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Gene : SGMS2 Homo sapiens

Name  ? sphingomyelin synthase 2 Cytological Location  4q25
Brief Description  sphingomyelin synthase 2
Description  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 reaction primarily at the cell membrane. The synthesis is reversible, and this enzyme can catalyze the reaction in either direction. The encoded protein is required for cell growth. Three transcript variants encoding the same protein have been found for this gene. There is evidence for more variants, but the full-length nature of their transcripts has not been determined.[provided by RefSeq, Oct 2008]
  • synonyms:
  • SGMS2,
  • HGNC:28395,
  • MGC26963,
  • BC041369,
  • OTTHUMG00000131811,
  • SMS2,
  • NM_152621,
  • SMS2,
  • CDL,
  • uc003hyl.6
  • identifiers:
  • 166929,
  • ENSG00000164023,
  • SGMS2

Genome feature

Region: gene ? Length: 91403  
Location: 4:107823645-107915047 Cyto location: 4q25


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

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Genomics

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Proteins

Gene --> Proteins.

SNPs

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Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Expression

Gene(s) --> Significant SNPs (GTex data)

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Other

201 SN Ps

5 Cross References

18 Data Sets

8 Homologues

0 Located Features

97 Rna Seq Results