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ASAH2 - N-acylsphingosine amidohydrolase 2 Gene

Also Known as HNAC1; BCDase; LCDase; NCDase; N-CDase

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 56624

About ASAH2

Cytogenetic location: 10q11.23 Genomic coordinates (GRCh38): 10:50,184,861-50,251,516 (from NCBI)

This gene has 6 transcripts (splice variants), 202 orthologues and 1 paralogue. Biased expression in duodenum (RPKM 35.9), small intestine (RPKM 31.0) and 1 other tissue.

Summary

Ceramidases (EC 3.5.1.23), such as ASAH2, catalyze hydrolysis of the N-acyl linkage of ceramide, a second messenger in a variety of cellular events, to produce sphingosine. Sphingosine exerts both mitogenic and apoptosis-inducing activities, and its phosphorylated form functions as an intra- and intercellular second messenger (see MIM 603730) (Mitsutake et al., 2001 [PubMed 11328816]).[supplied by OMIM, Mar 2008]

ASAH2 Products (2)

mRNA	Protein	Name
NM_001143974.3	NP_001137446.1	neutral ceramidase isoform b
NM_019893.4	NP_063946.2	neutral ceramidase isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables N-acylsphingosine amidohydrolase activity	IDA IDA: Inferred from direct assay	16229686	GOA
enables N-acylsphingosine amidohydrolase activity	IMP IMP: Inferred from mutant phenotype	10781606	GOA
enables calcium ion binding	IDA IDA: Inferred from direct assay	26190575	GOA
enables zinc ion binding	IDA IDA: Inferred from direct assay	26190575	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cellular response to cytokine stimulus	IDA IDA: Inferred from direct assay	24798654	GOA
involved in ceramide biosynthetic process	IDA IDA: Inferred from direct assay	17475390	GOA
involved in ceramide biosynthetic process	IMP IMP: Inferred from mutant phenotype	11278489	GOA
involved in ceramide catabolic process	IDA IDA: Inferred from direct assay	16229686	GOA
involved in ceramide catabolic process	IMP IMP: Inferred from mutant phenotype	10781606	GOA
involved in ceramide metabolic process	IDA IDA: Inferred from direct assay	26190575	GOA
involved in negative regulation of apoptotic signaling pathway	IMP IMP: Inferred from mutant phenotype	15946935	GOA
involved in regulation of mitotic cell cycle	IMP IMP: Inferred from mutant phenotype	19345744	GOA
involved in sphingosine biosynthetic process	IMP IMP: Inferred from mutant phenotype	30154232	GOA
involved in sphingosine metabolic process	IDA IDA: Inferred from direct assay	16229686	GOA
involved in sphingosine metabolic process	IMP IMP: Inferred from mutant phenotype	10781606	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	30154232	GOA
located in extracellular exosome	IDA IDA: Inferred from direct assay	24798654	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	10781606	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	30154232	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

ASAH2 Protein Structure

Ceramidase_alk

0
200
400
600
780 a.a.

Protein Preferred Names	Protein Names
neutral ceramidase	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2

Related Diseases

Diseases	Alias
Sphingolipidosis	Sphingolipidoses
Lipogranulomatosis	Erdheim-Chester Disease Lipogranuloma
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
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
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
Gaucher'S Disease	Gaucher Disease Kerasin Thesaurismosis Glucocerebrosidase Deficiency Glucosylceramidase Deficiency Cerebroside Lipidosis Syndrome Acid Beta-Glucosidase Deficiency Glucosylceramide Beta-Glucosidase Deficiency Acute Cerebral Gaucher Disease Gaucher Splenomegaly Glucocerebrosidosis Glucosyl Cerebroside Lipidosis Kerasin Lipoidosis Lipoid Histiocytosis Glocucerebrosidase Deficiency Sphingolipidosis 1 Gaucher Syndrome Gauchers Disease Gd Glucosylceramide Lipidosis Kerasin Histiocytosis Gaucher Disease, Type 1 Gaucher Disease, Type 2
Niemann-Pick Disease, Type C1	Niemann-Pick Disease, Type C NPC1 Niemann-Pick Disease, Type D Niemann-Pick Disease Type C1 Niemann-Pick Disease With Cholesterol Esterification Block Niemann-Pick Disease, Subacute Juvenile Form Neurovisceral Storage Disease With Vertical Supranuclear Ophthalmoplegia Npc Niemann-Pick Disease, Chronic Neuronopathic Form Niemann-Pick Disease Without Sphingomyelinase Deficiency Niemann-Pick Disease Type C Niemann-Pick Disease Type D Niemann-Pick C1 Disease Niemann-Pick Disease C1 Niemann-Pick Disease Chronic Neuronopathic Form Niemann-Pick Disease Nova Scotian Type Niemann-Pick Disease Subacute Juvenile Form Niemann-Pick Disease Type Ii Niemann-Picks Disease Type C
Dermatitis, Atopic, 2	Atopic Dermatitis 2 ATOD2 Dermatitis, Atopic, Susceptibility To, 2 Dermatitis, Atopic, 2, Susceptibility To Dermatitis, Atopic 2 Dermatitis Atopic 2 Atopic Eczema Dermatitis, Atopic, Type 2 Dermatitis, Atopic
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]
Intracranial Berry Aneurysm	Familial Aneurysmal Subarachnoid Hemorrhage Familial Berry Aneurysm Familial Intracranial Saccular Aneurysm Saccular Cerebral Aneurysm Aneurysm, Intracranial Berry Aneurysmal Subarachnoid Hemorrhage Aneurysm, Intracranial Berry, 1

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

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01054	ASAH2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19409	Asah2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25901	Asah2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	ASAH2	VGNC	VGNC:97360
Mus musculus	ASAH2	MGD	MGI:1859310
Macaca mulatta	ASAH2	VGNC	VGNC:97735
Rattus norvegicus	ASAH2	RGD	RGD:69410
Others	ASAH2	NCBI