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ACYP2 acylphosphatase 2 [ Homo sapiens (human) ]

Gene ID: 98, updated on 22-Apr-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
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Genomic context

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Location:
2p16.2
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (53971113..54305300)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (53967329..54301490)
105.20220307 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 chromosome 2 open reading frame 73 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. Association between ACYP2 polymorphisms and the risk of renal cell cancer. Wang Y, et al. Mol Genet Genomic Med, 2019 Nov. PMID 31487124, Free PMC Article
  2. Association between the ACYP2 Polymorphisms and IgAN Risk in the Chinese Han Population. Jin G, et al. Kidney Blood Press Res, 2019. PMID 31291640
  3. Assessment of the association between ACYP2 and laryngeal squamous cell carcinoma risk in Chinese males. Zhao W, et al. Mol Genet Genomic Med, 2019 Jul. PMID 31140742, Free PMC Article
  4. Associations between polymorphisms of the ACYP2 gene and Liver cancer risk: A case-control study and meta-analysis. Zhao W, et al. Mol Genet Genomic Med, 2019 Jul. PMID 31124313, Free PMC Article
  5. The influence of ACYP2 polymorphisms on gastrointestinal cancer susceptibility in the Chinese Han population. Duan X, et al. Mol Genet Genomic Med, 2019 Jul. PMID 31070019, Free PMC Article

See all (54) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. Telomere Length and Male Fertility.
    Title: Telomere Length and Male Fertility.
  3. 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.
  4. 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.
  5. 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.
  6. ACYP2 polymorphisms are associated with the risk of renal cell cancer.
    Title: Association between ACYP2 polymorphisms and the risk of renal cell cancer.
  7. 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.
  8. 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.
  9. 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.
  10. findings suggested that polymorphisms (rs843720 and rs12615793) of ACYP2 may be pivotal in the development of IgAN
    Title: Association between the ACYP2 Polymorphisms and IgAN Risk in the Chinese Han Population.
Submit: New GeneRIF Correction See all GeneRIFs (33)

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)

Genotypes

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 

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_2023_10

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

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