Gene Gene information from NCBI Gene database.
Entrez ID 340485
Gene name Alkaline ceramidase 2
Gene symbol ACER2
Synonyms (NCBI Gene)
ALKCDase2ASAH3L
Chromosome 9
Chromosome location 9p22.1
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 [
miRNA miRNA information provided by mirtarbase database.
243
miRTarBase ID miRNA Experiments Reference
MIRT639523 hsa-miR-4668-5p HITS-CLIP 23824327
MIRT639522 hsa-miR-27a-5p HITS-CLIP 23824327
MIRT639521 hsa-miR-3613-3p HITS-CLIP 23824327
MIRT503209 hsa-miR-513b-3p PAR-CLIP 22012620
MIRT503208 hsa-miR-4700-3p PAR-CLIP 22012620
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
36
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IBA
GO:0000139 Component Golgi membrane IDA 20089856
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS
GO:0001953 Process Negative regulation of cell-matrix adhesion IDA 18945876
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613492 23675 ENSG00000177076
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5QJU3
Protein name Alkaline ceramidase 2 (AlkCDase 2) (Alkaline CDase 2) (haCER2) (EC 3.5.1.-) (EC 3.5.1.23) (Acylsphingosine deacylase 3-like) (N-acylsphingosine amidohydrolase 3-like)
Protein function Golgi ceramidase that catalyzes the hydrolysis of ceramides into sphingoid bases like sphingosine and free fatty acids at alkaline pH (PubMed:16940153, PubMed:18945876, PubMed:20089856, PubMed:20207939). Ceramides, sphingosine, and its phosphory
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05875 Ceramidase 6 261 Ceramidase Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in placenta. {ECO:0000269|PubMed:16940153}.
Sequence
Sequence length 275
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Sphingolipid metabolism
Metabolic pathways
Sphingolipid signaling pathway
  Sphingolipid de novo biosynthesis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Arteriosclerosis Arteriosclerosis BEFREE 31668872
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 31668872
★☆☆☆☆
Found in Text Mining only
Emphysema Emphysema Pubtator 30214182 Inhibit
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 29229990
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 20628055, 29229990
★☆☆☆☆
Found in Text Mining only
Obesity Obesity Pubtator 34555498 Associate
★☆☆☆☆
Found in Text Mining only
Pulmonary Disease Chronic Obstructive Chronic obstructive pulmonary disease Pubtator 30214182 Associate
★☆☆☆☆
Found in Text Mining only