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SGMS2 (sphingomyelin synthase 2)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
166929
Gene nameGene Name - the full gene name approved by the HGNC.
Sphingomyelin synthase 2
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
SGMS2
SynonymsGene synonyms aliases
CDL, SMS2
ChromosomeChromosome number
4
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q25
SummarySummary of gene provided in NCBI Entrez Gene.
Sphingomyelin, a major component of cell and Golgi membranes, is made by the transfer of phosphocholine from phosphatidylcholine onto ceramide, with diacylglycerol as a side product. The protein encoded by this gene is an enzyme that catalyzes this reacti
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT019865 hsa-miR-375 Microarray 20215506
MIRT026582 hsa-miR-192-5p Microarray 19074876
MIRT040261 hsa-miR-615-3p CLASH 23622248
MIRT437955 hsa-miR-133a-3p In situ hybridization, Microarray, qRT-PCR, Luciferase reporter assay, Western blot 24715690
MIRT437955 hsa-miR-133a-3p In situ hybridization, Microarray, qRT-PCR, Luciferase reporter assay, Western blot 24715690
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0002950 Function Ceramide phosphoethanolamine synthase activity IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005794 Component Golgi apparatus IDA 14685263
GO:0005886 Component Plasma membrane IDA 30779713
GO:0005886 Component Plasma membrane TAS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q8NHU3
Protein name Phosphatidylcholine:ceramide cholinephosphotransferase 2 (EC 2.7.8.27) (Sphingomyelin synthase 2) (SMS2)
Protein function Sphingomyelin synthase that primarily contributes to sphingomyelin synthesis and homeostasis at the plasma membrane. Catalyzes the reversible transfer of phosphocholine moiety in sphingomyelin biosynthesis: in the forward reaction transfers phos
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14360 PAP2_C
220 293
PAP2 superfamily C-terminal
Domain
Sequence
MDIIETAKLEEHLENQPSDPTNTYARPAEPVEEENKNGNGKPKSLSSGLRKGTKKYPDYI
QIAMPTESRNKFPLEWWKTGIAFIYAVFNLVLTTVMITVVHERVPPKELSPPLPDKFFDY
IDRVKWAFSVSEINGIILVGLWITQWLFLRYKSIVGRRFCFIIGTLYLYRCITMYVTTLP
VPGMHFQCAPKLNGDSQAKVQRILRLISGGGLSITGSHILCGDFLFSGHTVTLTLTYLFI
KEYSPRHFWWYHLICWLLSAAGIICILVAHEHYTIDVIIAYYITTRLFWWYHS
MANEKNL
KVSSQTNFLSRAWWFPIFYFFEKNVQGSIPCCFSWPLSWPPGCFKSSCKKYSRVQKIGED
NEKST
Sequence length 365
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
  Glycerophospholipid metabolism
Sphingolipid metabolism
Metabolic pathways
Sphingolipid signaling pathway
  Sphingolipid de novo biosynthesis
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Osteoporosis Osteoporosis rs72658152, rs72667023, rs587776916, rs72656370, rs768615287
Scoliosis Scoliosis, unspecified rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Unknown
Disease name Disease term dbSNP ID References
Doughnut lesions of skull Doughnut Lesions of Skull, Familial 30779713
Osteopenia Osteopenia

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