HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ACP5
acid phosphatase 5, tartrate resistant
Chromosome 19 Β· 19p13.2
NCBI Gene: 54Ensembl: ENSG00000102575.15HGNC: HGNC:124UniProt: P13686
112PubMed Papers
21Diseases
0Drugs
38Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
ferric iron bindingferrous iron bindingacid phosphatase activitybone resorptionSpondyloenchondrodysplasia with immune dysregulationgenetic disordertype 1 interferonopathyAlzheimer disease
✦AI Summary

ACP5 (acid phosphatase 5, tartrate-resistant) is a multifunctional enzyme with critical roles in bone metabolism and immune regulation. Primarily, ACP5 dephosphorylates skeletal phosphoproteins including osteopontin and bone sialoprotein, and is expressed by osteoclasts, macrophages, and dendritic cells 1. Mechanistically, ACP5 expression is regulated by RANKL through NFATc1 and c-Fos pathways 2, and its phosphatase activity on Ξ²-catenin promotes fibroblast differentiation and proliferation in pulmonary fibrosis 3. ACP5 also regulates macrophage/microglia polarization and proinflammatory responses 4. Disease relevance spans skeletal and inflammatory disorders. Elevated ACP5 levels correlate with idiopathic pulmonary fibrosis severity 3, and ACP5 inhibition protects against bleomycin-induced lung fibrosis and osteoporosis 5 6. In acute ischemic stroke, ACP5 promotes macrophage/microglia-driven neuroinflammation, and its inhibition by quercetagetin ameliorates brain injury 4. Clinically, ACP5 serves as a therapeutic target. ACP5 silencing, pharmacological inhibition, or specific inhibitors (including natural products) represent promising approaches for treating pulmonary fibrosis, osteoporosis, and stroke 3 4. Notably, ACP5 functions beyond boneβ€”contributing to immune cell biology, oxidative stress regulation, and inflammatory diseasesβ€”suggesting broader therapeutic potential.

Sources cited
1
ACP5 levels increased in IPF patients and mouse models; ACP5 dephosphorylates Ξ²-catenin to promote fibroblast differentiation; ACP5 inhibition reverses established lung fibrosis
PMID: 35013220
2
ACP5/TRAP expressed by osteoclasts, macrophages, and dendritic cells; degrades osteopontin; roles in bone mineralization, immune cell maturation, and Th1 responses
PMID: 18365835
3
ACP5 is multifunctional protein involved in ROS generation, bone development, osteoclast activity; RANKL increases ACP5 expression through NFATc1 and c-Fos
PMID: 29637867
4
ACP5 expression suppressed during osteoclastogenesis inhibition; reduced osteoclast numbers and bone loss in osteoporosis models
PMID: 33176281
5
ACP5 expression regulated by FOXM1 upstream transcription factor; ACP5 inhibition reduces osteoclast ROS and mitochondrial function
PMID: 37183806
6
ACP5 upregulated in acute ischemic stroke; promotes macrophage/microglia proinflammatory responses; ACP5 inhibition by quercetagetin ameliorates stroke injury and neuroinflammation
PMID: 40972264
Disease Associationsβ“˜21
Spondyloenchondrodysplasia with immune dysregulationOpen Targets
0.82Strong
genetic disorderOpen Targets
0.47Moderate
type 1 interferonopathyOpen Targets
0.46Moderate
Alzheimer diseaseOpen Targets
0.35Weak
Parkinson diseaseOpen Targets
0.29Weak
neurodegenerative diseaseOpen Targets
0.29Weak
multiple sclerosisOpen Targets
0.29Weak
lysosomal storage diseaseOpen Targets
0.28Weak
thrombophiliaOpen Targets
0.22Weak
Abnormality of the skeletal systemOpen Targets
0.13Weak
neoplasmOpen Targets
0.11Weak
breast cancerOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.09Suggestive
rheumatoid arthritisOpen Targets
0.09Suggestive
pulmonary fibrosisOpen Targets
0.08Suggestive
lung adenocarcinomaOpen Targets
0.08Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.08Suggestive
diabetes mellitusOpen Targets
0.07Suggestive
Intermediate osteopetrosisOpen Targets
0.07Suggestive
colorectal carcinomaOpen Targets
0.07Suggestive
Spondyloenchondrodysplasia with immune dysregulationUniProt
Pathogenic Variants38
NM_001611.5(ACP5):c.738C>A (p.Tyr246Ter)Pathogenic
Spondyloenchondrodysplasia with immune dysregulation|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 246
NM_001611.5(ACP5):c.643G>A (p.Gly215Arg)Pathogenic
