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Aliases for ACP2 Gene

Aliases for ACP2 Gene

  • Acid Phosphatase 2, Lysosomal 2 3 5
  • Lysosomal Acid Phosphatase 2 3
  • EC 3.1.3.2 4 58
  • LAP 3 4

External Ids for ACP2 Gene

Previous GeneCards Identifiers for ACP2 Gene

  • GC11M049200
  • GC11M048138
  • GC11M047292
  • GC11M047225
  • GC11M047218
  • GC11M046959
  • GC11M047260
  • GC11M047358
  • GC11M047942
  • GC11M050794
  • GC11M051589
  • GC11M052251
  • GC11M052911

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 Pyrimidine metabolism (KEGG) and Metabolism. GO annotations related to this gene include acid phosphatase activity. An important paralog of this gene is ACPP.

Gene Wiki entry for ACP2 Gene

Additional gene information for ACP2 Gene

No data available for CIViC summary , 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

Enhancers for ACP2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11H047267 1.4 ENCODE dbSUPER 27.5 -21.4 -21439 5 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A FEZF1 YY1 ZNF766 ACP2 FNBP4 PACSIN3 NUP160 ENSG00000200090 ENSG00000270060 DDB2 RPS10P19 NR1H3 ARFGAP2
GH11H047252 1.5 FANTOM5 ENCODE dbSUPER 16.3 -5.7 -5719 4 ELF3 MLX ARID4B DMAP1 RAD21 THRB RARA YY1 ZNF121 ZNF366 ACP2 ENSG00000256897 DDB2 PACSIN3 ARFGAP2 MADD MYBPC3 SPI1 CELF1
GH11H047263 1.4 Ensembl ENCODE dbSUPER 16.2 -16.3 -16273 2 HDAC1 HDGF PKNOX1 ATF1 NFRKB TCF12 ZNF766 ELK1 ATF7 FOS ACP2 PACSIN3 MADD
GH11H047247 1.2 ENCODE 17.8 +0.1 121 2 ZFP64 FEZF1 DMAP1 YY1 ZNF143 SP3 ZC3H11A MEF2D SSRP1 ZNF610 DDB2 NUP160 PACSIN3 ACP2 RPS10P19 FNBP4 ENSG00000200090 ENSG00000256897 SLC39A13 AMBRA1
GH11H047256 1.3 ENCODE dbSUPER 16.3 -9.9 -9908 3 MLX ARID4B DMAP1 BRCA1 YY1 ZNF121 GLIS2 ELK1 ZNF143 DEK PACSIN3 ACP2 ARFGAP2 MADD C1QTNF4
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ACP2 on UCSC Golden Path with GeneCards custom track

Promoters for ACP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000039658 6 1401 ZFP64 FEZF1 DMAP1 YY1 ZNF143 SP3 ZC3H11A MEF2D SSRP1 ZNF610

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

Selected DME Specific Peptides for ACP2 Gene

P11117:
  • WPQGFGQLT
  • DRTLMSA
  • EQLQNETR
  • VYDTLFC
  • NAQFLDMVANETGL
  • WQPIPVHT
  • RLQGGVL
  • PEYQNES
  • GWSRAALLQL
  • YRHGDRSPV
  • ANLAGLFP
  • PKLLVYSAHDTTLVALQMAL
  • EDRLLKFPLGPCPR
  • YPKDPYQEE
  • GNFSVEMYFRN
  • ADTEVIVALAVCGSILFLLIVLLLT
  • LPPWASPQT
  • RSTDFDRTL
  • VYNGEQAPYASCH

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 posLast=9292, posLast=133133, Asn167, Asn177, Asn191, Asn267, Asn322, and Asn331
  • Modification sites at PhosphoSitePlus

Domains & Families for ACP2 Gene

Gene Families for ACP2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted membrane proteins
  • Predicted secreted proteins

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

Phenotypes From GWAS Catalog for ACP2 Gene

Gene Ontology (GO) - Molecular Function for ACP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003993 acid phosphatase activity IEA --
GO:0016787 hydrolase 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

CRISPR Products

miRNA for ACP2 Gene

miRTarBase miRNAs that target ACP2

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ACP2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
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 ACP2 gene
Compartment Confidence
extracellular 5
lysosome 5
plasma membrane 2
mitochondrion 2
golgi apparatus 2
nucleus 1
endoplasmic reticulum 1
endosome 1

Gene Ontology (GO) - Cellular Components for ACP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IDA 3160696
GO:0005765 lysosomal membrane IEA --
GO:0016020 membrane IDA,IEA 19946888
GO:0016021 integral component of membrane IEA --
GO:0043202 lysosomal lumen IEA --
genes like me logo Genes that share ontologies with ACP2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ACP2 Gene

