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Aliases for ACP2 Gene

Aliases for ACP2 Gene

  • Acid Phosphatase 2, Lysosomal 2 3 5
  • EC 3.1.3.2 4 63
  • LAP 3 4
  • Lysosomal Acid Phosphatase 2

External Ids for ACP2 Gene

Previous GeneCards Identifiers for ACP2 Gene

  • GC11M049200
  • GC11M048138
  • GC11M047292
  • GC11M047225
  • GC11M047218
  • GC11M046959
  • GC11M047260
  • GC11M047358
  • GC11M047942

Summaries for ACP2 Gene

Entrez Gene Summary for ACP2 Gene

  • This gene encodes the beta subunit of lysosomal acid phosphatase (LAP). LAP is chemically and genetically distinct from red cell acid phosphatase. The encoded protein belongs to a family of distinct isoenzymes which hydrolyze orthophosphoric monoesters to alcohol and phosphate. LAP-deficiencies in mice cause multiple defects including bone structure alterations, lysosomal storage defects in the kidneys and central nervous system, and an increased tendency towards seizures. An enzymatically-inactive allele of LAP in mice exhibited a more severe phenotype than the null allele, and defects included cerebellum abnormalities, growth retardation, hair-follicle abnormalities, and an ataxia-like phenotype. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]

GeneCards Summary for ACP2 Gene

ACP2 (Acid Phosphatase 2, Lysosomal) is a Protein Coding gene. Diseases associated with ACP2 include lysosomal acid phosphatase deficiency and keratoconus. Among its related pathways are Lysosome and Pyrimidine metabolism (KEGG). GO annotations related to this gene include acid phosphatase activity. An important paralog of this gene is ACPP.

Gene Wiki entry for ACP2 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACP2 Gene

Genomics for ACP2 Gene

Regulatory Elements for ACP2 Gene

Promoters for ACP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ACP2 on UCSC Golden Path with GeneCards custom track

Genomic Location for ACP2 Gene

Chromosome:
11
Start:
47,239,302 bp from pter
End:
47,248,906 bp from pter
Size:
9,605 bases
Orientation:
Minus strand

Genomic View for ACP2 Gene

Genes around ACP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACP2 Gene

Proteins for ACP2 Gene

  • Protein details for ACP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P11117-PPAL_HUMAN
    Recommended name:
    Lysosomal acid phosphatase
    Protein Accession:
    P11117
    Secondary Accessions:
    • E9PCI1
    • Q561W5
    • Q9BTU7

    Protein attributes for ACP2 Gene

    Size:
    423 amino acids
    Molecular mass:
    48344 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ACP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACP2 Gene

Proteomics data for ACP2 Gene at MOPED

Post-translational modifications for ACP2 Gene

  • N-glycosylated. The intermediates formed during enzymatic deglycosylation suggest that all eight predicted N-glycosylation sites are used.
  • The membrane-bound form is converted to the soluble form by sequential proteolytic processing. First, the C-terminal cytoplasmic tail is removed. Cleavage by a lysosomal protease releases the soluble form in the lysosome lumen.
  • Glycosylation at Asn 92, Asn 133, Asn 167, Asn 177, Asn 191, Asn 267, Asn 322, and Asn 331
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains & Families for ACP2 Gene

Gene Families for ACP2 Gene

Protein Domains for ACP2 Gene

Graphical View of Domain Structure for InterPro Entry

P11117

UniProtKB/Swiss-Prot:

PPAL_HUMAN :
  • Belongs to the histidine acid phosphatase family.
Family:
  • Belongs to the histidine acid phosphatase family.
genes like me logo Genes that share domains with ACP2: view

Function for ACP2 Gene

Molecular function for ACP2 Gene

GENATLAS Biochemistry:
phosphatase acid,lysosomal
UniProtKB/Swiss-Prot CatalyticActivity:
A phosphate monoester + H(2)O = an alcohol + phosphate.

