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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SGMS2 Gene

protein-coding GIFtS: 54
GCID: GC04P108745

sphingomyelin synthase 2

Explore 3 diseases affiliated with
SGMS2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Sphingomyelin Synthase 2¹ ² ³
SMS2¹ ² ³ ⁵
EC 2.7.8.27³ ⁸
MGC26963¹
Phosphatidylcholine:Ceramide Cholinephosphotransferase 2²
SM Synthase²

External Ids:	HGNC: 28395¹	Entrez Gene: 166929²	Ensembl: ENSG00000164023⁷	OMIM: 611574⁵	UniProtKB: Q8NHU3³

Export aliases for SGMS2 gene to outside databases

Previous GC identifers: GC04P108966 GC04P104477

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SGMS2:

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)

UniProtKB/Swiss-Prot: SMS2_HUMAN, Q8NHU3

Function: Sphingomyelin synthases synthesize the sphingolipid, sphingomyelin, through transfer of the phosphatidyl head

group, phosphatidylcholine, on to the primary hydroxyl of ceramide. The reaction is bidirectional depending on the

respective levels of the sphingolipid and ceramide. Plasma membrane SMS2 can also convert phosphatidylethanolamine

(PE) to ceramide phosphatidylethanolamine (CPE). Major form in liver. Required for cell growth in certain cell types.

Regulator of cell surface levels of ceramide, an important mediator of signal transduction and apoptosis. Regulation

of sphingomyelin (SM) levels at the cell surface affects insulin sensitivity

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000004.11 NC_018915.1 NT_016354.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SGMS2 gene promoter:
TBP COUP-TF1 C/EBPbeta COUP HNF-4alpha2 GATA-1 HNF-4alpha1 COUP-TF Cart-1 LyF-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SGMS2 promoter sequence

Search SABiosciences Chromatin IP Primers for SGMS2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SGMS2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q25 Ensembl cytogenetic band: 4q25 HGNC cytogenetic band: 4q25

SGMS2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SGMS2 gene location

GeneLoc information about chromosome 4 GeneLoc Exon Structure

GeneLoc location for GC04P108745: view genomic region (about GC identifiers)

Start:	108,745,719 bp from pter	End:	108,836,203 bp from pter
Size:	90,485 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: SMS2_HUMAN, Q8NHU3 (See protein sequence)

Recommended Name: Phosphatidylcholine:ceramide cholinephosphotransferase 2

Size: 365 amino acids; 42280 Da

Subcellular location: Cell membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane

protein. Note=Predominantly plasma membrane, some in Golgi apparatus. Some localization in the perinuclear region

where it colocalizes with a sialyltransferase

Miscellaneous: Overexpression of the human protein in mouse causes increased non-HDL-sphingomyelin and non-HDL

cholesterol levels, decreased HDL-sphingomyelin and HDL-cholesterol levels and increases lipoprotein atherogenic

potential

Secondary accessions: A8K2S9 B2RA61

Explore the universe of human proteins at neXtProt for SGMS2: NX_Q8NHU3

Post-translational modifications:

Palmitoylated on Cys-331, Cys-332, Cys-343 and Cys-348; which plays an important role in plasma membrane localization¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8NHU3

4/5 DME Specific Peptides for SGMS2 (Q8NHU3) (see all 5)

GGGLSITGSH

VVHERVPPKE

AYYITTRLFWWYH

LTLTYLFIKEYSPR

SGMS2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_001129729.1 NP_001129730.1 NP_689834.1

ENSEMBL proteins:

ENSP00000378176 ENSP00000428176 ENSP00000351981 ENSP00000428294 ENSP00000378178

ENSP00000430172

Reactome Protein details: Q8NHU3
Human Recombinant Protein Products:

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	Novus Biologicals SGMS2 Proteins
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for SGMS2

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005794	Golgi apparatus	IDA	14685263
GO:0005886	plasma membrane	TAS	--
GO:0005887	integral to plasma membrane	IDA	14685263
GO:0030173	integral to Golgi membrane	IDA	14685263
GO:0045203	integral to cell outer membrane	IEA	--

SGMS2 for ontologies About GeneDecksing

SGMS2 Antibody Products:

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	Uscn ELISAs and CLIAs for SGMS2

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

SGMS2 for domains About GeneDecksing

1 InterPro domain/family:

IPR025749 Sphingomyelin_synth-like_dom

Graphical View of Domain Structure for InterPro Entry Q8NHU3

ProtoNet protein and cluster: Q8NHU3

UniProtKB/Swiss-Prot: SMS2_HUMAN, Q8NHU3

Similarity: Belongs to the sphingomyelin synthase family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: SMS2_HUMAN, Q8NHU3

Function: Sphingomyelin synthases synthesize the sphingolipid, sphingomyelin, through transfer of the phosphatidyl head

group, phosphatidylcholine, on to the primary hydroxyl of ceramide. The reaction is bidirectional depending on the

respective levels of the sphingolipid and ceramide. Plasma membrane SMS2 can also convert phosphatidylethanolamine

(PE) to ceramide phosphatidylethanolamine (CPE). Major form in liver. Required for cell growth in certain cell types.

