Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
166929
Gene name Gene Name - the full gene name approved by the HGNC.
Sphingomyelin synthase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SGMS2
Synonyms (NCBI Gene) Gene synonyms aliases
CDL, SMS2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CDL
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q25
Summary Summary 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
miRNA miRNA 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 IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611574 28395 ENSG00000164023
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
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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Osteoporosis Osteoporosis rs72658152, rs72667023, rs587776916, rs72656370, rs768615287
Scoliosis Scoliosis, unspecified rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Unknown
Disease term Disease name Evidence References Source
Monoclonal Gammapathies Monoclonal Gammapathies GWAS
Associations from Text Mining
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