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 acylphosphatase on the basis of their tissue localization. This gene encodes the muscle-type isoform (MT). An increase of the M... See more...

Aliases for ACYP2 Gene

Aliases for ACYP2 Gene

  • Acylphosphatase 2 2 3 5
  • Acylphosphatase, Muscle Type Isozyme 3 4
  • Acylphosphate Phosphohydrolase 2 3 4
  • Acylphosphatase 2, Muscle Type 2 3
  • Acylphosphatase-2 3 4
  • EC 3.6.1.7 4 51
  • ACYP 3 4
  • Testicular Tissue Protein Li 11 3
  • ACYP2 5
  • ACYM 3

External Ids for ACYP2 Gene

Previous GeneCards Identifiers for ACYP2 Gene

  • GC02P054380
  • GC02P054528
  • GC02P054155
  • GC02P054316
  • GC02P054254
  • GC02P054342
  • GC02P054199

Summaries for ACYP2 Gene

Entrez Gene Summary for ACYP2 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 acylphosphatase on the basis of their tissue localization. This gene encodes the muscle-type isoform (MT). An increase of the MT isoform is associated with muscle differentiation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]

GeneCards Summary for ACYP2 Gene

ACYP2 (Acylphosphatase 2) is a Protein Coding gene. Diseases associated with ACYP2 include Polyneuropathy Due To Drug and Drug-Induced Hearing Loss. Among its related pathways are ATP/ITP metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include acylphosphatase activity. An important paralog of this gene is ACYP1.

UniProtKB/Swiss-Prot Summary for ACYP2 Gene

Gene Wiki entry for ACYP2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ACYP2 Gene

Genomics for ACYP2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ACYP2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACYP2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ACYP2

Top Transcription factor binding sites by QIAGEN in the ACYP2 gene promoter:
  • Bach1
  • C/EBPalpha
  • CHOP-10
  • FOXC1
  • FOXF2
  • FOXJ2
  • FOXJ2 (long isoform)
  • NF-E2
  • NF-E2 p45

Genomic Locations for ACYP2 Gene

Genomic Locations for ACYP2 Gene
chr2:53,970,838-54,305,300
(GRCh38/hg38)
Size:
334,463 bases
Orientation:
Plus strand
chr2:54,197,975-54,532,437
(GRCh37/hg19)
Size:
334,463 bases
Orientation:
Plus strand

Genomic View for ACYP2 Gene

Genes around ACYP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACYP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACYP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACYP2 Gene

Proteins for ACYP2 Gene

  • Protein details for ACYP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P14621-ACYP2_HUMAN
    Recommended name:
    Acylphosphatase-2
    Protein Accession:
    P14621

    Protein attributes for ACYP2 Gene

    Size:
    99 amino acids
    Molecular mass:
    11140 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ACYP2 Gene

Selected DME Specific Peptides for ACYP2 Gene

P14621:
  • FSNEKTISKLEYS
  • GTVTGQVQGPE
  • SVDYEVFG

Post-translational modifications for ACYP2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for ACYP2 Gene

Gene Families for ACYP2 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for ACYP2 Gene

Suggested Antigen Peptide Sequences for ACYP2 Gene

GenScript: Design optimal peptide antigens:
  • Acylphosphate phosphohydrolase 2 (ACYP2_HUMAN)
  • Acylphosphatase 2, muscle type, isoform CRA_a (D6W5B6_HUMAN)
  • Acylphosphatase (E9PF46_HUMAN)
  • Acylphosphatase (Q53TK7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P14621

UniProtKB/Swiss-Prot:

ACYP2_HUMAN :
  • Belongs to the acylphosphatase family.
Family:
  • Belongs to the acylphosphatase family.
genes like me logo Genes that share domains with ACYP2: view

Function for ACYP2 Gene

Molecular function for ACYP2 Gene

UniProtKB/Swiss-Prot Function:
Its physiological role is not yet clear.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=an acyl phosphate + H2O = a carboxylate + H(+) + phosphate; Xref=Rhea:RHEA:14965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:29067, ChEBI:CHEBI:43474, ChEBI:CHEBI:59918; EC=3.6.1.7;.