Enzyme Numbers (IUBMB) for ACP2 Gene

Gene Ontology (GO) - Molecular Function for ACP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004721 phosphoprotein phosphatase activity IEA --
genes like me logo Genes that share ontologies with ACP2: view
genes like me logo Genes that share phenotypes with ACP2: view

Human Phenotype Ontology for ACP2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ACP2 Gene

MGI Knock Outs for ACP2:

Animal Model Products

  • Taconic Biosciences Mouse Models for ACP2

miRNA for ACP2 Gene

miRTarBase miRNAs that target ACP2

No data available for Transcription Factor Targets and HOMER Transcription for ACP2 Gene

Localization for ACP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACP2 Gene

Lysosome membrane; Single-pass membrane protein; Lumenal side. Lysosome lumen. Note=The soluble form arises by proteolytic processing of the membrane-bound form. {ECO:0000269 PubMed:2684640, ECO:0000269 PubMed:3056714}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ACP2 Gene COMPARTMENTS Subcellular localization image for ACP2 gene
Compartment Confidence
extracellular 5
lysosome 5
vacuole 5
golgi apparatus 2
mitochondrion 2
plasma membrane 2
endoplasmic reticulum 1
endosome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for ACP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA,IDA 3160696
GO:0005765 lysosomal membrane IEA --
GO:0016020 membrane IDA 19946888
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with ACP2: view

Pathways & Interactions for ACP2 Gene

SuperPathways for ACP2 Gene

Superpath Contained pathways
1 Lysosome
2 Pyrimidine metabolism (KEGG)
genes like me logo Genes that share pathways with ACP2: view

Pathways by source for ACP2 Gene

1 KEGG pathway for ACP2 Gene
1 GeneGo (Thomson Reuters) pathway for ACP2 Gene

Gene Ontology (GO) - Biological Process for ACP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006470 protein dephosphorylation IEA --
GO:0007040 lysosome organization IEA --
GO:0016311 dephosphorylation IEA --
genes like me logo Genes that share ontologies with ACP2: view

No data available for SIGNOR curated interactions for ACP2 Gene

Drugs & Compounds for ACP2 Gene

(6) Drugs for ACP2 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Riboflavin Approved Nutra 150
1-Butanol Experimental Pharma 0
1-Proponol Experimental Pharma 0
Flavin Mononucleotide Experimental Pharma 6

(8) Additional Compounds for ACP2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1-Hexanol
  • 1-Hexanol
  • 1-Hexyl alcohol
  • 1-Hydroxyhexane
  • Alcohol C-6
  • Alcohol(C6)
111-27-3
1-Pentanol
  • 1-Pentanol
  • 1-Pentol
  • 1-Pentyl alcohol
  • Alcool amylique
  • Alcool amylique (french)
71-41-0
Isobutanol
  • 1-Hydroxymethylpropane
  • 2-Methyl propanol
  • 2-Methyl-1-propanol
  • 2-Methyl-1-propanyl alcohol
  • 2-Methylpropan-1-ol
78-83-1
Isopropyl alcohol
  • 2-Propanol
  • 2-Propyl alcohol
  • Alcojel
  • Alkolave
  • Avantin
67-63-0
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
genes like me logo Genes that share compounds with ACP2: view

Transcripts for ACP2 Gene

Unigene Clusters for ACP2 Gene

Acid phosphatase 2, lysosomal:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ACP2 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d ^ 8 ^ 9 ^ 10 ^ 11a · 11b
SP1: - - - -
SP2: - - -
SP3:
SP4: -
SP5:
SP6:

Relevant External Links for ACP2 Gene

GeneLoc Exon Structure for
ACP2
ECgene alternative splicing isoforms for
ACP2

Expression for ACP2 Gene

mRNA expression in normal human tissues for ACP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ACP2 Gene

This gene is overexpressed in Urine (23.7) and Nasal epithelium (13.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for ACP2 Gene



SOURCE GeneReport for Unigene cluster for ACP2 Gene Hs.532492

genes like me logo Genes that share expression patterns with ACP2: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for ACP2 Gene

