SGMS2 - sphingomyelin synthase 2 Gene

Homo sapiens

Also known as CDL; SMS2

Gene ID: 166929 | Gene type: protein coding

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

SGMS2 Protein Structure

PAP2_C

0
100
200
300
365 a.a.

Protein Preferred Names

Protein Names

phosphatidylcholine:ceramide cholinephosphotransferase 2

SM synthase

Recombinant SGMS2 Proteins

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12806	SGMS2 Human Pre-designed siRNA Set A		/	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

Name
Email *

	Sorry, but the email address you supplied was invalid.