Enzyme Numbers (IUBMB) for ACYP2 Gene

Phenotypes From GWAS Catalog for ACYP2 Gene

Gene Ontology (GO) - Molecular Function for ACYP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003998 acylphosphatase activity IEA,IBA 21873635
GO:0005515 protein binding IPI 25416956
GO:0016787 hydrolase activity IEA --
GO:0042802 identical protein binding IPI 12374855
genes like me logo Genes that share ontologies with ACYP2: view
genes like me logo Genes that share phenotypes with ACYP2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACYP2

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ACYP2 Gene

Localization for ACYP2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ACYP2 gene
Compartment Confidence
nucleus 3
cytosol 2
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for ACYP2 Gene

Pathways & Interactions for ACYP2 Gene

PathCards logo

SuperPathways for ACYP2 Gene

SuperPathway Contained pathways
1 Metabolism
2 Pyruvate metabolism
3 ATP/ITP metabolism
-
genes like me logo Genes that share pathways with ACYP2: view

Pathways by source for ACYP2 Gene

2 KEGG pathways for ACYP2 Gene
1 GeneGo (Thomson Reuters) pathway for ACYP2 Gene
  • ATP/ITP metabolism

Gene Ontology (GO) - Biological Process for ACYP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006796 phosphate-containing compound metabolic process TAS 8268218
genes like me logo Genes that share ontologies with ACYP2: view

No data available for SIGNOR curated interactions for ACYP2 Gene

Drugs & Compounds for ACYP2 Gene

(18) Drugs for ACYP2 Gene - From: DrugBank, PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Potent pro-apoptotic anticancer agent; activates caspase-3, Platinum 3412
acetic acid Approved Pharma Agonist, Full agonist 139
Benzoic acid Approved, Investigational Pharma 11
Palmitic Acid Approved Pharma Agonist, Full agonist 27
Phosphoric acid Approved Pharma 0

(7) Additional Compounds for ACYP2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Arachidic acid
  • Arachidinic acid
  • Arachinsaeure
  • C20:0
  • CH3-[CH2]18-COOH
  • Eicosanoic acid
506-30-9
Benzoyl phosphate
Glyceric acid 1,3-biphosphate
  • 1,3-Biphosphoglycerate
  • 1,3-Biphosphoglyceric acid
  • 1,3-Bis-phosphoglycerate
  • 1,3-Bisphosphoglycerate
  • 1,3-Diphosphateglycerate
1981-49-3
Heptadecanoic acid
  • 17:0
  • C17:0
  • CH3-[CH2]15-COOH
  • Heptadecoic acid
  • Heptadecylic acid
506-12-7
Heptadecanoyl CoA
  • Heptadecanoyl-coenzyme A
  • Heptadecanoate
  • Heptadecanoic acid
  • Heptadecanoic acid CoA
  • Heptadecanoyl coenzyme A
3546-17-6
genes like me logo Genes that share compounds with ACYP2: view

Transcripts for ACYP2 Gene

mRNA/cDNA for ACYP2 Gene

6 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACYP2

Alternative Splicing Database (ASD) splice patterns (SP) for ACYP2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c
SP1: - - - - - -
SP2: - - - - -
SP3: - -
SP4: - -
SP5: - - - - - - -

Relevant External Links for ACYP2 Gene

GeneLoc Exon Structure for
ACYP2

Expression for ACYP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ACYP2 Gene

mRNA differential expression in normal tissues according to GTEx for ACYP2 Gene

This gene is overexpressed in Muscle - Skeletal (x4.3).

Protein differential expression in normal tissues from HIPED for ACYP2 Gene

This gene is overexpressed in Spinal cord (17.2), Nasal epithelium (10.0), and Brain (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ACYP2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ACYP2

SOURCE GeneReport for Unigene cluster for ACYP2 Gene:

Hs.516173

Evidence on tissue expression from TISSUES for ACYP2 Gene

  • Muscle(4.5)
  • Liver(4.3)
  • Heart(4.3)
  • Nervous system(2.4)
genes like me logo Genes that share expression patterns with ACYP2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ACYP2 Gene

Orthologs for ACYP2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ACYP2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ACYP2 30 31
  • 98.99 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ACYP2 30 31
  • 92.26 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ACYP2 30 31
  • 91.25 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Acyp2 30
  • 85.37 (n)
Mouse
(Mus musculus)
Mammalia Acyp2 30 17 31
  • 82.65 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ACYP2 31
  • 68 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ACYP2 30 31
  • 83.33 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ACYP2 31
  • 69 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia acyp2 30
  • 75.27 (n)
Zebrafish
(Danio rerio)
Actinopterygii CABZ01090073.1 31
  • 46 (a)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4320 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG14022 30 31
  • 51.25 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008311 30
  • 49.1 (n)
Species where no ortholog for ACYP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for ACYP2 Gene