Regulator of cell surface levels of ceramide, an important mediator of signal transduction and apoptosis. Regulation

of sphingomyelin (SM) levels at the cell surface affects insulin sensitivity

Catalytic activity: A ceramide + a phosphatidylcholine = a sphingomyelin + a 1,2-diacyl-sn-glycerol

Enzyme regulation: Inhibited by bacterial PC-phospholipase C inhibitor D609

Enzyme Number (IUBMB): EC 2.7.8.27¹ ²

miRNA Products:		OriGene 3'-UTR Clone (see all 3): SGMS2 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SGMS2
		8/79 QIAGEN miScript miRNA Assays for microRNAs that regulate SGMS2 (see all 79):
		hsa-miR-579 hsa-miR-4305 hsa-miR-30d hsa-miR-219-5p hsa-miR-342-3p hsa-miR-30a hsa-miR-409-5p hsa-miR-3622a-5p

		SwitchGear 3'UTR luciferase reporter plasmid: SGMS2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SGMS2 (see all 7) OriGene shRNA RFP: SGMS2 OriGene siRNA: SGMS2
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SGMS2

Gene Editing
Products:

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		GenScript: all cDNA clones in your preferred vector (see all 3): SGMS2 (NM_152621)
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		DNA2.0 Custom Codon Optimized Gene Synthesis Service for SGMS2
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SGMS2

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for SGMS2
		Search LifeMap BioReagents cell lines for SGMS2

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SGMS2

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0016301	kinase activity	IEA	--
GO:0033188	sphingomyelin synthase activity	IEA	--
GO:0047493	ceramide cholinephosphotransferase activity	IDA	14685263

SGMS2 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Sgms2^tm1Jia for SGMS2
     7 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Sgms2):

adipose tissue	cellular	growth/size	hematopoietic system	homeostasis/metabolism
immune system	liver/biliary system

SGMS2 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Sphingolipid metabolism

	Sphingolipid metabolism	1.00			Sphingolipid de novo biosynthesis	0.46
	Sphingolipid metabolism	0.54

Metabolism

	Metabolism	1.00			Metabolism of lipids and lipoproteins	0.34
	Metabolic pathways	0.38

sphingomyelin metabolism

sphingomyelin metabolism

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 BioSystems Pathway for SGMS2

sphingomyelin metabolism

4 Reactome Pathways for SGMS2

	Sphingolipid metabolism
	Metabolism
	Metabolism of lipids and lipoproteins
	Sphingolipid de novo biosynthesis

2 Kegg Pathways (Kegg details for SGMS2):

	Sphingolipid metabolism
	Metabolic pathways

SGMS2 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for SGMS2

STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

5/22 Interacting proteins for SGMS2 (ENSP00000351981⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 22)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ACER1	ENSP00000301452⁴	STRING: ENSP00000301452
ASAH1	ENSP00000371152⁴	STRING: ENSP00000371152
ASAH2	ENSP00000378897⁴	STRING: ENSP00000378897
CERK	ENSP00000216264⁴	STRING: ENSP00000216264
DEGS1	ENSP00000316476⁴	STRING: ENSP00000316476

About this table

Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006644	phospholipid metabolic process	TAS	--
GO:0006665	sphingolipid metabolic process	TAS	--
GO:0006686	sphingomyelin biosynthetic process	IDA	14685263
GO:0030148	sphingolipid biosynthetic process	TAS	--
GO:0044281	small molecule metabolic process	TAS	--

SGMS2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for SGMS2

10/2027 HMDB Compounds for SGMS2 (see all 2027) About this table

Compound	Synonyms	CAS #	PubMed Ids
PC(O-16:0/18:2(9Z,12Z))	1-hexadecyl-2-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phosphocholine (see all 5)	88542-95-4	12486725
Cer(d18:0/12:0)		--	--
Cer(d18:0/14:0)		--	--
Cer(d18:0/16:0)		--	--
Cer(d18:0/18:0)		--	--
Cer(d18:0/18:1(11Z))		--	--
Cer(d18:0/18:1(9Z))		--	--
Cer(d18:0/20:0)		--	--
Cer(d18:0/22:0)		--	--
Cer(d18:0/22:1(13Z))		--	--

