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sphingomyelin synthase 2

Summary

Gene Symbol

SGMS2

Aliases

MGC26963
SMS2

Organism

Homo sapiens (human)

External Links

NCBI Gene

166929

HGNC

28395

KEGG Gene ID

hsa:166929

PubChem

166929

Alliance of Genome Resources

HGNC:28395

Annotation

Keyword

Cell membrane
Disease variant
Golgi apparatus
Kinase
Osteoporosis
Palmitate
Reference proteome
Sphingolipid metabolism
Transmembrane helix

Proteins

Displaying 1 entry
UniProt	Protein Name
Q8NHU3	Sphingomyelin synthase 2

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 5** entries
GO Term	Evidence Code	PMID
sphingomyelin biosynthetic process	IBA IDA	14685263 17982138
ceramide biosynthetic process	IBA
regulation of bone mineralization	IMP	30779713
ceramide phosphoethanolamine biosynthetic process	IEA
sphingolipid biosynthetic process

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

cellular nitrogen compound metabolic process [inference]

cellular nitrogen compound biosynthetic process [inference]

amide biosynthetic process [inference]

amide metabolic process [inference]

ceramide metabolic process [inference]

ceramide biosynthetic process

sphingomyelin metabolic process [inference]

sphingomyelin biosynthetic process

amide biosynthetic process [inference]

organonitrogen compound metabolic process [inference]

sphingolipid metabolic process [inference]

ceramide metabolic process [inference]

ceramide biosynthetic process

sphingomyelin metabolic process [inference]

sphingomyelin biosynthetic process

sphingolipid biosynthetic process

ceramide phosphoethanolamine metabolic process [inference]

ceramide phosphoethanolamine biosynthetic process

organonitrogen compound biosynthetic process [inference]

sphingolipid biosynthetic process

biosynthetic process [inference]

cellular biosynthetic process [inference]

cellular nitrogen compound biosynthetic process [inference]

amide biosynthetic process [inference]

membrane lipid biosynthetic process [inference]

sphingolipid biosynthetic process

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

phospholipid biosynthetic process [inference]

membrane lipid biosynthetic process [inference]

sphingolipid biosynthetic process

organophosphate biosynthetic process [inference]

phospholipid biosynthetic process [inference]

organonitrogen compound biosynthetic process [inference]

sphingolipid biosynthetic process

cellular metabolic process [inference]

phosphorus metabolic process [inference]

phosphate-containing compound metabolic process [inference]

phospholipid metabolic process [inference]

sphingomyelin metabolic process [inference]

sphingomyelin biosynthetic process

phospholipid biosynthetic process [inference]

ceramide phosphoethanolamine metabolic process [inference]

ceramide phosphoethanolamine biosynthetic process

organophosphate metabolic process [inference]

phospholipid metabolic process [inference]

sphingomyelin metabolic process [inference]

sphingomyelin biosynthetic process

phospholipid biosynthetic process [inference]

ceramide phosphoethanolamine metabolic process [inference]

ceramide phosphoethanolamine biosynthetic process

organophosphate biosynthetic process [inference]

phospholipid biosynthetic process [inference]

cellular nitrogen compound metabolic process [inference]

cellular nitrogen compound biosynthetic process [inference]

amide biosynthetic process [inference]

cellular biosynthetic process [inference]

cellular nitrogen compound biosynthetic process [inference]

amide biosynthetic process [inference]

membrane lipid biosynthetic process [inference]

sphingolipid biosynthetic process

cellular lipid metabolic process [inference]

membrane lipid metabolic process [inference]

sphingolipid metabolic process [inference]

ceramide metabolic process [inference]

ceramide biosynthetic process

sphingomyelin metabolic process [inference]

sphingomyelin biosynthetic process

sphingolipid biosynthetic process

ceramide phosphoethanolamine metabolic process [inference]

ceramide phosphoethanolamine biosynthetic process

membrane lipid biosynthetic process [inference]

sphingolipid biosynthetic process

phospholipid metabolic process [inference]

sphingomyelin metabolic process [inference]

sphingomyelin biosynthetic process

phospholipid biosynthetic process [inference]

ceramide phosphoethanolamine metabolic process [inference]

ceramide phosphoethanolamine biosynthetic process

primary metabolic process [inference]

lipid metabolic process [inference]

lipid biosynthetic process [inference]

phospholipid biosynthetic process [inference]

membrane lipid biosynthetic process [inference]

sphingolipid biosynthetic process

cellular lipid metabolic process [inference]

membrane lipid metabolic process [inference]

sphingolipid metabolic process [inference]

