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    ACP2 acid phosphatase 2, lysosomal [ Homo sapiens (human) ]

    Gene ID: 53, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ACP2provided by HGNC
    Official Full Name
    acid phosphatase 2, lysosomalprovided by HGNC
    Primary source
    HGNC:HGNC:123
    See related
    Ensembl:ENSG00000134575 MIM:171650; AllianceGenome:HGNC:123
    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
    LAP
    Summary
    The protein encoded by this gene belongs to the histidine acid phosphatase family, which hydrolyze orthophosphoric monoesters to alcohol and phosphate. This protein is localized to the lysosomal membrane, and is chemically and genetically distinct from the red cell acid phosphatase. Mice lacking this gene showed multiple defects, including bone structure alterations, lysosomal storage defects, and an increased tendency towards seizures. An enzymatically-inactive allele of this gene in mice showed severe growth retardation, hair-follicle abnormalities, and an ataxia-like phenotype. Alternatively spliced transcript variants have been found for this gene. A C-terminally extended isoform is also predicted to be produced by the use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism. [provided by RefSeq, Oct 2017]
    Expression
    Ubiquitous expression in duodenum (RPKM 19.4), placenta (RPKM 17.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ACP2 in Genome Data Viewer
    Location:
    11p11.2; 11p12-p11
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (47239302..47248814, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (47396045..47405572, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (47260853..47270365, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ribosomal protein S20 pseudogene 26 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:47231264-47231443 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:47235129-47235965 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:47236089-47237288 Neighboring gene damage specific DNA binding protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4693 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4694 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:47270641-47270808 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:47280987-47281555 Neighboring gene nuclear receptor subfamily 1 group H member 3 Neighboring gene Sharpr-MPRA regulatory region 2100 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4695 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3325 Neighboring gene Sharpr-MPRA regulatory region 9889 Neighboring gene MADD antisense RNA 1 Neighboring gene MAP kinase activating death domain Neighboring gene myosin binding protein C3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:47371915-47372896 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:47372897-47373877

    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. Intracellular enzymatic response of lymphocytes and neutrophils in patients with cancer of the larynx. Gierek T, et al. Folia Haematol Int Mag Klin Morphol Blutforsch, 1977. PMID 69583
    2. The tyrosine motifs of Lamp 1 and LAP determine their direct and indirect targetting to lysosomes. Obermüller S, et al. J Cell Sci, 2002 Jan 1. PMID 11801736
    3. Cathepsin G, acid phosphatase, and alpha 1-proteinase inhibitor messenger RNA levels in keratoconus corneas. Whitelock RB, et al. Invest Ophthalmol Vis Sci, 1997 Feb. PMID 9040486
    4. Clinical and biological aspects of acid phosphatase. Moss DW, et al. Crit Rev Clin Lab Sci, 1995. PMID 7576159
    5. Isoelectric focusing pattern of acid phosphatase and acid esterase in human blood cells, including thymocytes, T lymphocytes, and B lymphocytes. Radzun HJ, et al. Exp Hematol, 1980 Jul. PMID 6970673

    See all (56) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical and molecular evaluation of 13 Brazilian patients with Gomez-Lopez-Hernandez syndrome.
      Title: Clinical and molecular evaluation of 13 Brazilian patients with Gomez-López-Hernández syndrome.
    2. In addition to replicating a previously identified genome-wide significant locus for corneal astigmatism near the PDGFRA gene, gene-based analysis identified three novel candidate genes, CLDN7, ACP2, and TNFAIP8L3, that warrant further investigation to understand their role in the pathogenesis of corneal astigmatism. (Meta-analysis)
      Title: A genome-wide association study of corneal astigmatism: The CREAM Consortium.
    3. Data show that lysosomal acid phosphatase 2 (ACP2) was overexpressed in colorectal cancer (CRC) and associated with poor outcome in stage II CRC, and that high expression of ACP2 patients were more sensitive to chemotherapy than those with a low expression, suggesting ACP2 as a marker for CRC patients receiving chemotherapy.
      Title: Lysosomal acid phosphatase 2 is an unfavorable prognostic factor but is associated with better survival in stage II colorectal cancer patients receiving chemotherapy.
    4. An enzymatically inactive allele of mouse Acp2 causes cerebellum abnormalities, growth retardation, hair-follicle abnormalities, and an ataxia-like phenotype.
      Title: Mutation in the gene encoding lysosomal acid phosphatase (Acp2) causes cerebellum and skin malformation in mouse.
    5. LAP-deficient mice exhibit multiple defects including bone structure alterations, lysosomal storage defects in the kidneys and central nervous system, and an increased tendency towards seizures.
      Title: Mice deficient in lysosomal acid phosphatase develop lysosomal storage in the kidney and central nervous system.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: Polymorphisms in mitochondrial genes and prostate cancer risk.
    7. Genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphisms.
    Submit: New GeneRIF Correction

    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

    Associated conditions

    Description Tests
    Acid phosphatase deficiency
    MedGen: C0268410 OMIM: 200950 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of acid phosphatase 2, lysosomal (ACP2) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    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 acid phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in lysosome organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 
    located_in lysosomal lumen IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in lysosomal membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in lysosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in lysosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane HDA PubMed 

    General protein information

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    Preferred Names
    lysosomal acid phosphatase
    NP_001289418.1
    NP_001289419.1
    NP_001289420.1
    NP_001289421.1
    NP_001343945.1
    NP_001601.1

    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.

