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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
  • EC 3.6.1.7 4 56
  • ACYP 3 4
  • Testicular Tissue Protein Li 11 3
  • Acylphosphatase-2 3
  • 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. Among its related pathways are Pyruvate metabolism and Pyrimidine metabolism (KEGG). Gene Ontology (GO) annotations related to this gene include acylphosphatase activity. An important paralog of this gene is ACYP1.

UniProtKB/Swiss-Prot for ACYP2 Gene

  • Its physiological role is not yet clear.

Gene Wiki entry for ACYP2 Gene

Additional gene information for ACYP2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACYP2 Gene

Genomics for ACYP2 Gene

GeneHancer (GH) Regulatory Elements for ACYP2 Gene

Promoters and enhancers for ACYP2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I053967 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 570.2 -0.8 -807 4.7 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 POLR2B ZNF207 ACYP2 PSME4 HMGB1P31 ASB3 GPR75-ASB3
GH02I054114 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 579.4 +144.8 144804 2.4 HDGF PKNOX1 SMAD1 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ACYP2 LOC105374615 RNU7-172P
GH02I054041 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 31.8 +72.8 72805 3.6 FOXA2 MLX ARID4B DMAP1 ZNF48 SLC30A9 CBX5 ATF7 FOS SP5 ACYP2 RNU7-172P EML6 TSPYL6 HMGB1P31 GPR75 RPL21P30
GH02I053785 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 17.1 -183.9 -183853 3 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 POLR2B ASB3 ERLEC1 ACYP2 GPR75 GPR75-ASB3
GH02I053993 Enhancer 1.1 FANTOM5 Ensembl ENCODE 28.2 +23.8 23773 2.8 ZNF362 ZBTB11 JUNB ZC3H11A ZNF781 ZNF518A ZNF697 ZNF555 ZBTB33 RUNX3 ACYP2 HMGB1P31 ASB3 PSME4 GC02P053991 GC02P054007
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ACYP2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ACYP2 gene promoter:

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)

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
  • Predicted secreted proteins

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 CatalyticActivity:
An acylphosphate + H(2)O = a carboxylate + phosphate.
UniProtKB/Swiss-Prot Function:
Its physiological role is not yet clear.

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 IBA --
GO:0005515 protein binding IPI 25416956
GO:0016787 hydrolase activity IEA --
GO:0042802 identical protein binding IPI 16084386
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

Clone Products

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 2
cytosol 2

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

genes like me logo Genes that share pathways with ACYP2: view

Pathways by source for ACYP2 Gene

1 KEGG pathway for ACYP2 Gene
1 GeneGo (Thomson Reuters) pathway for ACYP2 Gene

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
Formic acid Approved, Experimental, Investigational Pharma Target 0
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Potent pro-apoptotic anticancer agent; activates caspase-3, Platinum 2906
Benzoic Acid Approved, Investigational Pharma 8
Palmitic Acid Approved, Experimental Pharma Full agonist, Agonist 23
Phosphoric acid Approved Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Arachidic acid
  • Arachate
  • Arachic acid
  • Arachidate
  • Arachidic acid
  • Eicosanoate
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
  • Heptadecanoate
  • Heptadecanoic acid
  • Margarate
  • Margaric acid
  • Margarinate
506-12-7
Heptadecanoyl CoA
  • Heptadecanoate
  • Heptadecanoic acid
  • Heptadecanoic acid coa
  • Heptadecanoyl coenzyme A
  • Heptadecanoyl-coA
3546-17-6
genes like me logo Genes that share compounds with ACYP2: view

Transcripts for ACYP2 Gene

Unigene Clusters for ACYP2 Gene

Acylphosphatase 2, muscle type:
Representative Sequences:

Clone Products

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
ECgene alternative splicing isoforms for
ACYP2

Expression for ACYP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for ACYP2 Gene



NURSA nuclear receptor signaling pathways regulating expression of ACYP2 Gene:

ACYP2

SOURCE GeneReport for Unigene cluster for ACYP2 Gene:

Hs.516173

Evidence on tissue expression from TISSUES for ACYP2 Gene

  • Muscle(4.4)
  • Heart(4.3)
  • Liver(4.2)
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 33 34
  • 98.99 (n)
cow
(Bos Taurus)
Mammalia ACYP2 33 34
  • 92.26 (n)
dog
(Canis familiaris)
Mammalia ACYP2 34 33
  • 91.25 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acyp2 33
  • 85.37 (n)
mouse
(Mus musculus)
Mammalia Acyp2 33 16 34
  • 82.65 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ACYP2 34
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves ACYP2 33 34
  • 83.33 (n)
lizard
(Anolis carolinensis)
Reptilia ACYP2 34
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acyp2 33
  • 75.27 (n)
zebrafish
(Danio rerio)
Actinopterygii CABZ01090073.1 34
  • 46 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4320 33
fruit fly
(Drosophila melanogaster)
Insecta CG14022 33 34
  • 51.25 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008311 33
  • 49.1 (n)
Species where no ortholog for ACYP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for ACYP2 Gene

Paralogs for ACYP2 Gene

genes like me logo Genes that share paralogs with ACYP2: view

Variants for ACYP2 Gene

Sequence variations from dbSNP and Humsavar for ACYP2 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs11125529 association, Chronic osteomyelitis 54,248,729(+) C/A/T genic_downstream_transcript_variant, intron_variant
rs1000000610 -- 53,994,079(+) C/A genic_upstream_transcript_variant, intron_variant
rs1000002880 -- 54,123,850(+) G/C/T intron_variant
rs1000007960 -- 54,278,042(+) C/T genic_downstream_transcript_variant, intron_variant
rs1000021973 -- 54,016,934(+) C/T genic_upstream_transcript_variant, intron_variant

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

Additional Disease Information for ACYP2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for ACYP2 Gene.

No data available for MalaCards , 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 58
  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 44 58
  3. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M … Yamada Y (American journal of hypertension 2010) 3 44 58
  4. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PMID: 20198315) Yoshida T … Yamada Y (International journal of molecular medicine 2010) 3 44 58
  5. 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 44 58

Products for ACYP2 Gene

Sources for ACYP2 Gene

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