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    ACYP2 acylphosphatase 2 [ Homo sapiens (human) ]

    Gene ID: 98, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ACYP2provided by HGNC
    Official Full Name
    acylphosphatase 2provided by HGNC
    Primary source
    HGNC:HGNC:180
    See related
    Ensembl:ENSG00000170634 MIM:102595; AllianceGenome:HGNC:180
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ACYM; ACYP
    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 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]
    Expression
    Ubiquitous expression in brain (RPKM 3.1), heart (RPKM 2.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ACYP2 in Genome Data Viewer
    Location:
    2p16.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (53971113..54305300)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (53967329..54301490)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (54198250..54532437)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene GPR75-ASB3 readthrough Neighboring gene G protein-coupled receptor 75 Neighboring gene proteasome activator subunit 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:54196978-54197742 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11482 Neighboring gene Sharpr-MPRA regulatory region 11857 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15756 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11484 Neighboring gene uncharacterized LOC124906138 Neighboring gene ribosomal protein L21 pseudogene 30 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:54300334-54301533 Neighboring gene Sharpr-MPRA regulatory region 4186 Neighboring gene Sharpr-MPRA regulatory region 9427 Neighboring gene high mobility group box 1 pseudogene 31 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:54321929-54322624 Neighboring gene uncharacterized LOC105374615 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11485 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11486 Neighboring gene Sharpr-MPRA regulatory region 3084 Neighboring gene RNA, U7 small nuclear 172 pseudogene Neighboring gene uncharacterized LOC105374610 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15758 Neighboring gene TSPY like 6 Neighboring gene ciliary microtubule inner protein 6 Neighboring gene uncharacterized LOC102724072

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Stabilization of a protein conferred by an increase in folded state entropy. Dagan S, et al. Proc Natl Acad Sci U S A, 2013 Jun 25. PMID 23754389, Free PMC Article
    2. Leukocyte telomere length-related genetic variants in ACYP2 contribute to the risk of esophageal carcinoma in Chinese Han population. Fang Q, et al. Oncotarget, 2017 Apr 11. PMID 28424424, Free PMC Article
    3. Association analysis of telomere length related gene ACYP2 with the gastric cancer risk in the northwest Chinese Han population. Li J, et al. Oncotarget, 2017 May 9. PMID 28415712, Free PMC Article
    4. Association between genetic polymorphism of telomere-associated gene ACYP2 and the risk of HAPE among the Chinese Han population: A Case-control study. Zhu L, et al. Medicine (Baltimore), 2017 Mar. PMID 28353602, Free PMC Article
    5. Genetic polymorphisms in the telomere length-related gene ACYP2 are associated with the risk of colorectal cancer in a Chinese Han population. Liu F, et al. Oncotarget, 2017 Feb 7. PMID 28039478, Free PMC Article

    See all (60) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Transcription factor 7 like 2 gene polymorphism and advanced glycation end products as risk factors for diabetic nephropathy.
      Title: Transcription factor 7 like 2 gene polymorphism and advanced glycation end products as risk factors for diabetic nephropathy.
    2. Study of the effect of ACYP2 single nucleotide polymorphisms rs843711 and rs843706 in Egyptian patients with hepatocellular carcinoma.
      Title: Study of the effect of ACYP2 single nucleotide polymorphisms rs843711 and rs843706 in Egyptian patients with hepatocellular carcinoma.
    3. Telomere Length and Male Fertility.
      Title: Telomere Length and Male Fertility.
    4. ACYP2 contributes to malignant progression of glioma through promoting Ca(2+) efflux and subsequently activating c-Myc and STAT3 signals.
      Title: ACYP2 contributes to malignant progression of glioma through promoting Ca(2+) efflux and subsequently activating c-Myc and STAT3 signals.
    5. The influence of TERC, TERT and ACYP2 genes polymorphisms on plasma telomerase concentration, telomeres length and T2DM.
      Title: The influence of TERC, TERT and ACYP2 genes polymorphisms on plasma telomerase concentration, telomeres length and T2DM.
    6. rs1682111 variant was significantly associated with a decreased laryngeal squamous cell carcinoma (LSCC)susceptibility. Polymorphisms of rs10439478, rs11125529, rs12615793, rs843711, rs11896604, rs17045754 were significantly associated with an increased LSCC risk (p < 0.05). The results of haplotype analysis indicated that "TTCTCG" and "TTCTAA" in block 1 and "TG" in block 2 showed risk factor for development of LSCC.
      Title: Assessment of the association between ACYP2 and laryngeal squamous cell carcinoma risk in Chinese males.
    7. ACYP2 polymorphisms are associated with the risk of renal cell cancer.
      Title: Association between ACYP2 polymorphisms and the risk of renal cell cancer.
    8. rs6713088, rs843711 and rs11896604 of ACY2 gene were correlated with an increased risk of Gastrointestinal cancer.
      Title: The influence of ACYP2 polymorphisms on gastrointestinal cancer susceptibility in the Chinese Han population.
    9. ACYP2 rs1682111 was associated with the risk of cancer. ACYP2 gene high expression was found to be associated with better overall survial for all liver patients.
      Title: Associations between polymorphisms of the ACYP2 gene and Liver cancer risk: A case-control study and meta-analysis.
    10. Traditional genome-wide association studies have identified single-nucleotide polymorphisms in ACYP2 and WFS1 associated with cisplatin-induced hearing loss.
      Title: Genetic and Modifiable Risk Factors Contributing to Cisplatin-induced Toxicities.
    Submit: New GeneRIF Correction See all GeneRIFs (34)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.
    EBI GWAS Catalog
    Identification of seven loci affecting mean telomere length and their association with disease.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables acylphosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in phosphate-containing compound metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in mitochondrion HTP PubMed 

