SGMS2 (sphingomyelin synthase 2)
Gene | |
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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166929 |
Gene name
Gene Name - the full gene name approved by the HGNC.
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Sphingomyelin synthase 2 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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SGMS2 |
Synonyms (NCBI Gene)
Gene synonyms aliases
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CDL, SMS2 |
Disease Acronyms (UniProt)
Disease acronyms from UniProt database
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CDL |
Chromosome
Chromosome number
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4 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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4q25 |
Summary
Summary of gene provided in NCBI Entrez Gene.
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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.
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Gene ontology (GO)
Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDs
Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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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
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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 |
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Sequence length | 365 | ||||||||||
Interactions | View interactions |
Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease information provided by ClinVar, GenCC, and GWAS databases.
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