximity Ligation Mapping of Microcephaly Associated SMPD4 Shows Association with Components of the Nuclear Pore Membrane. | 3 |
| 31495489 | 2019 | Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis. | 28 |
| 31495489 | 2019 | Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis. | 28 |
| 20628086 | 2010 | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. | 15 |
| 20628086 | 2010 | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. | 15 |
| 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. | 23 |
| 19913121 | 2009 | Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. | 105 |
| 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. | 23 |
| 19913121 | 2009 | Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. | 105 |
| 18505924 | 2008 | Neutral sphingomyelinase-3 is a DNA damage and nongenotoxic stress-regulated gene that is deregulated in human malignancies. | 28 |
| 18505924 | 2008 | Neutral sphingomyelinase-3 is a DNA damage and nongenotoxic stress-regulated gene that is deregulated in human malignancies. | 28 |
Citation
Dessen P
SMPD4 (sphingomyelin phosphodiesterase 4)
Atlas Genet Cytogenet Oncol Haematol. 2008-09-01
Online version: http://atlasgeneticsoncology.org/gene/50381/smpd4