Search CenterWatch for drugs/clinical trials and news about SGMS2 / SMS2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SGMS2 gene (3 alternative transcripts):

NM_001136257.1 NM_001136258.1 NM_152621.5

Unigene Cluster for SGMS2:

Sphingomyelin synthase 2

Hs.595423 [show with all ESTs]

Unigene Representative Sequence: NM_152621

9 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000506462 ENST00000394684(uc003hyl.4 uc003hyn.3 uc003hyo.3)

ENST00000515332 ENST00000503862 ENST00000359079 ENST00000506993 ENST00000394686

ENST00000503385 ENST00000504754

miRNA Products:		OriGene 3'-UTR Clone (see all 3): SGMS2 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SGMS2
		8/79 QIAGEN miScript miRNA Assays for microRNAs that regulate SGMS2 (see all 79):
		hsa-miR-579 hsa-miR-4305 hsa-miR-30d hsa-miR-219-5p hsa-miR-342-3p hsa-miR-30a hsa-miR-409-5p hsa-miR-3622a-5p

		SwitchGear 3'UTR luciferase reporter plasmid: SGMS2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SGMS2 (see all 7) OriGene shRNA RFP: SGMS2 OriGene siRNA: SGMS2
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SGMS2

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SGMS2 (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SGMS2 (see all 3) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 3): SGMS2 (NM_152621)
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		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SGMS2

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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SGMS2
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SGMS2

Additional cDNA sequence:

AF452717.1 AK290344.1 AK314049.1 AL833599.1 BC028705.1 BC041369.2 BX649142.1

4 DOTS entries:

DT.99940162 DT.95297202 DT.97805078 DT.121276427

24/95 AceView cDNA sequences (see all 95):

AA044286 BU680203 AI453293 BP350971 CB104727 CA405597 CD244288 AF452717

AA633946 H01973 BM992772 CD366204 AI888498 AL833599 BM129814 BC028705

BI492198 BX649142 BX499403 AL703028 AI139339 BM129624 BX507445 CA424424

GeneLoc Exon Structure

5/8 Alternative Splicing Database (ASD) splice patterns (SP) for SGMS2 (see all 8) About this scheme

ExUns:	1a	·	1b	·	1c	^	2	^	3a	·	3b	^	4a	·	4b	·	4c	·	4d	^	5	^	6a	·	6b	·	6c	·	6d	·	6e	·	6f	^	7	^	8	^	9	^	10	^	11	^	12
SP1:																	-		-		-																		-		-
SP2:																					-																		-		-
SP3:											-		-		-		-		-		-
SP4:							-						-		-		-		-		-
SP5:							-				-		-		-		-		-		-

ECgene alternative splicing isoforms for SGMS2

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SGMS2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTTGTGATTT

About this image

SGMS2 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10/17 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 17)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Brain

Blood Brain Barrier

Adult Endothelial Cells

Blood Brain Barrier, Endothelium

Epicardium

Testis

Endochondral Facial Bones

Bone

Rostral Endochondral Facial Bones

Bone

Rostral Skull Membranous Bones

Bone

Stylopod Long Bone

Bone

Thoracic Rib

Bone

Zeugopod Growth Plate

Bone

Cartilage

Caudal Synchondroses

Cartilage

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See SGMS2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SGMS2

SOURCE GeneReport for Unigene cluster: Hs.595423

UniProtKB/Swiss-Prot: SMS2_HUMAN, Q8NHU3

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

SABiosciences Custom PCR Arrays for SGMS2

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SGMS2 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat SGMS2
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SGMS2
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SGMS2

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SGMS2

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for SGMS2 gene from 5/16 species (see all 16) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	SGMS2¹	sphingomyelin synthase 2	80.55(n) 89.04(a)		422529 XM_420492.3 XP_420492.1
lizard (Anolis carolinensis)	Reptilia	SGMS2⁶	--	87(a)	1 ↔ 1	GL343384.1(366290-374417)
zebrafish (Danio rerio)	Actinopterygii	sgms2¹	sphingomyelin synthase 2	63.54(n) 63.93(a)		556193 NM_001145563.1 NP_001139035.1
honey bee (Apis mellifera)	Insecta	--	--	36(a)	1 → many	Group4.19(602451-607056)
worm (Caenorhabditis elegans)	Secernentea	sms-2⁶ sms-1⁶ (see all 4)	Putative phosphatidylcholine:ceramide cholinephosp... Putative phosphatidylcholine:ceramide cholinephosp... (see all 4)	27(a) 22(a) (see all 4)	possible ortholog 1 ↔ many (see all 4)	X(944936-948882) IV(11482647-11498145)