ENSEMBL:
Gene Tree for ACYP2 (if available)
TreeFam:
Gene Tree for ACYP2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ACYP2: view image

Paralogs for ACYP2 Gene

Paralogs for ACYP2 Gene

(1) SIMAP similar genes for ACYP2 Gene using alignment to 11 proteins:

  • ACYP2_HUMAN
  • D6W5B6_HUMAN
  • E9PF46_HUMAN
  • F8WA34_HUMAN
  • Q4ZFV7_HUMAN
  • Q53TK7_HUMAN
  • U3KPX1_HUMAN
  • U3KPX8_HUMAN
  • U3KQ09_HUMAN
  • U3KQ94_HUMAN
  • U3KQL2_HUMAN
genes like me logo Genes that share paralogs with ACYP2: view

Variants for ACYP2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ACYP2 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
731671 Benign: not provided 54,256,000(+) G/A MISSENSE_VARIANT,INTRON_VARIANT
752921 Likely Benign: not provided 54,256,113(+) G/A SYNONYMOUS_VARIANT,INTRON_VARIANT
767796 Benign: not provided 54,255,566(+) GGGGCCC/G INFRAME_DELETION,INTRON_VARIANT
767797 Benign: not provided 54,255,805(+) G/A MISSENSE_VARIANT,INTRON_VARIANT
767798 Benign: not provided 54,255,942(+) A/G SYNONYMOUS_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for ACYP2 Gene

Structural Variations from Database of Genomic Variants (DGV) for ACYP2 Gene

Variant ID Type Subtype PubMed ID
dgv3845n100 CNV gain 25217958
dgv3846n100 CNV loss 25217958
dgv3847n100 CNV loss 25217958
esv23028 CNV loss 19812545
esv2318898 CNV deletion 18987734
esv2664152 CNV deletion 23128226
esv2665732 CNV deletion 23128226
esv2720078 CNV deletion 23290073
esv2720079 CNV deletion 23290073
esv27584 CNV loss 19812545
esv2762639 CNV gain 21179565
esv3350713 CNV insertion 20981092
esv3590833 CNV loss 21293372
esv3590834 CNV loss 21293372
esv3590835 CNV loss 21293372
esv3590836 CNV loss 21293372
esv3892392 CNV loss 25118596
esv3892403 CNV loss 25118596
nsv1000652 CNV loss 25217958
nsv1001246 CNV gain 25217958
nsv1004632 CNV loss 25217958
nsv1006984 CNV loss 25217958
nsv1009828 CNV loss 25217958
nsv1010175 CNV loss 25217958
nsv1011975 CNV loss 25217958
nsv457897 CNV gain 19166990
nsv478094 CNV novel sequence insertion 20440878
nsv507013 OTHER sequence alteration 20534489
nsv525086 CNV loss 19592680
nsv582011 CNV loss 21841781
nsv582012 CNV gain 21841781
nsv997896 CNV gain 25217958

Variation tolerance for ACYP2 Gene

Residual Variation Intolerance Score: 74.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.85; 73.97% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACYP2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACYP2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACYP2 Gene

Disorders for ACYP2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ACYP2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
polyneuropathy due to drug
drug-induced hearing loss
  • drug induced hearing loss
frontometaphyseal dysplasia
  • fmd
- elite association - COSMIC cancer census association via MalaCards
Search ACYP2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ACYP2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ACYP2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ACYP2 Gene

Publications for ACYP2 Gene

  1. Common variants in ACYP2 influence susceptibility to cisplatin-induced hearing loss. (PMID: 25665007) Xu H … Yang JJ (Nature genetics 2015) 2 3
  2. GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease. (PMID: 21658281) Aouizerat BE … Tseng ZH (BMC cardiovascular disorders 2011) 3 41
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  5. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PMID: 20198315) Yoshida T … Yamada Y (International journal of molecular medicine 2010) 3 41

Products for ACYP2 Gene

Sources for ACYP2 Gene