ACP2
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Also known as LAP
Summary
ACP2 (acid phosphatase 2, lysosomal, HGNC:123) is a protein-coding gene on chromosome 11p11.2, encoding Lysosomal acid phosphatase (P11117).
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.
Source: NCBI Gene 53 — RefSeq curated summary.
At a glance
- Gene–disease (curated): lysosomal acid phosphatase deficiency (Limited, GenCC)
- GWAS associations: 9
- Clinical variants (ClinVar): 83 total — 2 pathogenic
- MANE Select transcript:
NM_001610
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:123 |
| Approved symbol | ACP2 |
| Name | acid phosphatase 2, lysosomal |
| Location | 11p11.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | LAP |
| Ensembl gene | ENSG00000134575 |
| Ensembl biotype | protein_coding |
| OMIM | 171650 |
| Entrez | 53 |
Gene structure
Transcript identifiers
Ensembl transcripts: 24 — 16 protein_coding, 3 protein_coding_CDS_not_defined, 3 retained_intron, 2 nonsense_mediated_decay
ENST00000256997, ENST00000527256, ENST00000529444, ENST00000533929, ENST00000671941, ENST00000672073, ENST00000672075, ENST00000672166, ENST00000672351, ENST00000672636, ENST00000672728, ENST00000672787, ENST00000673184, ENST00000673511, ENST00000673562, ENST00000673604, ENST00000897033, ENST00000897034, ENST00000897035, ENST00000897036, ENST00000897037, ENST00000897038, ENST00000919384, ENST00000941444
RefSeq mRNA: 6 — MANE Select: NM_001610
NM_001302489, NM_001302490, NM_001302491, NM_001302492, NM_001357016, NM_001610
CCDS: CCDS76402, CCDS76403, CCDS76404, CCDS7928, CCDS91470
Canonical transcript exons
ENST00000672073 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003478978 | 47245305 | 47245394 |
| ENSE00003493017 | 47245682 | 47245834 |
| ENSE00003493827 | 47242723 | 47242898 |
| ENSE00003498171 | 47243018 | 47243124 |
| ENSE00003537582 | 47243239 | 47243321 |
| ENSE00003557803 | 47248038 | 47248133 |
| ENSE00003570317 | 47244735 | 47244867 |
| ENSE00003651530 | 47247641 | 47247727 |
| ENSE00003669745 | 47245474 | 47245572 |
| ENSE00003892063 | 47239302 | 47240249 |
| ENSE00003896112 | 47248676 | 47248814 |
Expression profiles
Bgee: expression breadth ubiquitous, 275 present calls, max score 95.20.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 41.3365 / max 424.9363, expressed in 1819 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 119561 | 40.3970 | 1819 |
| 119562 | 0.7530 | 293 |
| 119559 | 0.1411 | 79 |
| 119560 | 0.0454 | 28 |
Top tissues by expression
291 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right lobe of liver | UBERON:0001114 | 95.20 | gold quality |
| body of pancreas | UBERON:0001150 | 93.73 | gold quality |
| right adrenal gland | UBERON:0001233 | 93.12 | gold quality |
| left adrenal gland | UBERON:0001234 | 93.00 | gold quality |
| liver | UBERON:0002107 | 92.95 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 92.87 | gold quality |
| stromal cell of endometrium | CL:0002255 | 92.64 | gold quality |
| jejunal mucosa | UBERON:0000399 | 92.63 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 92.63 | gold quality |
| adrenal gland | UBERON:0002369 | 92.27 | gold quality |
| adrenal cortex | UBERON:0001235 | 92.07 | gold quality |
| adrenal tissue | UBERON:0018303 | 92.06 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 92.03 | gold quality |
| pancreas | UBERON:0001264 | 90.97 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 90.81 | gold quality |
| duodenum | UBERON:0002114 | 90.64 | gold quality |
| body of stomach | UBERON:0001161 | 90.57 | gold quality |
| spleen | UBERON:0002106 | 90.56 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 90.45 | gold quality |
| minor salivary gland | UBERON:0001830 | 90.29 | gold quality |
| metanephros cortex | UBERON:0010533 | 90.20 | gold quality |
