2. Gene
  3. SGMS2 - sphingomyelin synthase 2 Gene

SGMS2 - sphingomyelin synthase 2 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：鞘磷脂合酶 2

种属: Homo sapiens

同用名: CDL; SMS2

基因 ID: 166929 | 基因类型: protein coding

关于 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.

功能概要

鞘磷脂是细胞膜和高尔基体膜的主要成分，通过将磷酸胆碱从磷脂酰胆碱转移到神经酰胺上而制成，二酰甘油作为副产物。由该基因编码的蛋白质是一种主要在细胞膜上催化该反应的酶。合成是可逆的，这种酶可以催化任一方向的反应。编码的蛋白质是细胞生长所必需的。已发现该基因的三个转录变体编码相同的蛋白质。有更多变体的证据，但尚未确定其转录本的全长性质。[RefSeq 提供，2008 年 10 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables ceramide cholinephosphotransferase activity IDA
IDA: 通过直接分析推断
14685263 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
enables sphingomyelin synthase activity IDA
IDA: 通过直接分析推断
17982138 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in regulation of bone mineralization IMP
IMP: 通过突变表型推断
30779713 GOA
involved in sphingomyelin biosynthetic process IDA
IDA: 通过直接分析推断
14685263 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi apparatus IDA
IDA: 通过直接分析推断
14685263 GOA
located in Golgi membrane IDA
IDA: 通过直接分析推断
14685263 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
14685263 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

SGMS2 蛋白结构

PAP2_C

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

  • 0
  • 100
  • 200
  • 300
  • 365 a.a.
蛋白主名 其他名称

phosphatidylcholine:ceramide cholinephosphotransferase 2

SM synthase

重组 SGMS2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P73632 Sphingomyelin Synthase 2/SGMS2 Protein, Human (HEK293, Fc) Q8NHU3 (M1-T79) ≥95%

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS12806 SGMS2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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
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