Spondyloenchondrodysplasia with immune dysregulation|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 215
NM_001611.5(ACP5):c.325G>A (p.Gly109Arg)Pathogenic
Spondyloenchondrodysplasia with immune dysregulation|Inborn genetic diseases|ACP5-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 109
NM_001611.5(ACP5):c.799del (p.Ser267fs)Pathogenic
Spondyloenchondrodysplasia with immune dysregulation|ACP5-related disorder
β˜…β˜…β˜†β˜†2024β†’ Residue 267
NM_001611.5(ACP5):c.526C>T (p.Arg176Ter)Pathogenic
Inborn genetic diseases|Spondyloenchondrodysplasia with immune dysregulation
β˜…β˜…β˜†β˜†2024β†’ Residue 176
NM_001611.5(ACP5):c.772_790del (p.Ser258fs)Pathogenic
Spondyloenchondrodysplasia with immune dysregulation
β˜…β˜…β˜†β˜†2024β†’ Residue 258
NM_001611.5(ACP5):c.369C>A (p.Tyr123Ter)Pathogenic
not provided|Spondyloenchondrodysplasia with immune dysregulation
β˜…β˜…β˜†β˜†2024β†’ Residue 123
NM_001611.5(ACP5):c.721G>A (p.Asp241Asn)Pathogenic
Spondyloenchondrodysplasia with immune dysregulation
β˜…β˜†β˜†β˜†2025β†’ Residue 241
NM_001611.5(ACP5):c.765C>G (p.Tyr255Ter)Pathogenic
Spondyloenchondrodysplasia with immune dysregulation
β˜…β˜†β˜†β˜†2025β†’ Residue 255
NM_001611.5(ACP5):c.71dup (p.Ala25fs)Pathogenic
Spondyloenchondrodysplasia with immune dysregulation
β˜…β˜†β˜†β˜†2025β†’ Residue 25
NM_001611.5(ACP5):c.550C>T (p.Gln184Ter)Pathogenic
Spondyloenchondrodysplasia with immune dysregulation
β˜…β˜†β˜†β˜†2025β†’ Residue 184
NM_001611.5(ACP5):c.372dup (p.Lys125Ter)Pathogenic
Spondyloenchondrodysplasia with immune dysregulation
β˜…β˜†β˜†β˜†2025β†’ Residue 125
NM_001611.5(ACP5):c.566del (p.Lys189fs)Likely pathogenic
Spondyloenchondrodysplasia with immune dysregulation
β˜…β˜†β˜†β˜†2025β†’ Residue 189
NM_001611.5(ACP5):c.618C>A (p.Tyr206Ter)Pathogenic
Spondyloenchondrodysplasia with immune dysregulation
β˜…β˜†β˜†β˜†2025β†’ Residue 206
NM_001611.5(ACP5):c.712T>C (p.Cys238Arg)Pathogenic
Spondyloenchondrodysplasia with immune dysregulation
β˜…β˜†β˜†β˜†2025β†’ Residue 238
NM_001611.5(ACP5):c.372_373insC (p.Lys125fs)Pathogenic
Spondyloenchondrodysplasia with immune dysregulation
β˜…β˜†β˜†β˜†2024β†’ Residue 125
NM_001611.5(ACP5):c.250_251del (p.Lys84fs)Pathogenic
Spondyloenchondrodysplasia with immune dysregulation
β˜…β˜†β˜†β˜†2024β†’ Residue 84
NM_001611.5(ACP5):c.791T>A (p.Met264Lys)Pathogenic
Spondyloenchondrodysplasia with immune dysregulation
β˜…β˜†β˜†β˜†2024β†’ Residue 264
NM_001611.5(ACP5):c.136del (p.Arg46fs)Pathogenic
Spondyloenchondrodysplasia with immune dysregulation
β˜…β˜†β˜†β˜†2024β†’ Residue 46
NM_001611.5(ACP5):c.710_718del (p.Leu237_Gly239del)Pathogenic
Spondyloenchondrodysplasia with immune dysregulation
β˜…β˜†β˜†β˜†2024β†’ Residue 237
View on ClinVar β†—
Related Genes
TNFSF11Protein interaction96%NFATC1Protein interaction95%ENPP1Protein interaction93%CTSKProtein interaction92%RFKProtein interaction92%BLVRBProtein interaction91%
Tissue Expression6 tissues
Lung
100%
Ovary
16%
Liver
13%
Bone Marrow
11%
Heart
3%
Brain
3%
Gene Interaction Network
Click a node to explore
ACP5TNFSF11NFATC1ENPP1CTSKRFKBLVRB
PROTEIN STRUCTURE
Preparing viewer…
PDB2BQ8 Β· 2.20 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.14LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.82 [0.59–1.14]
RankingsWhere ACP5 stands among ~20K protein-coding genes
  • #4,214of 20,598
    Most Researched112 Β· top quartile
  • #1,590of 5,498
    Most Pathogenic Variants38
  • #11,825of 17,882
    Most Constrained (LOEUF)1.14
Genes detectedACP5
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Tartrate-resistant acid phosphatase 5 promotes pulmonary fibrosis by modulating Ξ²-catenin signaling.
PMID: 35013220
Nat Commun Β· 2022
1.00
2
MAPK1/3 kinase-dependent ULK1 degradation attenuates mitophagy and promotes breast cancer bone metastasis.
PMID: 33213267
Autophagy Β· 2021
0.90
3
Tartrate-resistant acid phosphatase (TRAP) and the osteoclast/immune cell dichotomy.
PMID: 18365835
Autoimmunity Β· 2008
0.80
4
Structure of active human telomerase with telomere shelterin protein TPP1.
PMID: 35418675
Nature Β· 2022
0.70
5
Puerarin alleviates osteoporosis in the ovariectomy-induced mice by suppressing osteoclastogenesis via inhibition of TRAF6/ROS-dependent MAPK/NF-ΞΊB signaling pathways.
PMID: 33176281
Aging (Albany NY) Β· 2020
0.60