| transverse colon | UBERON:0001157 | 90.18 | gold quality |
| prefrontal cortex | UBERON:0000451 | 90.07 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 90.01 | gold quality |
| parotid gland | UBERON:0001831 | 89.96 | gold quality |
| small intestine | UBERON:0002108 | 89.87 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 89.83 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 89.71 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 89.51 | gold quality |
| lymph node | UBERON:0000029 | 89.47 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
44 targeting ACP2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-188-3P | 100.00 | 68.76 | 1240 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-383-3P | 99.85 | 65.84 | 1359 |
| HSA-MIR-3156-3P | 99.76 | 66.72 | 939 |
| HSA-MIR-1200 | 99.71 | 70.42 | 1838 |
| HSA-MIR-3934-5P | 99.67 | 64.04 | 846 |
| HSA-MIR-1260A | 99.61 | 66.67 | 1098 |
| HSA-MIR-1260B | 99.61 | 66.67 | 1098 |
| HSA-MIR-6797-5P | 99.61 | 66.55 | 2084 |
| HSA-MIR-762 | 99.58 | 66.61 | 1994 |
| HSA-MIR-6716-5P | 99.56 | 68.62 | 1244 |
| HSA-MIR-4498 | 99.47 | 67.42 | 2360 |
| HSA-MIR-766-5P | 99.47 | 67.91 | 2225 |
| HSA-MIR-3612 | 99.45 | 66.02 | 1333 |
| HSA-MIR-650 | 99.45 | 65.77 | 1309 |
| HSA-MIR-5580-5P | 99.38 | 66.96 | 1139 |
| HSA-MIR-4505 | 99.27 | 67.81 | 2678 |
| HSA-MIR-3064-5P | 99.26 | 66.13 | 1497 |
| HSA-MIR-3085-3P | 99.26 | 66.16 | 1490 |
| HSA-MIR-6504-5P | 99.26 | 65.95 | 1487 |
| HSA-MIR-5787 | 99.22 | 67.86 | 2628 |
| HSA-MIR-8077 | 99.17 | 66.67 | 862 |
Literature-anchored findings (GeneRIF, showing 5)
- An enzymatically inactive allele of mouse Acp2 causes cerebellum abnormalities, growth retardation, hair-follicle abnormalities, and an ataxia-like phenotype. (PMID:15503243)
- 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. (PMID:28076332)
- 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) (PMID:29422769)
- Clinical and molecular evaluation of 13 Brazilian patients with Gomez-Lopez-Hernandez syndrome. (PMID:33381921)
- 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. (PMID:9228031)
Cross-species orthologs
19 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | acp2 | ENSDARG00000007244 |
| mus_musculus | Acp2 | ENSMUSG00000002103 |
| rattus_norvegicus | Acp2 | ENSRNOG00000013594 |
| drosophila_melanogaster | Acph-1 | FBGN0000032 |
| drosophila_melanogaster | CG9449 | FBGN0036875 |
| drosophila_melanogaster | CG9451 | FBGN0036876 |
| drosophila_melanogaster | CG9452 | FBGN0036877 |
| caenorhabditis_elegans | WBGENE00007328 | |
| caenorhabditis_elegans | WBGENE00007331 | |
| caenorhabditis_elegans | WBGENE00008801 | |
| caenorhabditis_elegans | WBGENE00008802 | |
| caenorhabditis_elegans | WBGENE00008804 | |
| caenorhabditis_elegans | WBGENE00009146 | |
| caenorhabditis_elegans | WBGENE00011879 | |
| caenorhabditis_elegans | WBGENE00015161 | |
| caenorhabditis_elegans | WBGENE00016152 | |
| caenorhabditis_elegans | WBGENE00022181 | |
| caenorhabditis_elegans | WBGENE00022770 | |
| caenorhabditis_elegans | WBGENE00206373 |
Paralogs (5): ACP3 (ENSG00000014257), ACP4 (ENSG00000142513), FRA10AC1 (ENSG00000148690), PXYLP1 (ENSG00000155893), ACP6 (ENSG00000162836)
Protein
Protein identifiers
Lysosomal acid phosphatase — P11117 (reviewed: P11117)
All UniProt accessions (9): A0A5F9ZH40, A0A5F9ZH82, A0A5F9ZHR7, A0A5F9ZI20, B7Z6U3, B7Z7D2, P11117, E9PHY0, E9PQY3
UniProt curated annotations — full annotation on UniProt →
Subcellular location. Lysosome membrane. Lysosome lumen.
Post-translational modifications. 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. N-glycosylated. The intermediates formed during enzymatic deglycosylation suggest that all eight predicted N-glycosylation sites are used.
Disease relevance. 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.