Pathways & Interactions for ACP2 Gene

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

Pathways by source for ACP2 Gene

3 KEGG pathways 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:0001501 skeletal system development 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Isopropyl alcohol Approved Pharma 0
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Riboflavin Approved, Vet_approved Nutra 186
1-Butanol Experimental Pharma 0

(4) Additional Compounds for ACP2 Gene - From: HMDB

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
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ACP2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for ACP2 Gene



NURSA nuclear receptor signaling pathways regulating expression of ACP2 Gene:

ACP2

SOURCE GeneReport for Unigene cluster for ACP2 Gene:

Hs.532492

Evidence on tissue expression from TISSUES for ACP2 Gene

  • Nervous system(5)
  • Kidney(4.8)
  • Liver(4.7)
  • Blood(4.6)
  • Lung(2.9)
  • Intestine(2.6)
  • Spleen(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ACP2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • nervous
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • head
Thorax:
  • esophagus
Abdomen:
  • stomach
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with ACP2: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia ACP2 33 34
  • 99.61 (n)
dog
(Canis familiaris)
Mammalia ACP2 33 34
  • 91.65 (n)
cow
(Bos Taurus)
Mammalia ACP2 33 34
  • 88.97 (n)
mouse
(Mus musculus)
Mammalia Acp2 33 16 34
  • 88.1 (n)
rat
(Rattus norvegicus)
Mammalia Acp2 33
  • 87.71 (n)
oppossum
(Monodelphis domestica)
Mammalia ACP2 34
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ACP2 34
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves ACP2 33 34
  • 69.42 (n)
lizard
(Anolis carolinensis)
Reptilia ACP2 34
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acp2 33
  • 62.29 (n)
Str.3282 33
zebrafish
(Danio rerio)
Actinopterygii acp2 33
  • 60.1 (n)
ACP2 34
  • 53 (a)
OneToOne
Dr.25243 33
fruit fly
(Drosophila melanogaster)
Insecta Acph-1 35 33 34
  • 49.21 (n)
CG9449 35 34
  • 34 (a)
CG9451 35 34
  • 34 (a)
CG9452 35 34
  • 32 (a)
CG6656 35 34
  • 31 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002387 33
  • 48.71 (n)
worm
(Caenorhabditis elegans)
Secernentea pho-5 33 34
  • 44.01 (n)
R13H4.3 35
  • 33 (a)
T13B5.3 35
  • 33 (a)
F52E1.8 35
  • 31 (a)
T21B6.2 35
  • 31 (a)
B0361.7 35
  • 30 (a)
pho-14 34
  • 28 (a)
ManyToMany
pho-12 34
  • 26 (a)
ManyToMany
acp-5 34
  • 24 (a)
ManyToMany
pho-1 34
  • 24 (a)
ManyToMany
pho-10 34
  • 24 (a)
ManyToMany
pho-4 34
  • 24 (a)
ManyToMany
F26C11.1 34
  • 23 (a)
ManyToMany
pho-13 34
  • 23 (a)
ManyToMany
C27A2.12 34
  • 22 (a)
ManyToMany
pho-11 34
  • 22 (a)
ManyToMany
acp-1 34
  • 20 (a)
ManyToMany
acp-3 34
  • 19 (a)
ManyToMany
acp-2 34
  • 18 (a)
ManyToMany
acp-4 34
  • 18 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 34 (a)
OneToMany
Species where no ortholog for ACP2 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)
  • 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
rs1050244 Likely benign 47,238,926(+) GGTGG(C/T)GATTT nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime
rs4647760 Uncertain significance 47,239,000(+) TGGGA(A/C)TGGGA nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime
rs554676341 Uncertain significance 47,238,975(+) AGGGG(C/T)GCTGG nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime
rs886048363 Uncertain significance 47,239,183(+) TGCTC(-/AC)TTTTG nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime
rs1000214685 -- 47,250,638(+) TTTGC(A/C)CCTCT intron-variant, upstream-variant-2KB

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

Human Gene Mutation Database (HGMD)
ACP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ACP2 Gene

Disorders for ACP2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
lysosomal acid phosphatase deficiency
  • acid phosphatase deficiency
keratoconus
  • conical cornea
atrichia with papular lesions
  • apl
amyotrophic lateral sclerosis 8
  • amyotrophic lateral sclerosis type 8
amebiasis
  • amoebiasis
- 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 SN (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2008) 3 45 60
  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 DA (American journal of human genetics 2007) 3 22 60
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  4. The tyrosine motifs of Lamp 1 and LAP determine their direct and indirect targetting to lysosomes. (PMID: 11801736) Obermüller S … Höning S (Journal of cell science 2002) 3 22 60
  5. Structure of the human lysosomal acid phosphatase gene. (PMID: 2776754) Geier C … Pohlmann R (European journal of biochemistry 1989) 3 4 60

Products for ACP2 Gene

Sources for ACP2 Gene

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