ACER2 - alkaline ceramidase 2 Gene

中文名称：碱性神经酰胺酶 2

种属: Homo sapiens

同用名: ASAH3L; ALKCDase2

基因 ID: 340485 | 基因类型: protein coding

关于 ACER2

Cytogenetic location: 9p22.1 Genomic coordinates (GRCh38): 9:19,409,009-19,452,505 (from NCBI)

This gene has 1 transcript (splice variant), 212 orthologues and 2 paralogues. Biased expression in stomach (RPKM 29.1), urinary bladder (RPKM 17.8) and 8 other tissues.

功能概要

鞘脂代谢物 1-磷酸鞘氨醇可促进细胞增殖和存活，而其前体鞘氨醇则具有相反的作用。神经酰胺酶 ACER2 水解非常长链的神经酰胺以产生鞘氨醇 (Xu 等人，2006 [PubMed 16940153]) 。[OMIM 提供，2010 年 7 月]

The sphingolipid metabolite sphingosine-1-phosphate promotes cell proliferation and survival, whereas its precursor, sphingosine, has the opposite effect. The Ceramidase ACER2 hydrolyzes very long chain ceramides to generate sphingosine (Xu et al., 2006 [PubMed 16940153]).[supplied by OMIM, Jul 2010]

ACER2 基因产物(1)

mRNA	Protein	Name
NM_001010887.3	NP_001010887.2	alkaline ceramidase 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 N-acylsphingosine amidohydrolase activity	IDA IDA: 通过直接分析推断	16940153	GOA
enables N-acylsphingosine amidohydrolase activity	IMP IMP: 通过突变表型推断	20207939	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	32296183	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in DNA damage response	IDA IDA: 通过直接分析推断	26943039	GOA
involved in DNA damage response, signal transduction by p53 class mediator	IMP IMP: 通过突变表型推断	28294157	GOA
involved in activation of cysteine-type endopeptidase activity involved in apoptotic process	IMP IMP: 通过突变表型推断	20628055	GOA
involved in cellular response to xenobiotic stimulus	IEP IEP: 通过表达模式推断	20628055	GOA
involved in ceramide catabolic process	IMP IMP: 通过突变表型推断	16940153	GOA
involved in negative regulation of cell adhesion mediated by integrin	IDA IDA: 通过直接分析推断	18945876	GOA
involved in negative regulation of cell-matrix adhesion	IDA IDA: 通过直接分析推断	18945876	GOA
involved in positive regulation of cell population proliferation	IDA IDA: 通过直接分析推断	16940153	GOA
involved in regulation of apoptotic process	IMP IMP: 通过突变表型推断	26943039	GOA
involved in regulation of autophagy	IMP IMP: 通过突变表型推断	28294157	GOA
involved in regulation of protein glycosylation	IMP IMP: 通过突变表型推断	20089856	GOA
involved in response to retinoic acid	IDA IDA: 通过直接分析推断	18945876	GOA
involved in sphingosine biosynthetic process	IDA IDA: 通过直接分析推断	16940153	GOA
involved in sphingosine biosynthetic process	IMP IMP: 通过突变表型推断	20207939	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	16940153	GOA
located in Golgi membrane	IDA IDA: 通过直接分析推断	20089856	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

ACER2 蛋白结构

Ceramidase

0
100
200
275 a.a.

蛋白主名

其他名称

alkaline ceramidase 2

alkCDase 2

关联疾病

疾病名称

别名

Farber Lipogranulomatosis

Farber Disease	Acid Ceramidase Deficiency
Ceramidase Deficiency	Ac Deficiency
N-Laurylsphingosine Deacylase Deficiency	Farber'S Disease
FRBRL	Farber'S Lipogranulomatosis
Acylsphingosine Deacylase Deficiency	Farber-Uzman Syndrome
Acy

Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy

Jankovic-Rivera Syndrome	SMAPME
Sma-Pme	Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Hereditary Myoclonus-Progressive Distal Muscular Atrophy Syndrome	Hereditary Myoclonus With Progressive Distal Muscular Atrophy
Jankovic Rivera Syndrome	Myoclonus, Hereditary, With Progressive Distal Muscular Atrophy
Myoclonus Hereditary Progressive Distal Muscular Atrophy	Atrophy, Muscular, Spinal, With Progressive Myoclonic Epilepsy

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

Approval

生物活性分子 (4)

