2. Gene
  3. CERS2 - ceramide synthase 2 Gene

CERS2 - ceramide synthase 2 Gene

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

中文名称：神经酰胺合酶 2

种属: Homo sapiens

同用名: L3; LASS2; SP260; TMSG1

基因 ID: 29956 | 基因类型: protein coding

关于 CERS2

Cytogenetic location: 1q21.3 Genomic coordinates (GRCh38): 1:150,965,186-150,974,835 (from NCBI)

This gene has 14 transcripts (splice variants), 275 orthologues and 5 paralogues. Ubiquitous expression in liver (RPKM 113.9), adrenal (RPKM 85.4) and 25 other tissues.

功能概要

该基因编码的蛋白质与酵母长寿保证基因 1 具有序列相似性。酵母中相关基因的突变或过表达已被证明会改变酵母寿命。人类蛋白质可能在细胞生长的调节中发挥作用。已经描述了编码相同蛋白质的可变剪接转录物变体。[RefSeq 提供，2008 年 7 月]

This gene encodes a protein that has sequence similarity to yeast longevity assurance gene 1. Mutation or overexpression of the related gene in yeast has been shown to alter yeast lifespan. The human protein may play a role in the regulation of cell growth. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]

CERS2 基因产物(2)

mRNA Protein Name
NM_022075.5 NP_071358.1 ceramide synthase 2
NM_181746.4 NP_859530.1 ceramide synthase 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 protein binding IPI
IPI: 通过物理相互作用推断
11543633 GOA
enables sphingosine N-acyltransferase activity IDA
IDA: 通过直接分析推断
17977534 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in ceramide biosynthetic process IDA
IDA: 通过直接分析推断
17977534 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
18165233 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

CERS2 蛋白结构

Homeobox

Homeobox: Homeobox domain (82 - 126)

TRAM_LAG1_CLN8

TRAM_LAG1_CLN8: TLC domain (132 - 325)

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

ceramide synthase 2

LAG1 homolog, ceramide synthase 2

CERS2 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
CERS2 Q96G23 ASGR1 Homo sapiens P07306
Y2H
11543633
种属内
CERS2 Q96G23 ASGR1 Homo sapiens P07306
Pull Down
11543633
种属内
CERS2 Q96G23 ASGR2 Homo sapiens P07307
Y2H
21988832
种属内
CERS2 Q96G23 ASGR2 Homo sapiens P07307
Y2H
11543633
种属内
CERS2 Q96G23 ASGR2 Homo sapiens P07307
Pull Down
11543633
种属内
CERS2 Q96G23 SLC22A1 Homo sapiens O15245
Y2H
11543633
种属内
CERS2 Q96G23 ATP6V0C Homo sapiens P27449
Pull Down
11543633
种属内
CERS2 Q96G23 ATP6V0C Homo sapiens P27449
Y2H
21988832
种属内
CERS2 Q96G23 ATP6V0C Homo sapiens P27449
Y2H
11543633
种属内
CERS2 Q96G23 IER3IP1 Homo sapiens Q9Y5U9
Validated Y2H
32296183
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
Myoclonic Epilepsy, Juvenile 3

Myoclonic Epilepsy, Juvenile, Susceptibility To, 3

EJM3

Epilepsy, Juvenile Myoclonic 3

Juvenile Myoclonic Epilepsy 3
Hereditary Sensory And Autonomic Neuropathy Type 1

Hereditary Sensory And Autonomic Neuropathy Type I

Hereditary Sensory Neuropathy-Deafness-Dementia Syndrome

Hsan1e

Hsan1

Dnmt1-Related Dementia, Deafness, And Sensory Neuropathy

Hsn1e

Hsnie

Hereditary Sensory Neuropathy Type Ie

Hereditary Sensory Neuropathy-Sensorineural Hearing Loss-Dementia Syndrome

Hereditary Sensory And Autonomic Neuropathy Type Ie

Hereditary Sensory And Autonomic Neuropathy Type 1e

Hereditary Sensory Neuropathy With Hearing Loss And Dementia

Dnmt1-Complex Disorder

Hereditary Sensory And Autonomic Neuropathy Type 1 With Dementia And Hearing Loss

Hsn Ie

Hereditary Sensory Autonomic Neuropathy, Type 1

Hsan1- [Hereditary Sensory And Autonomic Neuropathy Type I]
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 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-133490A ST1074 Inducer / 否
HY-RS02537 CERS2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta CERS2 VGNC VGNC:70946
Felis catus CERS2 VGNC VGNC:60792
Mus musculus CERS2 MGD MGI:1924143
Bos taurus CERS2 VGNC VGNC:27224
Rattus norvegicus CERS2 RGD RGD:1310059
Canis familiaris CERS2 VGNC VGNC:39148
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