Similarity. Belongs to the histidine acid phosphatase family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P11117-1 | 1 | yes |
| P11117-2 | 2 |
RefSeq proteins (6): NP_001289418, NP_001289419, NP_001289420, NP_001289421, NP_001343945, NP_001601* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000560 | His_Pase_clade-2 | Family |
| IPR029033 | His_PPase_superfam | Homologous_superfamily |
| IPR033379 | Acid_Pase_AS | Active_site |
| IPR050645 | Histidine_acid_phosphatase | Family |
Pfam: PF00328
Catalyzed reactions (Rhea), 1 shown:
- a phosphate monoester + H2O = an alcohol + phosphate (RHEA:15017)
UniProt features (23 total): glycosylation site 8, disulfide bond 3, sequence variant 3, splice variant 2, topological domain 2, active site 2, signal peptide 1, chain 1, transmembrane region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P11117-F1 | 92.09 | 0.85 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (2): 42 (nucleophile); 287 (proton donor)
Disulfide bonds (3): 159–370, 212–310, 345–349
Glycosylation sites (8): 177, 191, 267, 322, 331, 92, 133, 167
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 187 (showing top):
MULLIGHAN_NPM1_SIGNATURE_3_UP, GOBP_VACUOLE_ORGANIZATION, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GOCC_VACUOLAR_MEMBRANE, ROVERSI_GLIOMA_COPY_NUMBER_UP, KEGG_LYSOSOME, ACEVEDO_LIVER_TUMOR_VS_NORMAL_ADJACENT_TISSUE_DN, MODULE_256, HOSHIDA_LIVER_CANCER_LATE_RECURRENCE_DN, WANG_CISPLATIN_RESPONSE_AND_XPC_DN, NRF2_01, GOBP_LYTIC_VACUOLE_ORGANIZATION, JOSEPH_RESPONSE_TO_SODIUM_BUTYRATE_DN, MODULE_333, CETS1P54_01
GO Biological Process (2): skeletal system development (GO:0001501), lysosome organization (GO:0007040)
GO Molecular Function (3): acid phosphatase activity (GO:0003993), protein binding (GO:0005515), hydrolase activity (GO:0016787)
GO Cellular Component (5): lysosome (GO:0005764), lysosomal membrane (GO:0005765), membrane (GO:0016020), lysosomal lumen (GO:0043202), extracellular exosome (GO:0070062)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| lysosome | 2 |
| system development | 1 |
| lytic vacuole organization | 1 |
| phosphatase activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
| lytic vacuole | 1 |
| lytic vacuole membrane | 1 |
| cellular anatomical structure | 1 |
| vacuolar lumen | 1 |
| extracellular vesicle | 1 |
Protein interactions and networks
STRING
0 interactions, top by confidence (×1000):
IntAct
117 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FBXO6 | MAN2B1 | psi-mi:“MI:0914”(association) | 0.640 |
| TRHR | ACP2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ATN1 | ACP2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PAK1 | ACP2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KLK6 | ACP2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GAB2 | ACP2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC7A1 | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC39A5 | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| LPAR1 | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| IPPK | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| ST8SIA3 | KLRG2 | psi-mi:“MI:0914”(association) | 0.530 |
| HTR2C | KLRG2 | psi-mi:“MI:0914”(association) | 0.530 |
| ADGRG5 | KLRG2 | psi-mi:“MI:0914”(association) | 0.530 |
| S1PR2 | PALM3 | psi-mi:“MI:0914”(association) | 0.530 |
| BTNL3 | FAM171A2 | psi-mi:“MI:0914”(association) | 0.530 |
| SPPL2B | UQCRQ | psi-mi:“MI:0914”(association) | 0.530 |
| SPRING1 | PLSCR1 | psi-mi:“MI:0914”(association) | 0.530 |
| ATP6V0A2 | B4GALT3 | psi-mi:“MI:0914”(association) | 0.530 |
| CBX1 | KPNA3 | psi-mi:“MI:0914”(association) | 0.530 |
| FBXO2 | TMEM131L | psi-mi:“MI:0914”(association) | 0.530 |
| SLC31A1 | C2orf72 | psi-mi:“MI:0914”(association) | 0.530 |