    General protein information

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    Preferred Names
    acylphosphatase-2
    Names
    acylphosphatase 2, muscle type
    acylphosphatase, muscle type isozyme
    acylphosphate phosphohydrolase 2
    testicular tissue protein Li 11
    NP_001307515.1
    NP_001307516.1
    NP_001307517.1
    NP_001307518.1
    NP_001307519.1
    NP_612457.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001320586.2 → NP_001307515.1  acylphosphatase-2 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      BU543943, CA308062
      Consensus CDS
      CCDS82452.1
      UniProtKB/TrEMBL
      U3KQL2
      Related
      ENSP00000475986.1, ENST00000607452.6
      Conserved Domains (1) summary
      pfam00708
      Location:94 → 171
      Acylphosphatase; Acylphosphatase

    2. NM_001320587.2 → NP_001307516.1  acylphosphatase-2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      BG741807, CA308062
      Conserved Domains (1) summary
      pfam00708
      Location:63 → 140
      Acylphosphatase; Acylphosphatase

    3. NM_001320588.2 → NP_001307517.1  acylphosphatase-2 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) represents use of an alternate promoter and therefore differs in the 5' UTR and 5' coding region compared to variant 1. The resulting isoform (4) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC008280, BF671963, CA308062
      UniProtKB/TrEMBL
      U3KPX8
      Conserved Domains (1) summary
      cl00551
      Location:1 → 73
      Acylphosphatase

    4. NM_001320589.2 → NP_001307518.1  acylphosphatase-2 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) contains an alternate 3' exon and represents use of an alternate promoter, therefore differing in the 5' UTR and 5' coding region compared to variant 1. The resulting isoform (5) has shorter and distinct N- and C-termini compared to isoform 1.
      Source sequence(s)
      BU857820, CA308062
      Consensus CDS
      CCDS92754.1
      UniProtKB/TrEMBL
      F8WA34, Q53TK7
      Related
      ENSP00000306448.5, ENST00000303536.8
      Conserved Domains (1) summary
      pfam00708
      Location:8 → 62
      Acylphosphatase; Acylphosphatase

    5. NM_001320590.2 → NP_001307519.1  acylphosphatase-2 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 3' UTR and coding sequence and represents use of an alternate promoter, therefore differing in the 5' UTR and 5' coding region compared to variant 1. The resulting isoform (6) has shorter and distinct N- and C-termini compared to isoform 1.
      Source sequence(s)
      AC008280, AK307096
      Consensus CDS
      CCDS92753.1
      UniProtKB/TrEMBL
      E9PF46, Q53TK7
      Related
      ENSP00000385674.2, ENST00000406041.5
      Conserved Domains (1) summary
      cl00551
      Location:8 → 64
      Acylphosphatase

    6. NM_138448.4 → NP_612457.1  acylphosphatase-2 isoform 3

      See identical proteins and their annotated locations for NP_612457.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents use of an alternate promoter and therefore differs in the 5' UTR and 5' coding region compared to variant 1. The resulting isoform (3) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      BC012290, CA308062
      Consensus CDS
      CCDS1850.1
      UniProtKB/Swiss-Prot
      P14621
      UniProtKB/TrEMBL
      A0A140VJD7
      Related
      ENSP00000378161.3, ENST00000394666.9
      Conserved Domains (1) summary
      pfam00708
      Location:10 → 97
      Acylphosphatase; Acylphosphatase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      53971113..54305300
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      53967329..54301490
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P14621.2 GenPept UniProtKB/Swiss-Prot:P14621

    Gene LinkOut

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