ACER2 - alkaline ceramidase 2 Gene

Homo sapiens

Also known as ASAH3L; ALKCDase2

Gene ID: 340485 | Gene type: protein coding

About 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.

Summary

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 Products(1)

mRNA	Protein	Name
NM_001010887.3	NP_001010887.2	alkaline ceramidase 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables N-acylsphingosine amidohydrolase activity	IDA IDA: Inferred from direct assay	16940153	GOA
enables N-acylsphingosine amidohydrolase activity	IMP IMP: Inferred from mutant phenotype	20207939	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in DNA damage response	IDA IDA: Inferred from direct assay	26943039	GOA
involved in DNA damage response, signal transduction by p53 class mediator	IMP IMP: Inferred from mutant phenotype	28294157	GOA
involved in activation of cysteine-type endopeptidase activity involved in apoptotic process	IMP IMP: Inferred from mutant phenotype	20628055	GOA
involved in cellular response to xenobiotic stimulus	IEP IEP: Inferred from expression pattern	20628055	GOA
involved in ceramide catabolic process	IMP IMP: Inferred from mutant phenotype	16940153	GOA
involved in negative regulation of cell adhesion mediated by integrin	IDA IDA: Inferred from direct assay	18945876	GOA
involved in negative regulation of cell-matrix adhesion	IDA IDA: Inferred from direct assay	18945876	GOA
involved in positive regulation of cell population proliferation	IDA IDA: Inferred from direct assay	16940153	GOA
involved in regulation of apoptotic process	IMP IMP: Inferred from mutant phenotype	26943039	GOA
involved in regulation of autophagy	IMP IMP: Inferred from mutant phenotype	28294157	GOA
involved in regulation of protein glycosylation	IMP IMP: Inferred from mutant phenotype	20089856	GOA
involved in response to retinoic acid	IDA IDA: Inferred from direct assay	18945876	GOA
involved in sphingosine biosynthetic process	IDA IDA: Inferred from direct assay	16940153	GOA
involved in sphingosine biosynthetic process	IMP IMP: Inferred from mutant phenotype	20207939	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	16940153	GOA
located in Golgi membrane	IDA IDA: Inferred from direct assay	20089856	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ACER2 Protein Structure

Ceramidase

0
100
200
275 a.a.

Protein Preferred Names

Protein Names

alkaline ceramidase 2

alkCDase 2

Related Diseases

Diseases

Alias

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]

Diseases	Alias
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

Related Agents

Approval

Bioactive Molecules (3)

Cat. No.	Product Name	Purity	Rare Diseases
HY-13771	Ursodeoxycholic acid	≥98.0%	Unkown
HY-B0260	Methylprednisolone	99.75%	Yes
HY-12404	Diminazene aceturate	99.16%	Unkown

Inhibitory Antibodies (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P99346	Regdanvimab	Inhibitor	95.00%	Unkown
HY-P9801	Anti-Spike-RBD mAb		/	Unkown

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-19414	MLN-4760	Inhibitor	99.93%	Phase 2

Pre-clinical Phase

Bioactive Molecules (42)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-14393	Emodin	Inhibitor	98.95%	Yes
HY-110066	(Z)-Guggulsterone		99.30%	Unkown
HY-N0639	Punicalin		99.89%	Unkown
HY-15275	BMS-265246	Inhibitor	98.92%	Unkown
HY-P2536	Mca-Ala-Pro-Lys(Dnp)-OH		99.80%	Unkown
HY-122445	Resorcinolnaphthalein	Activator	99.87%	Unkown
HY-N2116	Ginkgolic acid C17:1		99.90%	Unkown
HY-100450	BML-111	Inhibitor	≥98.0%	Unkown
HY-P2222A	DX600 TFA	Inhibitor	99.94%	Unkown
HY-B0260R	Methylprednisolone (Standard)		99.67%	Unkown
HY-P2222	DX600	Inhibitor	99.93%	Unkown
HY-19414A	(R)-MLN-4760	Inhibitor	99.51%	Unkown
HY-D1270	Direct Violet 1	Inhibitor	/	Unkown
HY-P2616A	Mca-YVADAP-Lys(Dnp)-OH TFA	Chemical	98.85%	Unkown
HY-126419	Kobophenol A	Inhibitor	99.90%	Unkown
HY-157154	MAT-POS-e194df51-1	Inhibitor	98.45%	Unkown
HY-RS00001	ACE2 Rat Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-138067	SSAA09E2	Inhibitor	98.37%	Unkown
HY-P3141	STIEEQAKTFLDKFNHEAEDLFYQSSLASWN		95.28%	Unkown
HY-P3142	NMNNAGDKWSAFLKEQSTLAQMYPLQEIQNLTVKLQLQALQQ		96.51%	Unkown
HY-163943	UNI418	Inhibitor	/	Unkown
HY-121068	Bisoxatin	Inhibitor	/	Unkown
HY-121421	Diniprofylline	Inhibitor	/	Unkown
HY-14393R	Emodin (Standard)	Inhibitor	/	Unkown
HY-149373	Garcinone B	Inhibitor	/	Unkown
HY-149767	CMX990	Inhibitor	/	Unkown
HY-156441	SARS-CoV-2-IN-65	Inhibitor	/	Unkown
HY-156862	(+)-Chloroquine	Activator	/	Unkown
HY-157966	SARS-CoV-2 3CLpro-IN-23	Inhibitor	/	Unkown
HY-158073	ML2006a4	Inhibitor	/	Unkown
HY-161261	SARS-CoV-2-IN-81	Inhibitor	/	Unkown
HY-168267	XH161-180	Inhibitor	/	Unkown
HY-P2616	Mca-YVADAP-Lys(Dnp)-OH	Chemical	/	Unkown
HY-P3258	SP-10		/	Unkown
HY-P4546	Abz-Ser-Pro-3-nitro-Tyr		/	Unkown
HY-P5827	SBP1 peptide		/	Unkown
HY-RS00152	ACE2 Human Pre-designed siRNA Set A		/	Unkown
HY-RS00154	ACER2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-161070	Antiviral agent 46	Inhibitor	/	Unkown
HY-162550	Jobosic acid	Inhibitor	/	Unkown
HY-162598	CET-1	Inhibitor	/	Unkown
HY-W342283	Diminazene		/	Unkown

Inhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P990731	Canvircept		/	Unkown

Orthologs Information

Species	Symbol	Source	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

Name
Email *

	Sorry, but the email address you supplied was invalid.