SMPD4 (sphingomyelin phosphodiesterase 4)

2008-09-01 Affiliation

Identity

HGNC

SMPD4

LOCATION

2q21.1

LOCUSID

55627

ALIAS

NEDMABA,NEDMEBA,NET13,NSMASE-3,NSMASE3,SKNY

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: 55627
MIM: 610457
HGNC: 32949
Ensembl: ENSG00000136699

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000136699	ENST00000351288	Q9NXE4
ENSG00000136699	ENST00000409031	Q9NXE4
ENSG00000136699	ENST00000412570	F2Z2W5
ENSG00000136699	ENST00000430682	H7C2J2
ENSG00000136699	ENST00000431183	Q9NXE4
ENSG00000136699	ENST00000433118	F2Z2I0
ENSG00000136699	ENST00000435455	F8WEQ5
ENSG00000136699	ENST00000439029	F2Z2I0
ENSG00000136699	ENST00000439886	H7C1Q6
ENSG00000136699	ENST00000441135	C9J647
ENSG00000136699	ENST00000449159	H7C235
ENSG00000136699	ENST00000451542	H7C2E2
ENSG00000136699	ENST00000454468	F8WF03
ENSG00000136699	ENST00000457039	H7C0W5

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
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

Protein levels (Protein atlas)

Not detected

Low

Medium

High

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/favicon/favicon/favicon-32x32.png