Orthologs for ACP2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ACP2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ACP2 35
  • 88.97 (n)
  • 91.96 (a)
ACP2 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACP2 35
  • 91.65 (n)
  • 95.04 (a)
ACP2 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Acp2 35
  • 88.1 (n)
  • 89.36 (a)
Acp2 16
Acp2 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ACP2 35
  • 99.61 (n)
  • 99.53 (a)
ACP2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acp2 35
  • 87.71 (n)
  • 89.6 (a)
oppossum
(Monodelphis domestica)
Mammalia ACP2 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ACP2 36
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves ACP2 35
  • 69.42 (n)
  • 71.93 (a)
ACP2 36
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACP2 36
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acp2 35
  • 62.29 (n)
  • 61.36 (a)
Str.3282 35
zebrafish
(Danio rerio)
Actinopterygii acp2 35
  • 60.1 (n)
  • 59.08 (a)
Dr.25243 35
ACP2 36
  • 53 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Acph-1 37
  • 35 (a)
CG6656 37
  • 31 (a)
CG9449 37
  • 34 (a)
CG9451 37
  • 34 (a)
CG9452 37
  • 32 (a)
Acph-1 35
  • 49.21 (n)
  • 37.5 (a)
Acph-1 36
  • 31 (a)
ManyToMany
CG6656 36
  • 28 (a)
ManyToMany
CG9449 36
  • 29 (a)
ManyToMany
CG9451 36
  • 29 (a)
ManyToMany
CG9452 36
  • 27 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002387 35
  • 48.71 (n)
  • 37.5 (a)
worm
(Caenorhabditis elegans)
Secernentea B0361.7 37
  • 30 (a)
F52E1.8 37
  • 31 (a)
R13H4.3 37
  • 33 (a)
T13B5.3 37
  • 33 (a)
T21B6.2 37
  • 31 (a)
pho-5 35
  • 44.01 (n)
  • 33.83 (a)
acp-1 36
  • 20 (a)
ManyToMany
acp-2 36
  • 18 (a)
ManyToMany
acp-3 36
  • 19 (a)
ManyToMany
acp-4 36
  • 18 (a)
ManyToMany
acp-5 36
  • 24 (a)
ManyToMany
C27A2.12 36
  • 22 (a)
ManyToMany
F26C11.1 36
  • 23 (a)
ManyToMany
pho-1 36
  • 24 (a)
ManyToMany
pho-10 36
  • 24 (a)
ManyToMany
pho-11 36
  • 22 (a)
ManyToMany
pho-12 36
  • 26 (a)
ManyToMany
pho-13 36
  • 23 (a)
ManyToMany
pho-14 36
  • 28 (a)
ManyToMany
pho-4 36
  • 24 (a)
ManyToMany
pho-5 36
  • 30 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 34 (a)
OneToMany
Species with no ortholog for ACP2:
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)

Evolution for ACP2 Gene

ENSEMBL:
Gene Tree for ACP2 (if available)
TreeFam:
Gene Tree for ACP2 (if available)

Paralogs for ACP2 Gene

Paralogs for ACP2 Gene

genes like me logo Genes that share paralogs with ACP2: view

Variants for ACP2 Gene

Sequence variations from dbSNP and Humsavar for ACP2 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
VAR_027801 -
rs34425282 - 47,243,021(-) AGATT(C/T)TGGGT downstream-variant-500B, reference, missense
rs4647764 - 47,240,184(+) GAGGA(C/T)GGTGA reference, missense
rs2242261 -- 47,245,257(-) TCAGC(A/C/T)GGCCC intron-variant
rs2242262 -- 47,244,989(-) AGCCC(A/C)TCTGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ACP2 Gene

Variant ID Type Subtype PubMed ID
nsv897323 CNV Loss 21882294

Variation tolerance for ACP2 Gene

Residual Variation Intolerance Score: 34% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.87; 34.98% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ACP2 Gene

HapMap Linkage Disequilibrium report
ACP2
Human Gene Mutation Database (HGMD)
ACP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACP2 Gene

Disorders for ACP2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ACP2 Gene - From: OMIM, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
lysosomal acid phosphatase deficiency
  • lysosomal acid phosphatase
keratoconus
  • conical cornea
- elite association - COSMIC cancer census association via MalaCards
Search ACP2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PPAL_HUMAN
  • Note=Lysosomal acid phosphatase has been shown to be deficient in cultured fibroblasts from patients manifesting intermittent vomiting, hypotonia, lethargy, opisthotonos, terminal bleeding and death in early infancy. {ECO:0000269 PubMed:5410815}.

Genatlas disease for ACP2 Gene

phosphatase acid,deficiency

Relevant External Links for ACP2

Genetic Association Database (GAD)
ACP2
Human Genome Epidemiology (HuGE) Navigator
ACP2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ACP2
genes like me logo Genes that share disorders with ACP2: view

Publications for ACP2 Gene

  1. Polymorphisms in mitochondrial genes and prostate cancer risk. (PMID: 19064571) Wang L. … Thibodeau S.N. (Cancer Epidemiol. Biomarkers Prev. 2008) 3 48 67
  2. Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphisms. (PMID: 17357082) Melquist S. … Stephan D.A. (Am. J. Hum. Genet. 2007) 3 23
  3. The tyrosine motifs of Lamp 1 and LAP determine their direct and indirect targetting to lysosomes. (PMID: 11801736) ObermA1ller S. … HAPning S. (J. Cell. Sci. 2002) 3 23
  4. Assignment and linear order of human acid phosphatase-2, esterase A4, and lactate dehydrogenase A genes on chromosome 11. (PMID: 975882) Shows T.B. … Lalley P.A. (Cytogenet. Cell Genet. 1976) 2 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for ACP2 Gene

Sources for ACP2 Gene

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