ACYP2 (acylphosphatase 2)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 98
Gene name Acylphosphatase 2
Gene symbol ACYP2
Synonyms (NCBI Gene)
ACYMACYP
Chromosome 2
Chromosome location 2p16.2
Summary Acylphosphatase can hydrolyze the phosphoenzyme intermediate of different membrane pumps, particularly the Ca2+/Mg2+-ATPase from sarcoplasmic reticulum of skeletal muscle. Two isoenzymes have been isolated, called muscle acylphosphatase and erythrocyte ac
SNPs SNP information provided by dbSNP.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs1872328 G>A Drug-response Intron variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
miRTarBase ID miRNA Experiments Reference
MIRT1925645 hsa-miR-144 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (8)
GO ID Ontology Definition Evidence Reference
GO:0003998 Function Acylphosphatase activity IBA
GO:0003998 Function Acylphosphatase activity IEA
GO:0003998 Function Acylphosphatase activity TAS 8268218
GO:0005515 Function Protein binding IPI 25416956
GO:0005739 Component Mitochondrion HTP 34800366
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
102595 180 ENSG00000170634
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P14621
Protein name Acylphosphatase-2 (EC 3.6.1.7) (Acylphosphatase, muscle type isozyme) (Acylphosphate phosphohydrolase 2)
Protein function Its physiological role is not yet clear.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00708 Acylphosphatase 10 → 97 Acylphosphatase Domain
Sequence
Sequence length 99
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Pyruvate metabolism
Metabolic pathways 		 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Chronic osteomyelitis association rs11125529 RCV000498162
Show/Hide Text Mining Associations (19)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 27458158, 27894080
Carcinoma Pancreatic Ductal Associate 32312758
Carcinoma Renal Cell Associate 31487124
Carcinoma Squamous Cell Associate 37487414
Cerebral Infarction Associate 33046137
Colorectal Neoplasms Associate 22020760, 28039478, 31070019
Coronary Disease Associate 24904205
Death Sudden Cardiac Associate 21658281
Diabetes Mellitus Type 2 Associate 27863428
Esophageal Neoplasms Associate 28424424