| TMEM192 | STXBP3 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (114): ACP2 (Affinity Capture-MS), ACP2 (Affinity Capture-MS), ACP2 (Affinity Capture-MS), ACP2 (Affinity Capture-MS), ACP2 (Affinity Capture-MS), ACP2 (Affinity Capture-MS), ACP2 (Affinity Capture-MS), ACP2 (Affinity Capture-MS), ACP2 (Affinity Capture-MS), ACP2 (Affinity Capture-MS), ACP2 (Affinity Capture-MS), ACP2 (Affinity Capture-MS), ACP2 (Affinity Capture-MS), ACP2 (Affinity Capture-MS), ACP2 (Affinity Capture-MS)
ESM2 similar proteins: A0A2D0TC04, A6H730, A6H757, B1H1P9, B6EWW8, D2GZV9, E1BPW0, E1C1L6, F8S0Z7, J3SBP3, J3SEZ3, O14638, O35409, O75356, P06802, P07686, P0DQQ4, P11117, P15309, P15396, P20060, P20611, P20646, P22413, P24638, P24822, P49614, P58242, P70627, P97675, Q0P5F0, Q29548, Q3KQG9, Q3MI05, Q3U4B4, Q4R5N9, Q5NVF6, Q5R5M5, Q5R8C0, Q5VXJ0
Diamond homologs: A6H730, B1H1P9, D3YTS9, P11117, P15309, P20611, P20646, P24638, Q0P5F0, Q10944, Q19076, Q3KQG9, Q4R5N9, Q5BLY5, Q5NVF6, Q5R8C0, Q8CE08, Q9BZG2, Q09451, A6H757, Q09448, Q09549, Q8BP40, Q9NPH0
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 138 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Lysosphingolipid and LPA receptors | 6 | 51.9× | 5e-07 |
| Class A/1 (Rhodopsin-like receptors) | 9 | 7.6× | 8e-04 |
| GPCR ligand binding | 9 | 6.6× | 2e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway | 7 | 12.7× | 1e-03 |
| phospholipase C-activating G protein-coupled receptor signaling pathway | 8 | 8.7× | 1e-03 |
| G protein-coupled receptor signaling pathway | 13 | 3.9× | 8e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
83 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 0 |
| Uncertain significance | 59 |
| Likely benign | 5 |
| Benign | 6 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 151005 | GRCh38/hg38 11p11.2(chr11:47210659-47427331)x1 | Pathogenic |
| 4076016 | GRCh37/hg19 11p11.2(chr11:47219637-47454749)x1 | Pathogenic |
SpliceAI
1684 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:47240256:A:AC | acceptor_gain | 1.0000 |
| 11:47240256:A:C | acceptor_gain | 1.0000 |
| 11:47242894:AATTC:A | acceptor_gain | 1.0000 |
| 11:47242896:TTC:T | acceptor_gain | 1.0000 |
| 11:47242899:C:CC | acceptor_gain | 1.0000 |
| 11:47242899:CTGAG:C | acceptor_loss | 1.0000 |
| 11:47242900:T:C | acceptor_loss | 1.0000 |
| 11:47242907:C:CT | acceptor_gain | 1.0000 |
| 11:47242908:G:T | acceptor_gain | 1.0000 |
| 11:47242910:C:CT | acceptor_gain | 1.0000 |
| 11:47243013:CTCA:C | donor_loss | 1.0000 |
| 11:47243014:TCA:T | donor_loss | 1.0000 |
| 11:47243015:CA:C | donor_loss | 1.0000 |
| 11:47243016:A:AC | donor_gain | 1.0000 |
| 11:47243016:AC:A | donor_gain | 1.0000 |
| 11:47243016:ACCC:A | donor_loss | 1.0000 |
| 11:47243017:C:CC | donor_gain | 1.0000 |
| 11:47243017:CC:C | donor_gain | 1.0000 |
| 11:47243027:T:TA | donor_gain | 1.0000 |
| 11:47243120:TCGTG:T | acceptor_gain | 1.0000 |
| 11:47243121:CGTG:C | acceptor_gain | 1.0000 |
| 11:47243121:CGTGC:C | acceptor_gain | 1.0000 |
| 11:47243122:GTG:G | acceptor_gain | 1.0000 |
| 11:47243122:GTGC:G | acceptor_loss | 1.0000 |
| 11:47243123:TG:T | acceptor_gain | 1.0000 |
| 11:47243123:TGCT:T | acceptor_loss | 1.0000 |
| 11:47243124:GCTG:G | acceptor_loss | 1.0000 |
| 11:47243125:C:A | acceptor_loss | 1.0000 |
| 11:47243125:C:CC | acceptor_gain | 1.0000 |
| 11:47243126:T:A | acceptor_loss | 1.0000 |
AlphaMissense
2744 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:47243120:T:A | D287V | 0.999 |
| 11:47243121:C:G | D287H | 0.998 |
| 11:47245793:A:C | S113R | 0.998 |
| 11:47245793:A:T | S113R | 0.998 |
| 11:47245795:T:G | S113R | 0.998 |
| 11:47245820:G:C | S104R | 0.998 |
| 11:47245820:G:T | S104R | 0.998 |
| 11:47245822:T:G | S104R | 0.998 |
| 11:47243120:T:G | D287A | 0.997 |
| 11:47248065:C:A | W61C | 0.997 |
| 11:47248065:C:G | W61C | 0.997 |
| 11:47243120:T:C | D287G | 0.996 |
| 11:47245308:A:C | C212W | 0.996 |
| 11:47245309:C:T | C212Y | 0.996 |
| 11:47245548:A:G | C159R | 0.996 |
| 11:47245792:C:G | A114P | 0.996 |
| 11:47247724:C:A | G72W | 0.996 |