ceramide metabolic process [inference]

ceramide biosynthetic process

sphingomyelin metabolic process [inference]

sphingomyelin biosynthetic process

sphingolipid biosynthetic process

ceramide phosphoethanolamine metabolic process [inference]

ceramide phosphoethanolamine biosynthetic process

membrane lipid biosynthetic process [inference]

sphingolipid biosynthetic process

phospholipid metabolic process [inference]

sphingomyelin metabolic process [inference]

sphingomyelin biosynthetic process

phospholipid biosynthetic process [inference]

ceramide phosphoethanolamine metabolic process [inference]

ceramide phosphoethanolamine biosynthetic process

organic substance metabolic process [inference]

lipid metabolic process [inference]

lipid biosynthetic process [inference]

phospholipid biosynthetic process [inference]

membrane lipid biosynthetic process [inference]

sphingolipid biosynthetic process

cellular lipid metabolic process [inference]

membrane lipid metabolic process [inference]

sphingolipid metabolic process [inference]

ceramide metabolic process [inference]

ceramide biosynthetic process

sphingomyelin metabolic process [inference]

sphingomyelin biosynthetic process

sphingolipid biosynthetic process

ceramide phosphoethanolamine metabolic process [inference]

ceramide phosphoethanolamine biosynthetic process

membrane lipid biosynthetic process [inference]

sphingolipid biosynthetic process

phospholipid metabolic process [inference]

sphingomyelin metabolic process [inference]

sphingomyelin biosynthetic process

phospholipid biosynthetic process [inference]

ceramide phosphoethanolamine metabolic process [inference]

ceramide phosphoethanolamine biosynthetic process

organophosphate metabolic process [inference]

phospholipid metabolic process [inference]

sphingomyelin metabolic process [inference]

sphingomyelin biosynthetic process

phospholipid biosynthetic process [inference]

ceramide phosphoethanolamine metabolic process [inference]

ceramide phosphoethanolamine biosynthetic process

organophosphate biosynthetic process [inference]

phospholipid biosynthetic process [inference]

organonitrogen compound metabolic process [inference]

sphingolipid metabolic process [inference]

ceramide metabolic process [inference]

ceramide biosynthetic process

sphingomyelin metabolic process [inference]

sphingomyelin biosynthetic process

sphingolipid biosynthetic process

ceramide phosphoethanolamine metabolic process [inference]

ceramide phosphoethanolamine biosynthetic process

organonitrogen compound biosynthetic process [inference]

sphingolipid biosynthetic process

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

phospholipid biosynthetic process [inference]

membrane lipid biosynthetic process [inference]

sphingolipid biosynthetic process

organophosphate biosynthetic process [inference]

phospholipid biosynthetic process [inference]

organonitrogen compound biosynthetic process [inference]

sphingolipid biosynthetic process

cellular process [inference]

cellular metabolic process [inference]

phosphorus metabolic process [inference]

phosphate-containing compound metabolic process [inference]

phospholipid metabolic process [inference]

sphingomyelin metabolic process [inference]

sphingomyelin biosynthetic process

phospholipid biosynthetic process [inference]

ceramide phosphoethanolamine metabolic process [inference]

ceramide phosphoethanolamine biosynthetic process

organophosphate metabolic process [inference]

phospholipid metabolic process [inference]

sphingomyelin metabolic process [inference]

sphingomyelin biosynthetic process

phospholipid biosynthetic process [inference]

ceramide phosphoethanolamine metabolic process [inference]

ceramide phosphoethanolamine biosynthetic process

organophosphate biosynthetic process [inference]

phospholipid biosynthetic process [inference]

cellular nitrogen compound metabolic process [inference]

cellular nitrogen compound biosynthetic process [inference]

amide biosynthetic process [inference]

cellular biosynthetic process [inference]

cellular nitrogen compound biosynthetic process [inference]

amide biosynthetic process [inference]

membrane lipid biosynthetic process [inference]

sphingolipid biosynthetic process

cellular lipid metabolic process [inference]

membrane lipid metabolic process [inference]

sphingolipid metabolic process [inference]

ceramide metabolic process [inference]

ceramide biosynthetic process

sphingomyelin metabolic process [inference]

sphingomyelin biosynthetic process

sphingolipid biosynthetic process

ceramide phosphoethanolamine metabolic process [inference]

ceramide phosphoethanolamine biosynthetic process

membrane lipid biosynthetic process [inference]

sphingolipid biosynthetic process

phospholipid metabolic process [inference]

sphingomyelin metabolic process [inference]