    Genomic

    1. NG_023296.2 RefSeqGene

      Range
      5000..14512
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001302489.2 → NP_001289418.1  lysosomal acid phosphatase isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate 5' terminal exon, and initiates translation at an alternate translation start codon compared to variant 1. The encoded shorter isoform (3) has a distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC018410
      Consensus CDS
      CCDS76402.1
      UniProtKB/TrEMBL
      B7Z552, E9PQY3
      Related
      ENSP00000432439.1, ENST00000533929.7
      Conserved Domains (1) summary
      cd07061
      Location:11 → 302
      HP_HAP_like; Histidine phosphatase domain found in histidine acid phosphatases and phytases; contains a His residue which is phosphorylated during the reaction

    2. NM_001302490.2 → NP_001289419.1  lysosomal acid phosphatase isoform 4 precursor

      See identical proteins and their annotated locations for NP_001289419.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an in-frame exon in the 5' coding region compared to variant 1. The encoded shorter isoform (4) lacks an internal protein segment compared to isoform 1.
      Source sequence(s)
      AC018410
      Consensus CDS
      CCDS76403.1
      UniProtKB/TrEMBL
      B7Z6L8, B7Z7D2
      Related
      ENSP00000432205.1, ENST00000527256.7
      Conserved Domains (1) summary
      cl11399
      Location:37 → 298
      HP; Histidine phosphatase domain found in a functionally diverse set of proteins, mostly phosphatases; contains a His residue which is phosphorylated during the reaction

    3. NM_001302491.2 → NP_001289420.1  lysosomal acid phosphatase isoform 5 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks two consecutive in-frame exons in the 5' coding region compared to variant 1. The encoded shorter isoform (5) lacks an internal protein segment compared to isoform 1.
      Source sequence(s)
      AC018410
      Consensus CDS
      CCDS76404.1
      UniProtKB/TrEMBL
      B7Z4Z2, E9PHY0
      Related
      ENSP00000436658.1, ENST00000529444.7
      Conserved Domains (1) summary
      cd07061
      Location:33 → 267
      HP_HAP_like; Histidine phosphatase domain found in histidine acid phosphatases and phytases; contains a His residue which is phosphorylated during the reaction

    4. NM_001302492.2 → NP_001289421.1  lysosomal acid phosphatase isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks an internal exon and uses an alternate acceptor splice site in the 5' region compared to variant 1. These differences result in translation initiation at an in-frame downstream start codon compared to variant 1. The encoded isoform (6) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC018410
      UniProtKB/TrEMBL
      B7Z8T9
      Conserved Domains (1) summary
      cd07061
      Location:16 → 143
      HP_HAP_like; Histidine phosphatase domain found in histidine acid phosphatases and phytases; contains a His residue which is phosphorylated during the reaction

    5. NM_001357016.2 → NP_001343945.1  lysosomal acid phosphatase isoform 1x precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript and encodes two isoforms, which result from the use of alternative in-frame translation termination codons. The shorter isoform (1) results from translation termination at the upstream UGA stop codon, while the longer isoform (1x) results from UGA stop codon readthrough to the downstream UAG termination codon. This RefSeq represents the longer isoform (1x). As the UGA stop codon has been reported to specify several alternative amino acids (tryptophan, cysteine, arginine and serine), its location in the longer isoform is denoted by an 'X'.
      Source sequence(s)
      AC018410
      Consensus CDS
      CCDS91470.1
      UniProtKB/TrEMBL
      A0A5F9ZHR7, B7Z6L8
      Related
      ENSP00000500571.2, ENST00000672636.2
      Conserved Domains (1) summary
      cd07061
      Location:33 → 330
      HP_HAP_like; Histidine phosphatase domain found in histidine acid phosphatases and phytases; contains a His residue which is phosphorylated during the reaction

    6. NM_001610.4 → NP_001601.1  lysosomal acid phosphatase isoform 1 precursor

      See identical proteins and their annotated locations for NP_001601.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript and encodes two isoforms, which result from the use of alternative in-frame translation termination codons. The shorter isoform (1) results from translation termination at the upstream UGA stop codon, while the longer isoform (1x) results from UGA stop codon readthrough to the downstream UAG termination codon. This RefSeq represents the shorter isoform (1).
      Source sequence(s)
      AC018410
      Consensus CDS
      CCDS7928.1
      UniProtKB/Swiss-Prot
      E9PCI1, P11117, Q561W5, Q9BTU7
      UniProtKB/TrEMBL
      B7Z6L8
      Related
      ENSP00000500291.1, ENST00000672073.1
      Conserved Domains (1) summary
      cd07061
      Location:33 → 330
      HP_HAP_like; Histidine phosphatase domain found in histidine acid phosphatases and phytases; contains a His residue which is phosphorylated during the reaction

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      47239302..47248814 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_007062487.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      47396045..47405572 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_008488405.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001131064.1: Suppressed sequence

      Description
      NM_001131064.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P11117.3 GenPept UniProtKB/Swiss-Prot:P11117

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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