目录号	产品名	纯度	是否罕见病
HY-13771	Ursodeoxycholic acid	≥98.0%	否
HY-B0260	Methylprednisolone	99.75%	是
HY-110066	(Z)-Guggulsterone	99.30%	否
HY-12404	Diminazene aceturate	99.16%	否

抗体抑制剂 (2)

目录号	产品名	作用方式	纯度	是否罕见病
HY-P99346	Regdanvimab	Inhibitor	95.00%	否
HY-P9801	Anti-Spike-RBD mAb		/	否

Clinical Phase

生物活性分子 (1)

目录号	产品名	作用方式	纯度	Phase
HY-19414	MLN-4760	Inhibitor	99.93%	Phase 2

Pre-clinical Phase

生物活性分子 (45)

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-14393	Emodin	Inhibitor	99.20%	是
HY-N0639	Punicalin		99.89%	否
HY-15275	BMS-265246	Inhibitor	98.92%	否
HY-P2536	Mca-Ala-Pro-Lys(Dnp)-OH		99.80%	否
HY-122445	Resorcinolnaphthalein	Activator	99.87%	否
HY-100450	BML-111	Inhibitor	≥98.0%	否
HY-P2222A	DX600 TFA	Inhibitor	99.94%	否
HY-B0260R	Methylprednisolone (Standard)		99.67%	否
HY-P2222	DX600	Inhibitor	99.93%	否
HY-19414A	(R)-MLN-4760	Inhibitor	99.51%	否
HY-D1270	Direct Violet 1	Inhibitor	/	否
HY-113478S	Ursodeoxycholic acid-2,2,4,4-d4		99.52%	否
HY-126419	Kobophenol A	Inhibitor	99.90%	否
HY-P2616A	Mca-YVADAP-Lys(Dnp)-OH TFA	Chemical	98.85%	否
HY-B0260S3	Methylprednisolone-d7		99.73%	否
HY-157154	MAT-POS-e194df51-1	Inhibitor	/	否
HY-RS00001	ACE2 Rat Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-138067	SSAA09E2	Inhibitor	98.37%	否
HY-P3141	STIEEQAKTFLDKFNHEAEDLFYQSSLASWN		95.28%	否
HY-P3142	NMNNAGDKWSAFLKEQSTLAQMYPLQEIQNLTVKLQLQALQQ		96.51%	否
HY-163943	UNI418	Inhibitor	/	否
HY-14393S	Emodin-d4	Inhibitor	/	否
HY-121068	Bisoxatin	Inhibitor	/	否
HY-14393R	Emodin (Standard)	Inhibitor	/	否
HY-149373	Garcinone B	Inhibitor	/	否
HY-149767	CMX990	Inhibitor	/	否
HY-156441	SARS-CoV-2-IN-65	Inhibitor	/	否
HY-156862	(+)-Chloroquine		/	否
HY-157966	SARS-CoV-2 3CLpro-IN-23	Inhibitor	/	否
HY-158073	ML2006a4	Inhibitor	/	否
HY-161261	SARS-CoV-2-IN-81	Inhibitor	/	否
HY-168267	XH161-180	Inhibitor	/	否
HY-B0260S	Methylprednisolone-d3		/	否
HY-B0260S2	Methylprednisolone-d4		/	否
HY-B0260S4	Methylprednisolone-d2		/	否
HY-P2616	Mca-YVADAP-Lys(Dnp)-OH	Chemical	/	否
HY-P3258	SP-10		/	否
HY-P4546	Abz-Ser-Pro-3-nitro-Tyr		/	否
HY-P5827	SBP1 peptide		/	否
HY-RS00152	ACE2 Human Pre-designed siRNA Set A		/	否
HY-RS00154	ACER2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-161070	Antiviral agent 46	Inhibitor	/	否
HY-162550	Jobosic acid	Inhibitor	/	否
HY-162598	CET-1	Inhibitor	/	否
HY-W342283	Diminazene		/	否

抗体抑制剂 (1)

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-P990731	Canvircept		/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	ACER2	VGNC	VGNC:59507
Rattus norvegicus	ACER2	RGD	RGD:1304629
Canis familiaris	ACER2	VGNC	VGNC:37505
Bos taurus	ACER2	VGNC	VGNC:25537
Mus musculus	ACER2	MGD	MGI:1920932
Macaca mulatta	ACER2	VGNC	VGNC:103235

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