sphingomyelin biosynthetic process

phospholipid biosynthetic process [inference]

ceramide phosphoethanolamine metabolic process [inference]

ceramide phosphoethanolamine biosynthetic process

biological regulation [inference]

regulation of biological process [inference]

regulation of developmental process [inference]

regulation of multicellular organismal development [inference]

regulation of biomineral tissue development [inference]

regulation of bone mineralization

regulation of multicellular organismal process [inference]

regulation of ossification [inference]

regulation of bone mineralization

regulation of multicellular organismal development [inference]

regulation of biomineral tissue development [inference]

regulation of bone mineralization

Displaying **all 5** entries
GO Term	Evidence Code	PMID
endoplasmic reticulum membrane	IBA
plasma membrane	IBA IDA TAS	14685263 30779713
Golgi apparatus	IDA	14685263
Golgi membrane	IBA IDA	14685263
nucleoplasm	IDA

GO Hierarchy

cellular component

cellular anatomical entity [inference]

nucleoplasm

membrane [inference]

plasma membrane

organelle membrane [inference]

endoplasmic reticulum membrane

bounding membrane of organelle [inference]

Golgi membrane

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

Golgi apparatus

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

Golgi apparatus

Displaying **all 5** entries
GO Term	Evidence Code	PMID
kinase activity	IEA
ceramide phosphoethanolamine synthase activity	IEA
ceramide cholinephosphotransferase activity	IBA IDA	14685263
protein binding	IPI	32296183
sphingomyelin synthase activity	IBA IDA TAS	17982138 30779713

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

transferase activity, transferring phosphorus-containing groups [inference]

kinase activity

phosphotransferase activity, for other substituted phosphate groups [inference]

binding [inference]

protein binding

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000164023

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K04714

Name

shingomyelin synthase [EC:2.7.8.27]

References

Rhea

RHEA:18765

an N-acylsphing-4-enine + a 1,2-diacyl-sn-glycero-3-phosphocholine

a sphingomyelin + a 1,2-diacyl-sn-glycerol

Enzyme

2.7.8.27

PMID

Disease

Disease Ontology

Displaying entries **1 - 10** of 55 in total

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DO ID	Disease Name	Source
DOID:0040085	bacterial sepsis	DisGeNET
DOID:0060180	colitis	DisGeNET
DOID:0060189	ileitis	DisGeNET
DOID:0060190	ileocolitis	DisGeNET
DOID:0060249	scoliosis	DisGeNET
DOID:0080348	Alzheimer's disease 1	DisGeNET
DOID:0080721	calvarial doughnut lesions with bone fragility	Alliance of Genome Resources
DOID:0110035	Alzheimer's disease 2	DisGeNET
DOID:0110037	Alzheimer's disease 5	DisGeNET
DOID:0110038	Alzheimer's disease 6	DisGeNET

The Human Phenotype Ontology

Displaying entries **1 - 10** of 13 in total

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HPO ID	HPO Term
HP:0000006	Autosomal dominant inheritance
HP:0000410	Mixed hearing impairment
HP:0000670	Carious teeth
HP:0000926	Platyspondyly
HP:0000938	Osteopenia
HP:0000939	Osteoporosis
HP:0001270	Motor delay
HP:0002650	Scoliosis
HP:0002684	Thickened calvaria
HP:0002757	Recurrent fractures

Displaying 1 entry
Disease ID	Disease Name
OMIM:126550	calvarial doughnut lesions-bone fragility syndrome

PubChem Disease

MedGen Diseases

Calvarial doughnut lesions-bone fragility syndrome

OMIM Phenotypes

CALVARIAL DOUGHNUT LESIONS WITH BONE FRAGILITY; CDL

KEGG Diseases

Calvarial doughnut lesions with bone fragility

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

LIPID MAPS Gene / Proteome Database

LMPD ID: LMP001881
Gene Name: sphingomyelin synthase 2

Ortholog

Displaying entries **1 - 10** of 96 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	178072	WB:WBGene00004892
Callorhinchus milii	103187947		CALMI37901
Latimeria chalumnae	102360282		LATCH01785
Danio rerio	556193	ZFIN:ZDB-GENE-070730-2	DANRE17309
Danio rerio	445247	ZFIN:ZDB-GENE-040801-162
Astyanax mexicanus	103032666		ASTMX13877
Ictalurus punctatus	108262964		ICTPU26345
Electrophorus electricus	113591284		ELEEL46459
Salmo salar	106602292		SALSA24500
Salmo salar	106610338		SALSA24500

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

LIPID MAPS Gene / Proteome Database

International Collaboration

Acknowledgements