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SMPD3 (sphingomyelin phosphodiesterase 3)

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.
miRTarBase ID miRNA Experiments Reference
MIRT028920 hsa-miR-26b-5p Microarray 19088304
MIRT1373834 hsa-miR-1245b-5p CLIP-seq
MIRT1373835 hsa-miR-1283 CLIP-seq
MIRT1373836 hsa-miR-1299 CLIP-seq
MIRT1373837 hsa-miR-1911 CLIP-seq
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
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
MVLYTTPFPNSCLSALHCVSWALIFPCYWLVDRLAASFIPTTYEKRQRADDPCCLQLLCT
ALFTPIYLALLVASLPFAFLGFLFWSPLQSARRPYIYSRLEDKGLAGGAALLSEWKGTGP
GKSFCFATANVCLLPDSLARVNNLFNTQARAKEIGQRIRNGAARPQIKIYIDSPTNTSIS
AASFSSLVSPQGGDGVARAVPGSIKRTASVEYKGDGGRHPGDEAANGPASGDPVDSSSPE
DACIVRIGGEEGGRPPEADDPVPGGQARNGAGGGPRGQTPNHNQQDGDSGSLGSPSASRE
SLVKGRAGPDTSASGEPGANSKLLYKASVVKKAAARRRRHPDEAFDHEVSAFFPANLDFL
CLQEVFDKRAATKLKEQLHGYFEYILYDVGVYGCQGCCSFKCLNSGLLFASRYPIMDVAY
HCYPNKCNDDALASKGALFLKVQVGSTPQDQRIVGYIACTHLHAPQEDSAIRCGQLDLLQ
DWLADFRKSTSSSSAANPEELVAFDVVCGDFNFDNCSSDDKLEQQHSLFTHYRDPCRLGP
GEEKPWAIGTLLDTNGLYDEDVCTPDNLQKVLESEEGRREYLAFPTSKSSGQKGRKELLK
GNGRRIDYMLHAEEGLCPDWKAEVEEF
SFITQLSGLTDHLPVAMRLMVSSGEEEA
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.
 
KEGG
 
Reactome
  Sphingolipid metabolism
Metabolic pathways
  Glycosphingolipid metabolism
TNFR1-mediated ceramide production
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

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