1. Gene
  2. ACER2 - alkaline ceramidase 2 Gene

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

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