ENSEMBL Gene Tree for SGMS2 (if available)
TreeFam Gene Tree for SGMS2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for SGMS2 gene

SAMD8² SGMS1²

3 SIMAP similar genes for SGMS2 using alignment to 4 protein entries: SMS2_HUMAN (see all proteins):

TMEM23 SGMS1 SAMD8

SGMS2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 4 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs187809563^1,2		--	108743788(+)	`CAGGCA/GACAGA`	1	--	us2k¹		0	--	--	--	--
rs1845178^1,2	C,F,A,H,	--	108743816(+)	`AAAAAT/ATTTTT`	1	--	us2k¹		8		NA WA CSA EA	367
rs76245554^1,2	C,	--	108743880(+)	`ATTTTG/TATATA`	1	--	us2k¹		0	--	--	--	--
rs192432439^1,2		--	108743913(+)	`CATCAA/GAGTAA`	1	--	us2k¹		0	--	--	--	--
rs115020761^1,2	F,	--	108744114(+)	`CAGCCT/CCTGGT`	1	--	us2k¹		1		NA	120
rs139069919^1,2		--	108744306(+)	`CTCCAC/TGGGTA`	1	--	us2k¹		0	--	--	--	--
rs142965386^1,2		--	108744536(+)	`TTATAC/GTTTTT`	1	--	us2k¹		0	--	--	--	--
rs9996617^1,2	C,F,	--	108744575(+)	`TTTTTT/CCCACA`	1	--	us2k¹ trp³		3		WA NA EA	358
rs113525405^1,2		--	108744585(+)	`AACCTC/AGCCAG`	1	--	us2k¹		1		CSA	2
rs200992923^1,2		--	108744698(+)	`TTAGA-/TTTTTT`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for SGMS2 (108745719 - 108836203 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for SGMS2
1 CNV: 68780
1 Indel: 68781

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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SGMS2 for disorders           About GeneDecksing

OMIM gene information: 611574    OMIM disorders: --

3 diseases for SGMS2:    About MalaCards

alcohol dependence alcoholism cholesterol

Human Genome Epidemiology (HuGE) Navigator: SGMS2 (1 document)

Export disorders for SGMS2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for SGMS2 gene, integrated from 9 sources (see all 25):
(articles sorted by number of sources associating them with SGMS2)

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Identification of a family of animal sphingomyelin synthases. (PubMed id 14685263)^{1, 2, 3} Huitema K.... Holthuis J.C. (2004)
Sphingomyelin synthase 2 is palmitoylated at the COOH-terminal tail, which is involved in its localization in plasma membranes. (PubMed id 19233134)^{1, 2, 9} Tani M. and Kuge O. (2009)
The domain responsible for sphingomyelin synthase (SMS) activity. (PubMed id 18694848)^{1, 2} Yeang C....Jiang X.C. (2008)
Both sphingomyelin synthases SMS1 and SMS2 are required for sphingomyelin homeostasis and growth in human HeLa cells. (PubMed id 17449912)^{1, 2} Tafesse F.G.... Holthuis J.C.M. (2007)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Adenovirus-mediated sphingomyelin synthase 2 increase s atherosclerotic lesions in ApoE KO mice. (PubMed id 21235823)¹ Wang X....Wu M. (2011)
Sphingomyelin and sphingomyelin synthase (SMS) in the malignant transformation of glioma cells and in 2-hydroxyoleic acid therapy. (PubMed id 22106271)¹ Barcelo-Coblijn G....Escriba P.V. (2011)
Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)¹ Kim W....Gygi S.P. (2011)
Sphingomyelin synthases regulate protein trafficking a nd secretion. (PubMed id 21980337)¹ Subathra M....Luberto C. (2011)
Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)¹ Danielsen J.M....Nielsen M.L. (2011)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 166929	HGNC: 28395	AceView: MGC26963	Ensembl:ENSG00000164023	euGenes: HUgn166929
ECgene: SGMS2	Kegg: 166929	H-InvDB: SGMS2

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for SGMS2	Pharmacogenomics, SNPs, Pathways

Intellectual Property for SGMS2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for SGMS2 gene:
Search GeneIP for patents involving SGMS2

GeneCards and IP:
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sphingomyelin synthase 2

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