InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: SGMS2

Summary

InnateDB Gene

IDBG-33373.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SGMS2

Gene Name

sphingomyelin synthase 2

Synonyms

Species

Homo sapiens

Ensembl Gene

ENSG00000164023

Encoded Proteins

IDBP-33375

sphingomyelin synthase 2

IDBP-241086

sphingomyelin synthase 2

IDBP-241088

sphingomyelin synthase 2

IDBP-483096

sphingomyelin synthase 2

IDBP-474623

sphingomyelin synthase 2

IDBP-476757

sphingomyelin synthase 2

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

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 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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 4:107824563-107915047

Strand

Forward strand

Band

q25

Transcripts

ENST00000359079	ENSP00000351981
ENST00000394686	ENSP00000378178
ENST00000394684	ENSP00000378176
ENST00000506462
ENST00000515332
ENST00000503862	ENSP00000428176
ENST00000506993	ENSP00000428294
ENST00000503385	ENSP00000430172
ENST00000504754

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003824	catalytic activity
GO:0016301	kinase activity
GO:0033188	sphingomyelin synthase activity
GO:0047493	ceramide cholinephosphotransferase activity

Biological Process

GO:0006665	sphingolipid metabolic process
GO:0006686	sphingomyelin biosynthetic process
GO:0016310	phosphorylation
GO:0030148	sphingolipid biosynthetic process
GO:0044281	small molecule metabolic process

Cellular Component

GO:0005794	Golgi apparatus
GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0016020	membrane
GO:0030173	integral component of Golgi membrane
GO:0045203	integral component of cell outer membrane

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000050931

View Gene Order

ENSBTAG00000016805

Not yet available

Pathways

NETPATH

REACTOME

REACT_115810

Sphingolipid de novo biosynthesis pathway

REACT_19323

Sphingolipid metabolism pathway

REACT_22258

Metabolism of lipids and lipoproteins pathway

REACT_111217

Metabolism pathway

KEGG

hsa00600

Sphingolipid metabolism pathway

INOH

PID NCI

Cross-References

SwissProt

Q8NHU3

TrEMBL

A0A024RDH4 E5RGG5 E5RJ63 E5RJU3

UniProt Splice Variant

Entrez Gene

166929

UniGene

Hs.48343 Hs.595423 Hs.706939

RefSeq

NM_001136258 XM_006714121 NM_001136257 NM_152621

HUGO

HGNC:28395

OMIM

611574

CCDS

CCDS3677

HPRD

11323

IMGT

EMBL

AC096564 AF452717 AK290344 AK314049 BC028705 BC041369 CH471057

GenPept

AAH28705 AAH41369 AAP13352 BAF83033 BAG36758 EAX06211 EAX06212 EAX06213

RNA Seq Atlas

166929