2. Gene
  3. SMPD4 - sphingomyelin phosphodiesterase 4 Gene

SMPD4 - sphingomyelin phosphodiesterase 4 Gene

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

中文名称：鞘磷脂磷酸二酯酶 4

种属: Homo sapiens

同用名: SKNY; NET13; NEDMABA; NEDMEBA; NSMASE3; NSMASE-3

基因 ID: 55627 | 基因类型: protein coding

关于 SMPD4

Cytogenetic location: 2q21.1 Genomic coordinates (GRCh38): 2:130,151,392-130,181,757 (from NCBI)

This gene has 27 transcripts (splice variants), 206 orthologues and is associated with 2 phenotypes. Ubiquitous expression in bone marrow (RPKM 16.4), testis (RPKM 14.6) and 25 other tissues.

功能概要

该基因编码的蛋白质是一种鞘磷脂酶，可催化膜鞘磷脂水解形成磷酸胆碱和神经酰胺。该基因被 DNA 损伤、细胞应激和肿瘤坏死因子激活，但被野生型 p53 下调。编码的蛋白质定位于内质网和高尔基网络。[RefSeq 提供，2017 年 3 月]

The protein encoded by this gene is a sphingomyelinase that catalyzes the hydrolysis of membrane sphingomyelin to form phosphorylcholine and ceramide. This gene is activated by DNA damage, cellular stress, and tumor necrosis factor, but it is downregulated by wild-type p53. The encoded protein localizes to the endoplasmic reticulum and Golgi network. [provided by RefSeq, Mar 2017]

SMPD4 基因产物(3)

mRNA Protein Name
NM_001171083.2 NP_001164554.1 sphingomyelin phosphodiesterase 4 isoform 3
NM_017751.4 NP_060221.2 sphingomyelin phosphodiesterase 4 isoform 1
NM_017951.5 NP_060421.3 sphingomyelin phosphodiesterase 4 isoform 2
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 sphingomyelin phosphodiesterase D activity IDA
IDA: 通过直接分析推断
16517606 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cellular response to tumor necrosis factor IDA
IDA: 通过直接分析推断
16517606 GOA
involved in ceramide biosynthetic process IDA
IDA: 通过直接分析推断
16517606 GOA
involved in endoplasmic reticulum organization IMP
IMP: 通过突变表型推断
31495489 GOA
involved in glycerophospholipid catabolic process IDA
IDA: 通过直接分析推断
16517606 GOA
involved in sphingomyelin catabolic process IDA
IDA: 通过直接分析推断
16517606 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
16517606 GOA
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
16517606 GOA
located in nuclear outer membrane IDA
IDA: 通过直接分析推断
31495489 GOA
located in trans-Golgi network IDA
IDA: 通过直接分析推断
16517606 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

SMPD4 蛋白结构

mit_SMPDase

mit_SMPDase: Mitochondrial-associated sphingomyelin phosphodiesterase (47 - 811)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 866 a.a.
蛋白主名 其他名称

sphingomyelin phosphodiesterase 4

neutral sphingomyelinase 3

关联疾病

疾病名称 别名
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies

NEDMABA
Microcephaly With Simplified Gyral Pattern
Cerebellar Hypoplasia
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
Multiple Pterygium Syndrome, Escobar Variant

Multiple Pterygium Syndrome

Pterygium

Escobar Syndrome

EVMPS

Pterygium Syndrome

Autosomal Recessive Multiple Pterygium Syndrome

Pterygium Colli Syndrome

Pterygium Universale

Autosomal Recessive Non-Lethal Multiple Pterygium Syndrome

Escobar Variant Multiple Pterygium Syndrome

Multiple Pterygium Syndrome, Nonlethal Type

Surfer'S Eye

Multiple Pterygium Syndrome Escobar Type

Multiple Pterygium Syndrome Nonlethal Type

Familial Pterygium Syndrome

Pterygium Colli

Multiple Pterygium Syndrome, Non-Lethal Type

Nonlethal Type Multiple Pterygium Syndrome

Pterygium Syndrome, Multiple, Escobar Type

Pterygium Of Eye

Web Eye
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
Distal Arthrogryposis

Arthrogryposis Multiplex Congenita

Arthrogryposis

Congenital Multiple Arthrogryposis

Congenital Arthromyodysplasia

Fibrous Ankylosis Of Multiple Joints

Guerin-Stern Syndrome

Guérin-Stern Syndrome

Myodystrophia Fetalis Deformans

Otto Syndrome

Rocher-Sheldon Syndrome

Rossi Syndrome

Amc

Multiple Congenital Arthrogryposis

Arthrogryposis Syndrome

Arthrogryposis, Distal

Distal Arthrogryposis Syndrome

Freeman-Sheldon Syndrome

Arthrogryposis, Distal, Type 2b

Congenital Multiplex Arthrogryposis

Amyoplasia Congenita

Congenital Amyoplasia

Amc - [Arthrogryposis Multiplex Congenita]
Nanophthalmos

Nanophthalmia
Galloway-Mowat Syndrome

Galloway Mowat Syndrome

Galloway Syndrome

Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type

Microcephaly Nephrosis Syndrome

Microcephaly, Hiatal Hernia, And Nephrotic Syndrome

Nephrosis Neuronal Dysmigration Syndrome

Microcephaly-Hiatus Hernia-Nephrotic Syndrome

Nephrosis-Neuronal Dysmigration Syndrome
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-RS13450 SMPD4 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus SMPD4 RGD RGD:1310674
Bos taurus SMPD4 VGNC VGNC:35032
Macaca mulatta SMPD4 VGNC VGNC:97831
Mus musculus SMPD4 MGD MGI:1924876
Canis familiaris SMPD4 VGNC VGNC:46572
Felis catus SMPD4 VGNC VGNC:80489
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