Gene Gene information from NCBI Gene database.
Entrez ID 166929
Gene name Sphingomyelin synthase 2
Gene symbol SGMS2
Synonyms (NCBI Gene)
CDLSMS2
Chromosome 4
Chromosome location 4q25
Summary 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
miRNA miRNA information provided by mirtarbase database.
355
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 hybridizationMicroarrayqRT-PCRLuciferase reporter assayWestern blot 24715690
MIRT437955 hsa-miR-133a-3p In situ hybridizationMicroarrayqRT-PCRLuciferase reporter assayWestern blot 24715690
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
33
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IBA
GO:0000139 Component Golgi membrane IDA 14685263
GO:0000139 Component Golgi membrane IEA
GO:0002950 Function Ceramide phosphoethanolamine synthase activity IEA
GO:0005515 Function Protein binding IPI 32296183
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611574 28395 ENSG00000164023
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Tissue specificity TISSUE SPECIFICITY: Brain, heart, kidney, liver, muscle and stomach. Also expressed in a number of cell lines such as carcinoma HeLa cells, hepatoma Hep-G2 cells, and colon carcinoma Caco-2 cells. {ECO:0000269|PubMed:14685263}.
Sequence
MDIIETAKLEEHLENQPSDPTNTYARPAEPVEEENKNGNGKPKSLSSGLRKGTKKYPDYI
QIAMPTESRNKFPLEWWKTGIAFIYAVFNLVLTTVMITVVHERVPPKELSPPLPDKFFDY
IDRVKWAFSVSEINGIILVGLWITQWLFLRYKSIVGRRFCFIIGTLYLYRCITMYVTTLP
VPGMHFQCAPKLNGDSQAKVQRILRLISGGGLSITGSHILCGDFLFSGHTVTLTLTYLFI
KEYSPRHFWWYHLICWLLSAAGIICILVAHEHYTIDVIIAYYITTRLFWWYHS
MANEKNL
KVSSQTNFLSRAWWFPIFYFFEKNVQGSIPCCFSWPLSWPPGCFKSSCKKYSRVQKIGED
NEKST
Sequence length 365
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Glycerophospholipid metabolism
Sphingolipid metabolism
Metabolic pathways
Sphingolipid signaling pathway
  Sphingolipid de novo biosynthesis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
18
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia Pathogenic rs1560667512, rs1560667521 RCV000786776
RCV000786777
Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia Likely pathogenic; Pathogenic rs1560667389 RCV001796213
Calvarial doughnut lesions-bone fragility syndrome Likely pathogenic; Pathogenic rs1560667389 RCV000786775
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Ovarian serous cystadenocarcinoma Uncertain significance rs752164503 RCV005928462
SGMS2-related disorder Benign; Likely benign; Uncertain significance rs150784082, rs139136267, rs1327139774, rs147662224, rs9998850 RCV003978668
RCV003943704
RCV003392793
RCV003400026
RCV003915908
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Bone Diseases Associate 37175737
Carcinoma Hepatocellular Associate 21418611
Carcinoma Squamous Cell Associate 36056909
Chronic Kidney Disease Mineral and Bone Disorder Associate 30779713
Colorectal Neoplasms Associate 36691044
Corneal Endothelial Cell Loss Stimulate 30272329
Doughnut Lesions of Skull Familial Associate 34156493, 37175737
Facial Nerve Diseases Associate 30779713
Giant Cell Tumor of Bone Associate 34096319
Growth Disorders Associate 30779713