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SGMS2 sphingomyelin synthase 2 [ Homo sapiens (human) ]

Gene ID: 166929, updated on 17-Apr-2020

Summary

Official Symbol
SGMS2provided by HGNC
Official Full Name
sphingomyelin synthase 2provided by HGNC
Primary source
HGNC:HGNC:28395
See related
Ensembl:ENSG00000164023 MIM:611574
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CDL; SMS2
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]
Expression
Broad expression in gall bladder (RPKM 18.4), lung (RPKM 12.8) and 20 other tissues See more
Orthologs

Genomic context

See SGMS2 in Genome Data Viewer
Location:
4q25
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (107823645..107915047)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (108745721..108836203)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377358 Neighboring gene uncharacterized LOC105377357 Neighboring gene 3'-phosphoadenosine 5'-phosphosulfate synthase 1 Neighboring gene CYP2U1 and SGMS2 antisense RNA 1 Neighboring gene RNA, U6 small nuclear 733, pseudogene Neighboring gene uncharacterized LOC107986298 Neighboring gene uncharacterized LOC107986299 Neighboring gene cytochrome P450 family 2 subfamily U member 1 Neighboring gene hydroxyacyl-CoA dehydrogenase

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env SMS2 is involved in HIV-1 gp120-induced phosphorylation and activation of PYK2 and polymerization of F-actin PubMed
env SMS2, but not SMS1, is involved in enhancement of HIV-1 gp120/gp41-mediated membrane fusion through CD4 receptor and CCR5/CXCR4 coreceptors PubMed
Envelope transmembrane glycoprotein gp41 env SMS2, but not SMS1, is involved in enhancement of HIV-1 gp120/gp41-mediated membrane fusion through CD4 receptor and CCR5/CXCR4 coreceptors PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC26963

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ceramide cholinephosphotransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ceramide cholinephosphotransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
ceramide phosphoethanolamine synthase activity IEA
Inferred from Electronic Annotation
more info
 
kinase activity IEA
Inferred from Electronic Annotation
more info
 
sphingomyelin synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sphingomyelin synthase activity IDA
Inferred from Direct Assay
more info
PubMed 
sphingomyelin synthase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
ceramide biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ceramide phosphoethanolamine biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
phosphorylation IEA
Inferred from Electronic Annotation
more info
 
regulation of bone mineralization IMP
Inferred from Mutant Phenotype
more info
PubMed 
sphingolipid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sphingolipid biosynthetic process TAS
Traceable Author Statement
more info
 
sphingomyelin biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sphingomyelin biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
integral component of Golgi membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of Golgi membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
phosphatidylcholine:ceramide cholinephosphotransferase 2
Names
SM synthase
NP_001129729.1
NP_001129730.1
NP_001362834.1
NP_001362835.1
NP_001362836.1
NP_001362837.1
NP_001362839.1
NP_001362840.1
NP_689834.1
XP_011530001.1
XP_011530003.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001136257.2NP_001129729.1  phosphatidylcholine:ceramide cholinephosphotransferase 2 isoform 1

    See identical proteins and their annotated locations for NP_001129729.1

    Status: REVIEWED

    Source sequence(s)
    AC096564
    Consensus CDS
    CCDS3677.1
    UniProtKB/Swiss-Prot
    Q8NHU3
    UniProtKB/TrEMBL
    A0A024RDH4
    Related
    ENSP00000351981.4, ENST00000359079.8
    Conserved Domains (1) summary
    pfam14360
    Location:220293
    PAP2_C; PAP2 superfamily C-terminal
  2. NM_001136258.2NP_001129730.1  phosphatidylcholine:ceramide cholinephosphotransferase 2 isoform 1

    See identical proteins and their annotated locations for NP_001129730.1

    Status: REVIEWED

    Source sequence(s)
    AC096564
    Consensus CDS
    CCDS3677.1
    UniProtKB/Swiss-Prot
    Q8NHU3
    UniProtKB/TrEMBL
    A0A024RDH4
    Related
    ENSP00000378176.4, ENST00000394684.8
    Conserved Domains (1) summary
    pfam14360
    Location:220293
    PAP2_C; PAP2 superfamily C-terminal
  3. NM_001375905.1NP_001362834.1  phosphatidylcholine:ceramide cholinephosphotransferase 2 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC096564
  4. NM_001375906.1NP_001362835.1  phosphatidylcholine:ceramide cholinephosphotransferase 2 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC096564
  5. NM_001375907.1NP_001362836.1  phosphatidylcholine:ceramide cholinephosphotransferase 2 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC096564
  6. NM_001375908.1NP_001362837.1  phosphatidylcholine:ceramide cholinephosphotransferase 2 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC096564
  7. NM_001375910.1NP_001362839.1  phosphatidylcholine:ceramide cholinephosphotransferase 2 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC096564
  8. NM_001375911.1NP_001362840.1  phosphatidylcholine:ceramide cholinephosphotransferase 2 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC096564
  9. NM_152621.6NP_689834.1  phosphatidylcholine:ceramide cholinephosphotransferase 2 isoform 1

    See identical proteins and their annotated locations for NP_689834.1

    Status: REVIEWED

    Source sequence(s)
    AC096564
    Consensus CDS
    CCDS3677.1
    UniProtKB/Swiss-Prot
    Q8NHU3
    UniProtKB/TrEMBL
    A0A024RDH4
    Related
    ENSP00000378178.3, ENST00000394686.3
    Conserved Domains (1) summary
    pfam14360
    Location:220293
    PAP2_C; PAP2 superfamily C-terminal

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    107823645..107915047
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011531701.2XP_011530003.1  phosphatidylcholine:ceramide cholinephosphotransferase 2 isoform X1

    See identical proteins and their annotated locations for XP_011530003.1

    UniProtKB/Swiss-Prot
    Q8NHU3
    UniProtKB/TrEMBL
    A0A024RDH4
    Conserved Domains (1) summary
    pfam14360
    Location:220293
    PAP2_C; PAP2 superfamily C-terminal
  2. XM_011531699.2XP_011530001.1  phosphatidylcholine:ceramide cholinephosphotransferase 2 isoform X1

    See identical proteins and their annotated locations for XP_011530001.1

    UniProtKB/Swiss-Prot
    Q8NHU3
    UniProtKB/TrEMBL
    A0A024RDH4
    Conserved Domains (1) summary
    pfam14360
    Location:220293
    PAP2_C; PAP2 superfamily C-terminal
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