SMPD3 - sphingomyelin phosphodiesterase 3 Gene

中文名称：鞘磷脂磷酸二酯酶 3

种属: Homo sapiens

同用名: NSMASE2

基因 ID: 55512 | 基因类型: protein coding

关于 SMPD3

Cytogenetic location: 16q22.1 Genomic coordinates (GRCh38): 16:68,358,327-68,448,508 (from NCBI)

This gene has 12 transcripts (splice variants) and 205 orthologues. Biased expression in duodenum (RPKM 22.0), small intestine (RPKM 21.4) and 11 other tissues.

功能概要

预测具有磷脂酸结合活性；磷脂酰丝氨酸结合活性；和鞘磷脂磷酸二酯酶活性。预计参与外泌体分泌和鞘磷脂代谢过程的正向调控。预计在几个过程的上游或内部起作用，包括动物器官发育；酶联受体蛋白信号通路；和鞘脂代谢过程。预测位于高尔基体和质膜。预计在细胞质中有活性。肺气肿的生物标志物。 [由基因组资源联盟提供，2022 年 4 月]

Predicted to enable phosphatidic acid binding activity; phosphatidylserine binding activity; and sphingomyelin phosphodiesterase activity. Predicted to be involved in positive regulation of exosomal secretion and sphingomyelin metabolic process. Predicted to act upstream of or within several processes, including animal organ development; Enzyme linked receptor protein signaling pathway; and sphingolipid metabolic process. Predicted to be located in Golgi apparatus and plasma membrane. Predicted to be active in cytoplasm. Biomarker of pulmonary emphysema. [provided by Alliance of Genome Resources, Apr 2022]

SMPD3 基因产物(1)

mRNA	Protein	Name
NM_018667.4	NP_061137.1	sphingomyelin phosphodiesterase 3

基因本体论

分子功能
生物过程

分子功能 GO 注释	逻辑证据	参考文献	来源
enables phosphoric diester hydrolase activity	IDA IDA: 通过直接分析推断	14741383	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	20080539	GOA
enables sphingomyelin phosphodiesterase activity	IDA IDA: 通过直接分析推断	14741383	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in sphingomyelin catabolic process	IDA IDA: 通过直接分析推断	14741383	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

SMPD3 蛋白结构

Exo_endo_phos

0
200
400
600
655 a.a.

蛋白主名

其他名称

sphingomyelin phosphodiesterase 3

nSMase-2

SMPD3 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	SMPD3	Q9NY59	EED	Homo sapiens	O75530	Anti Bait CoIP	20080539

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Pituitary Hormone Deficiency, Combined, 2

Panhypopituitarism	Combined Pituitary Hormone Deficiency
CPHD2	Ateliotic Dwarfism With Hypogonadism
Pituitary Dwarfism Iii	Hanhart Dwarfism
Simmond'S Disease	Simmonds' Disease
Cphd	Pituitary Hormone Deficiency, Combined
Hormone Deficiency, Pituitary, Combined, Type 2	Pituitary Dwarfism Type 3
Sheehan Syndrome

Dentinogenesis Imperfecta

Hereditary Opalescent Dentin	Dentinogenesis Imperfecta Without Osteogenesis Imperfecta
Dgi	Capdepont Teeth
Dgi Without Oi	Di
Non-Syndromic Dgi	Non-Syndromic Dentinogenesis Imperfecta
Opalescent Teeth Without Oi	Opalescent Teeth Without Osteogenesis Imperfecta
Opalescent Dentin

Isolated Growth Hormone Deficiency, Type Ia

Ighd Ia	Primordial Dwarfism
Isolated Growth Hormone Deficiency Type Ia	Sexual Ateleiotic Dwarfism
Pituitary Dwarfism I	IGHD1A
Illig-Type Growth Hormone Deficiency	Growth Hormone Deficiency, Isolated, Type Ia
Congenital Ighd Type Ia	Congenital Isolated Gh Deficiency Type Ia
Congenital Isolated Growth Hormone Deficiency Type Ia	Pituitary Dwarfism 1
Growth Hormone Deficiency, Isolated, Autosomal Recessive	Autosomal Recessive Isolated Growth Hormone Deficiency
Isolated Growth Hormone Deficiency Type 1a	Congenital Ighd
Congenital Isolated Gh Deficiency	Congenital Isolated Growth Hormone Deficiency
Growth Hormone Deficiency, Isolated Autosomal Recessive	Illig Type Growth Hormone Deficiency
Non-Acquired Isolated Growth Hormone Deficiency	Growth Hormone Deficiency, Isolated, 1a
Growth Hormone Deficiency Isolated Autosomal Recessive	Dwarfism, Primordial
Dwarfism

Niemann-Pick Disease

Sphingomyelin/Cholesterol Lipidosis	Niemann-Pick Diseases
Lipoid Histiocytosis	Sphingomyelin Lipidosis
Sphingomyelinase Deficiency Disease	Lipid Histiocytosis
Neuronal Cholesterol Lipidosis	Neuronal Lipidosis
Npd	Sphingomyelinase Deficiency
Niemann-Pick Disease, Type A

Brittle Bone Disorder

Osteogenesis Imperfecta	Brittle Bone Disease
Fragilitas Ossium	Osteopsathyrosis
Lobstein Disease	Oi
Vrolik Disease	Lobstein'S Disease
Lobstein'S Syndrome	Vrolik'S Disease
Porak And Durante Disease	Glass Bone Disease
Osteogenesis Imperfecta, Dominant Perinatal Lethal	Osteogenesis Imperfecta, Recessive Perinatal Lethal
Brittle Bone Syndrome	Oi - [Osteogenesis Imperfecta]
Ossium Fragility	Osteitis Fragilitans
Bony Fragility	Blue Sclera With Fragility Of Bone And Deafness
White Blue Sclera - Fragility Of Bone - Deafness

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS13449	SMPD3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	SMPD3	VGNC	VGNC:35031
Canis familiaris	SMPD3	VGNC	VGNC:46571
Macaca mulatta	SMPD3	VGNC	VGNC:77701
Rattus norvegicus	SMPD3	RGD	RGD:619754
Mus musculus	SMPD3	MGD	MGI:1927578
Felis catus	SMPD3	VGNC	VGNC:65503

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

SMPD3 - sphingomyelin phosphodiesterase 3 Gene

关于 SMPD3

功能概要

SMPD3 基因产物(1)

SMPD3 蛋白结构

SMPD3 蛋白互作信息

关联疾病

直系同源

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SMPD3 - sphingomyelin phosphodiesterase 3 Gene

关于 SMPD3

功能概要

SMPD3 基因产物(1)

SMPD3 蛋白结构

SMPD3 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z