Seroatlas · Human Serome Atlas

SGMS2

Phosphatidylcholine:ceramide cholinephosphotransferase 2

Also known as: MGC26963, SMS2, SMS2_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q8NHU3
Gene
SGMS2
Ensembl
ENSG00000164023
Chromosome
4
Canonical length
365 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location
Nucleoplasm,Golgi apparatus

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

365 residues, UniProt reviewed canonical sequence.

>Q8NHU3|SGMS2
     1  MDIIETAKLE EHLENQPSDP TNTYARPAEP VEEENKNGNG KPKSLSSGLR KGTKKYPDYI
    61  QIAMPTESRN KFPLEWWKTG IAFIYAVFNL VLTTVMITVV HERVPPKELS PPLPDKFFDY
   121  IDRVKWAFSV SEINGIILVG LWITQWLFLR YKSIVGRRFC FIIGTLYLYR CITMYVTTLP
   181  VPGMHFQCAP KLNGDSQAKV QRILRLISGG GLSITGSHIL CGDFLFSGHT VTLTLTYLFI
   241  KEYSPRHFWW YHLICWLLSA AGIICILVAH EHYTIDVIIA YYITTRLFWW YHSMANEKNL
   301  KVSSQTNFLS RAWWFPIFYF FEKNVQGSIP CCFSWPLSWP PGCFKSSCKK YSRVQKIGED
   361  NEKST

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SGMS2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
6
Mean surface accessibility (rSASA)
0.38
Highest tissue expression
37 nTPM

Expression across tissuesHPA

Tissue

  • gallbladder: 37 nTPM
  • smooth muscle: 27 nTPM
  • lung: 26 nTPM
  • liver: 19 nTPM
  • duodenum: 18 nTPM
  • thyroid gland: 17 nTPM

Single-cell type

  • alveolar cells type 2: 1,224 nCPM
  • endometrial ciliated cells: 1,038 nCPM
  • endometrial glandular cells: 1,004 nCPM
  • transitional alveolar cells: 857 nCPM
  • endometrial luminal cells: 789 nCPM
  • endometrial secretory cells: 539 nCPM

Immune cell

  • myeloid DC: 4.2 nTPM
  • classical monocyte: 3.7 nTPM
  • eosinophil: 2.4 nTPM
  • intermediate monocyte: 1.5 nTPM
  • non-classical monocyte: 1.4 nTPM
  • total PBMC: 1 nTPM

Brain region

  • choroid plexus: 91 nTPM
  • white matter: 56 nTPM
  • basal ganglia: 44 nTPM
  • midbrain: 43 nTPM
  • medulla oblongata: 42 nTPM
  • pons: 37 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SGMS2.

Disease | AllUniProt

Conditions SGMS2 is implicated in, by any mechanism.

  • Calvarial doughnut lesions with bone fragility (CDL) MIM:126550
  • Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia (CDLSMD) MIM:126550

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 180 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia
  • Calvarial doughnut lesions-bone fragility syndrome
  • Inborn genetic diseases
  • Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.58
gnomAD pLI
0.06
gnomAD missense Z
1.1
DepMap mean gene effect
0.01
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SGMS2 as an antibody target. Whether an autoantibody or antibody against SGMS2 could matter depends on whether native SGMS2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SGMS2 is annotated at the cell surface, where native SGMS2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label SGMS2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SGMS2. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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