SGMS2 - sphingomyelin synthase 2 Gene

Also Known as CDL; SMS2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 166929

About SGMS2

Cytogenetic location: 4q25 Genomic coordinates (GRCh38): 4:107,824,563-107,915,047 (from NCBI)

This gene has 10 transcripts (splice variants), 272 orthologues, 2 paralogues and is associated with 1 phenotype. Broad expression in gall bladder (RPKM 18.4), lung (RPKM 12.8) and 20 other tissues.

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]

SGMS2 Products (9)

mRNA Protein Name
NM_001136257.2 NP_001129729.1 phosphatidylcholine:ceramide cholinephosphotransferase 2 isoform 1
NM_001136258.2 NP_001129730.1 phosphatidylcholine:ceramide cholinephosphotransferase 2 isoform 1
NM_001375905.1 NP_001362834.1 phosphatidylcholine:ceramide cholinephosphotransferase 2 isoform 1
NM_001375906.1 NP_001362835.1 phosphatidylcholine:ceramide cholinephosphotransferase 2 isoform 1
NM_001375907.1 NP_001362836.1 phosphatidylcholine:ceramide cholinephosphotransferase 2 isoform 1
NM_001375908.1 NP_001362837.1 phosphatidylcholine:ceramide cholinephosphotransferase 2 isoform 1
NM_001375910.1 NP_001362839.1 phosphatidylcholine:ceramide cholinephosphotransferase 2 isoform 2
NM_001375911.1 NP_001362840.1 phosphatidylcholine:ceramide cholinephosphotransferase 2 isoform 3
NM_152621.6 NP_689834.1 phosphatidylcholine:ceramide cholinephosphotransferase 2 isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables ceramide cholinephosphotransferase activity IDA
IDA: Inferred from direct assay
14685263 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
enables sphingomyelin synthase activity IDA
IDA: Inferred from direct assay
17982138 GOA
Biological Process GO Annotation Evidence References Source
involved in regulation of bone mineralization IMP
IMP: Inferred from mutant phenotype
30779713 GOA
involved in sphingomyelin biosynthetic process IDA
IDA: Inferred from direct assay
14685263 GOA
Cellular Component GO Annotation Evidence References Source
located in Golgi apparatus IDA
IDA: Inferred from direct assay
14685263 GOA
located in Golgi membrane IDA
IDA: Inferred from direct assay
14685263 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
14685263 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SGMS2 Protein Structure

PAP2_C

PAP2_C: PAP2 superfamily C-terminal (220 - 293)

  • 0
  • 100
  • 200
  • 300
  • 365 a.a.
Protein Preferred Names Protein Names

phosphatidylcholine:ceramide cholinephosphotransferase 2

  • SM synthase

SGMS2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SGMS2 Q8NHU3 GPX8 Homo sapiens Q8TED1
Validated Y2H
32296183
Intra
SGMS2 Q8NHU3 GPX8 Homo sapiens Q8TED1
Y2H Array
32296183
Intra
SGMS2 Q8NHU3 GPX8 Homo sapiens Q8TED1
Y2H Prey Pooling
32296183
Intra
SGMS2 Q8NHU3 LPAR3 Homo sapiens Q9UBY5
Validated Y2H
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant SGMS2 Proteins

Cat. No. Product Name Accession Purity
HY-P73632 Sphingomyelin Synthase 2/SGMS2 Protein, Human (HEK293, Fc) Q8NHU3 (M1-T79) ≥ 95%, as determined by reducing SDS-PAGE.

SGMS2 Antibodies

Cat. No. Product Name Application Reactivity
HY-P89705 SMS2 Antibody (YA9049) WB, IP, ELISA human

Related Diseases

Diseases Alias
Calvarial Doughnut Lesions With Bone Fragility

  • Calvarial Doughnut Lesions With Bone Fragility With Or Without Spondylometaphyseal Dysplasia

  • Calvarial Doughnut Lesions-Bone Fragility Syndrome

  • CDL

  • Doughnut Lesions Of Skull, Familial

  • Calvarial Doughnut Lesions With Bone Fragility And Spondylometaphyseal Dysplasia

  • Familial Doughnut Lesions Of Skull

  • CDLSMD
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy

  • Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome

  • SMDCRD

  • Smd-Crd

  • Dysplasia, Spondylometaphyseal, With Cone-Rod Dystrophy
Atrial Septal Defect 4

  • ASD4

  • Atrial Heart Septal Defect 4

  • Septal Defect, Atrial, Type 4
Osteoporosis

  • Postmenopausal Osteoporosis

  • Osteoporosis, Postmenopausal

  • Bone Mineral Density Quantitative Trait Locus

  • Bmnd

  • Osteoporosis, Involutional

  • Osteoporosis, Susceptibility To

  • Osteoporosis, Postmenopausal, Susceptibility

  • Bone Mineral Density Variation Qtl, Osteoporosis

  • OSTEOP

  • Involutional Osteoporosis

  • Senile Osteoporosis

  • Osteoporosis Postmenopausal

  • Bone Mineral Density, Quantitative Trait Locus

  • Osteoporosis, Senile

  • Idiopathic Osteoporosis

  • Bone Rarefaction Nos

  • Type 1 Osteoporosis
Lenz-Majewski Hyperostotic Dwarfism

  • Lenz-Majewski Syndrome

  • Lenz Majewski Hyperostotic Dwarfism

  • LMHD

  • Hyperostotic Dwarfism Lenz-Majewski Type

  • Lenz-Majewski Hyperostotic Dysplasia

  • Multiple Congenital Anomalies, Intellectual Disability And Progressive Skeletal Sclerosis

  • Lms
Bone Disease

  • Bone Diseases

  • Skeletal Disease

  • Skeletal Disorder

  • Disorder Of Skeletal System
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS12806 SGMS2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS19237 Sgms2 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS25726 Sgms2 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris SGMS2 VGNC VGNC:46099
Felis catus SGMS2 VGNC VGNC:65081
Rattus norvegicus SGMS2 RGD RGD:1305778
Bos taurus SGMS2 VGNC VGNC:34544
Macaca mulatta SGMS2 VGNC VGNC:77320
Mus musculus SGMS2 MGD MGI:1921692
Others SGMS2 NCBI