| 11:47248067:A:G | W61R | 0.996 |
| 11:47248067:A:T | W61R | 0.996 |
| 11:47248114:C:G | R45P | 0.996 |
| 11:47248120:C:A | G43V | 0.996 |
| 11:47248122:A:C | H42Q | 0.996 |
| 11:47248122:A:T | H42Q | 0.996 |
| 11:47243121:C:A | D287Y | 0.995 |
| 11:47243122:G:C | H286Q | 0.995 |
| 11:47243122:G:T | H286Q | 0.995 |
| 11:47243124:G:C | H286D | 0.995 |
| 11:47245779:A:G | L118P | 0.995 |
| 11:47248045:A:G | L68S | 0.995 |
| 11:47248115:G:T | R45S | 0.995 |
dbSNP variants (sampled 300 via entrez): RS1000214685 (11:47250638 A>C), RS1000376431 (11:47244326 C>A,T), RS1000998483 (11:47244101 T>C), RS1001114591 (11:47243708 G>GCCCT), RS1001182545 (11:47249389 T>A,C), RS1001286007 (11:47250589 CCTT>C), RS1002324150 (11:47239258 C>A,G), RS1002598624 (11:47245996 G>T), RS1003051911 (11:47241378 A>G), RS1003191238 (11:47247420 G>A), RS1003194632 (11:47246173 G>A,C), RS1003252203 (11:47241210 G>A), RS1003799278 (11:47246854 C>T), RS1003929660 (11:47243918 C>T), RS1004006501 (11:47243648 C>G,T)
Disease associations
OMIM: gene MIM:171650 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| lysosomal acid phosphatase deficiency | Limited | Autosomal recessive |
Mondo (1): lysosomal acid phosphatase deficiency (MONDO:0008705)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
9 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004521_165 | Autism spectrum disorder or schizophrenia | 3.000000e-08 |
| GCST005232_56 | Neuroticism | 1.000000e-16 |
| GCST006611_78 | HDL cholesterol | 8.000000e-45 |
| GCST006940_77 | Neurociticism | 2.000000e-10 |
| GCST006943_9 | Feeling miserable | 5.000000e-09 |
| GCST006949_2 | Suffering from nerves | 4.000000e-16 |
| GCST007825_4 | Alzheimer’s disease or fasting glucose levels (pleiotropy) | 3.000000e-16 |
| GCST010002_238 | Refractive error | 2.000000e-14 |
| GCST90020026_776 | Hip index | 1.000000e-09 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007660 | neuroticism measurement |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| EFO:0009598 | feeling miserable measurement |
| EFO:0008039 | BMI-adjusted hip circumference |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C562645 | Acid Phosphatase Deficiency (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs11039149 | ACP2, NR1H3 | 3 | 2.75 | 1 | atenolol;verapamil |
CTD chemical–gene interactions
41 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects expression, increases expression | 3 |
| Tobacco Smoke Pollution | affects expression | 2 |
| Cyclosporine | decreases expression | 2 |
| GSK-J4 | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| 2-bromopalmitate | decreases reaction, increases abundance, increases palmitoylation | 1 |
| ferrous chloride | decreases expression | 1 |
| pyrene | affects expression, affects cotreatment | 1 |
| phenanthrene | affects cotreatment, affects expression | 1 |
| naphthalene | affects expression, affects cotreatment | 1 |
| anthracene | affects expression, affects cotreatment | 1 |
| 2,3-dimethoxy-1,4-naphthoquinone | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| bisphenol B | increases expression | 1 |
| 14-deoxy-11,12-didehydroandrographolide | decreases expression | 1 |
| abrine | increases expression | 1 |
| bisphenol S | increases expression | 1 |
| LDN 193189 | affects cotreatment, increases expression | 1 |
| bisphenol AF | increases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Antimony | decreases expression | 1 |
| Antimony Potassium Tartrate | decreases expression | 1 |
| Cadmium | decreases reaction, increases abundance, increases palmitoylation | 1 |
| Carbamazepine | affects expression | 1 |
| Chromium | decreases expression | 1 |
| Dimethylnitrosamine | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: lysosomal acid phosphatase deficiency
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Alzheimer disease, lysosomal acid phosphatase deficiency