Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
55512 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Sphingomyelin phosphodiesterase 3 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
SMPD3 |
SynonymsGene synonyms aliases
|
NSMASE2 |
ChromosomeChromosome number
|
16 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
16q22.1 |
miRNAmiRNA information provided by mirtarbase database.
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0000137 |
Component |
Golgi cis cisterna |
IEA |
|
GO:0000139 |
Component |
Golgi membrane |
IEA |
|
GO:0001786 |
Function |
Phosphatidylserine binding |
ISS |
|
GO:0001932 |
Process |
Regulation of protein phosphorylation |
IEA |
|
GO:0001958 |
Process |
Endochondral ossification |
IEA |
|
GO:0002244 |
Process |
Hematopoietic progenitor cell differentiation |
IEA |
|
GO:0002685 |
Process |
Regulation of leukocyte migration |
IEA |
|
GO:0003433 |
Process |
Chondrocyte development involved in endochondral bone morphogenesis |
IEA |
|
GO:0004620 |
Function |
Phospholipase activity |
IBA |
21873635 |
GO:0004767 |
Function |
Sphingomyelin phosphodiesterase activity |
IBA |
21873635 |
GO:0004767 |
Function |
Sphingomyelin phosphodiesterase activity |
ISS |
|
GO:0005515 |
Function |
Protein binding |
IPI |
20080539 |
GO:0005576 |
Component |
Extracellular region |
IEA |
|
GO:0005737 |
Component |
Cytoplasm |
IBA |
21873635 |
GO:0005886 |
Component |
Plasma membrane |
ISS |
|
GO:0005886 |
Component |
Plasma membrane |
TAS |
|
GO:0006672 |
Process |
Ceramide metabolic process |
IEA |
|
GO:0006684 |
Process |
Sphingomyelin metabolic process |
IBA |
21873635 |
GO:0006684 |
Process |
Sphingomyelin metabolic process |
ISS |
|
GO:0006685 |
Process |
Sphingomyelin catabolic process |
IEA |
|
GO:0006687 |
Process |
Glycosphingolipid metabolic process |
TAS |
|
GO:0015774 |
Process |
Polysaccharide transport |
IEA |
|
GO:0030072 |
Process |
Peptide hormone secretion |
IEA |
|
GO:0030282 |
Process |
Bone mineralization |
IEA |
|
GO:0030509 |
Process |
BMP signaling pathway |
IEA |
|
GO:0032963 |
Process |
Collagen metabolic process |
IEA |
|
GO:0035264 |
Process |
Multicellular organism growth |
IEA |
|
GO:0042802 |
Function |
Identical protein binding |
IEA |
|
GO:0043491 |
Process |
Protein kinase B signaling |
IEA |
|
GO:0045840 |
Process |
Positive regulation of mitotic nuclear division |
IEA |
|
GO:0046872 |
Function |
Metal ion binding |
IEA |
|
GO:0048008 |
Process |
Platelet-derived growth factor receptor signaling pathway |
IEA |
|
GO:0048286 |
Process |
Lung alveolus development |
IEA |
|
GO:0048661 |
Process |
Positive regulation of smooth muscle cell proliferation |
IEA |
|
GO:0061035 |
Process |
Regulation of cartilage development |
IEA |
|
GO:0061751 |
Function |
Neutral sphingomyelin phosphodiesterase activity |
IEA |
|
GO:0070300 |
Function |
Phosphatidic acid binding |
ISS |
|
GO:0070301 |
Process |
Cellular response to hydrogen peroxide |
IEA |
|
GO:0070314 |
Process |
G1 to G0 transition |
IEA |
|
GO:0071286 |
Process |
Cellular response to magnesium ion |
IEA |
|
GO:0071356 |
Process |
Cellular response to tumor necrosis factor |
IEA |
|
GO:0071461 |
Process |
Cellular response to redox state |
IEA |
|
GO:0071897 |
Process |
DNA biosynthetic process |
IEA |
|
GO:0085029 |
Process |
Extracellular matrix assembly |
IEA |
|
GO:0090520 |
Process |
Sphingolipid mediated signaling pathway |
IEA |
|
GO:0097187 |
Process |
Dentinogenesis |
IEA |
|
GO:0098868 |
Process |
Bone growth |
IEA |
|
GO:0140014 |
Process |
Mitotic nuclear division |
IEA |
|
GO:0140052 |
Process |
Cellular response to oxidised low-density lipoprotein particle stimulus |
IEA |
|
GO:1900126 |
Process |
Negative regulation of hyaluronan biosynthetic process |
IEA |
|
GO:1901653 |
Process |
Cellular response to peptide |
IEA |
|
GO:1903543 |
Process |
Positive regulation of exosomal secretion |
ISS |
|
GO:2000304 |
Process |
Positive regulation of ceramide biosynthetic process |
TAS |
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
Protein
|
UniProt ID |
Q9NY59 |
Protein name |
Sphingomyelin phosphodiesterase 3 (EC 3.1.4.12) (Neutral sphingomyelinase 2) (nSMase-2) (nSMase2) (Neutral sphingomyelinase II) |
Protein function |
Catalyzes the hydrolysis of sphingomyelin to form ceramide and phosphocholine. Ceramide mediates numerous cellular functions, such as apoptosis and growth arrest, and is capable of regulating these 2 cellular events independently. Also hydrolyze |
PDB |
5UVG
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF03372 |
Exo_endo_phos |
319 → 627 |
Endonuclease/Exonuclease/phosphatase family |
Domain |
|
Sequence |
|
Sequence length |
655 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
|
|
Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Leukemia |
leukemia |
rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601 |
18283525 |
Myelodysplastic syndrome |
MYELODYSPLASTIC SYNDROME |
rs193303018, rs387906631, rs1576745225, rs373145711, rs752746786, rs377023736, rs373221034, rs1576749014, rs1600586587 |
18283525 |
Schizophrenia |
Schizophrenia |
rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 |
31374203 |
|