ACER2 - alkaline ceramidase 2 Gene

Also Known as ASAH3L; ALKCDase2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 340485

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
Molecular Function GO Annotation Evidence References 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 References 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 References 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

Ceramidase: Ceramidase (10 - 261)

  • 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

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
Others ACER2 NCBI