ACYP2 (acylphosphatase 2)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
98
Gene name Gene Name - the full gene name approved by the HGNC.
Acylphosphatase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ACYP2
Synonyms (NCBI Gene) Gene synonyms aliases
ACYM, ACYP
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p16.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
102595 180 ENSG00000170634
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 		 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Osteomyelitis chronic osteomyelitis N/A N/A ClinVar
Schizophrenia Schizophrenia N/A N/A GWAS
Show/Hide Text Mining Associations (19)
Associations from Text Mining Disease 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