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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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ACP4
acid phosphatase 4
Chromosome 19 Β· 19q13.33
NCBI Gene: 93650Ensembl: ENSG00000142513.6HGNC: HGNC:14376UniProt: Q9BZG2
8PubMed Papers
21Diseases
0Drugs
12Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activityprotein tyrosine phosphatase activityreceptor tyrosine kinase bindingnegative regulation of protein processingHypoplastic amelogenesis imperfectaamelogenesis imperfecta, type ijamelogenesis imperfectaamelogenesis imperfecta type 1
✦AI Summary

ACP4 encodes acid phosphatase 4, a transmembrane protein belonging to the histidine acid phosphatase family that plays critical roles in dental enamel formation and neuronal signaling. During amelogenesis, ACP4 is most strongly expressed in secretory stage ameloblasts and localizes primarily at Tomes' processes, where it regulates appositional growth of dental enamel by processing and regulating enamel matrix proteins around the mineralization front apparatus 1. The protein exhibits acid phosphatase activity and may dephosphorylate receptor tyrosine kinases, potentially modulating neuronal signaling pathways 2. Recessive mutations in ACP4 cause non-syndromic hypoplastic amelogenesis imperfecta (AI1J), characterized by thin enamel with numerous ectopic mineralized nodules 1. Studies of ACP4-deficient mouse models demonstrate that loss of function leads to pathological ameloblast changes mid-way through the secretory stage, resulting in sporadic enamel ribbons that fail to elongate and aberrant needle-like crystal formation 1. Multiple disease-causing mutations have been identified in human families, including frameshift and missense variants that reduce protein expression, decrease homodimer formation ability, and diminish acid phosphatase activity 23. These findings establish ACP4 as essential for proper enamel mineralization and tooth development.

Sources cited
1
ACP4 expression in secretory stage ameloblasts, localization at Tomes' processes, role in enamel matrix protein regulation, and phenotypes in knockout mice
PMID: 36183038
2
Functional analysis of ACP4 mutations showing decreased protein expression, homodimer formation, and acid phosphatase activity
PMID: 34036831
3
Identification of novel ACP4 frameshift mutation causing hypoplastic amelogenesis imperfecta in canine models
PMID: 30877375
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
Hypoplastic amelogenesis imperfectaOpen Targets
0.77Strong
amelogenesis imperfecta, type ijOpen Targets
0.75Strong
amelogenesis imperfectaOpen Targets
0.18Weak
amelogenesis imperfecta type 1Open Targets
0.12Weak
Hypomaturation amelogenesis imperfectaOpen Targets
0.11Weak
amelogenesis imperfecta hypomaturation type 2A4Open Targets
0.07Suggestive
amelogenesis imperfecta type 3BOpen Targets
0.07Suggestive
amelogenesis imperfecta, IIa 1KOpen Targets
0.07Suggestive
keratosis pilaris atrophicansOpen Targets
0.07Suggestive
nephrolithiasisOpen Targets
0.07Suggestive
dentin dysplasia type IIOpen Targets
0.07Suggestive
amelogenesis imperfecta type 1AOpen Targets
0.07Suggestive
dentinogenesis imperfecta type 3Open Targets
0.07Suggestive
hypomaturation-hypoplastic amelogenesis imperfecta with taurodontismOpen Targets
0.06Suggestive
amelogenesis imperfecta, type 3AOpen Targets
0.06Suggestive
dentin dysplasia type IOpen Targets
0.06Suggestive
tooth agenesisOpen Targets
0.06Suggestive
dentinogenesis imperfecta type 2Open Targets
0.06Suggestive
fused mandibular incisorsOpen Targets
0.05Suggestive
tooth agenesis, selective, 7Open Targets
0.05Suggestive
Amelogenesis imperfecta 1JUniProt
Pathogenic Variants12
NM_033068.3(ACP4):c.331C>T (p.Arg111Cys)Pathogenic
Amelogenesis imperfecta, type 1J|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 111
NM_033068.3(ACP4):c.746C>T (p.Pro249Leu)Pathogenic
Amelogenesis imperfecta, type 1J
β˜…β˜†β˜†β˜†2026β†’ Residue 249
NM_033068.3(ACP4):c.845T>C (p.Met282Thr)Pathogenic
Amelogenesis imperfecta, type 1J
β˜…β˜†β˜†β˜†2026β†’ Residue 282
NM_033068.3(ACP4):c.435del (p.Val146fs)Pathogenic
Amelogenesis imperfecta, type 1J
β˜…β˜†β˜†β˜†2026β†’ Residue 146
NM_033068.3(ACP4):c.254T>C (p.Leu85Pro)Pathogenic
Amelogenesis imperfecta, type 1J
β˜…β˜†β˜†β˜†2026β†’ Residue 85
NM_033068.3(ACP4):c.645+1G>ALikely pathogenic
Amelogenesis imperfecta, type 1J
β˜…β˜†β˜†β˜†2023
NM_033068.3(ACP4):c.736G>A (p.Val246Met)Likely pathogenic
Amelogenesis imperfecta, type 1J
β˜…β˜†β˜†β˜†2023β†’ Residue 246
NM_033068.3(ACP4):c.227_244delinsA (p.Arg76fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 76
NM_033068.3(ACP4):c.397G>A (p.Glu133Lys)Pathogenic
Amelogenesis imperfecta, type 1J
β˜†β˜†β˜†β˜†2019β†’ Residue 133
NM_033068.3(ACP4):c.382G>C (p.Ala128Pro)Pathogenic
Amelogenesis imperfecta, type 1J
β˜†β˜†β˜†β˜†2019β†’ Residue 128
NM_033068.3(ACP4):c.226C>T (p.Arg76Cys)Pathogenic
Amelogenesis imperfecta, type 1J
β˜†β˜†β˜†β˜†2019β†’ Residue 76
NM_033068.3(ACP4):c.428C>T (p.Thr143Met)Pathogenic
Amelogenesis imperfecta, type 1J
β˜†β˜†β˜†β˜†2016β†’ Residue 143
View on ClinVar β†—
Related Genes
ENAMProtein interaction72%SSUH2Shared pathway25%SP6Shared pathway20%TMT1AShared pathway20%DENND5AShared pathway20%ZNF22Shared pathway20%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
11%
Brain
9%
Liver
6%
Lung
4%
Heart
0%
Gene Interaction Network
Click a node to explore
ACP4ENAMSSUH2SP6TMT1ADENND5AZNF22
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9BZG2
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.41LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.12 [0.89–1.41]
RankingsWhere ACP4 stands among ~20K protein-coding genes
  • #17,529of 20,598
    Most Researched8
  • #2,720of 5,498
    Most Pathogenic Variants12
  • #14,601of 17,882
    Most Constrained (LOEUF)1.41
Genes detectedACP4
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Enamel defects in Acp4
PMID: 36183038
Sci Rep Β· 2022
1.00
2
Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants.
PMID: 30877375
Hum Genet Β· 2019
0.90
3
Recessive Mutations in
PMID: 34036831
J Dent Res Β· 2022
0.80
4
Expression of antisense acyl carrier protein-4 reduces lipid content in Arabidopsis leaf tissue.
PMID: 12805604
Plant Physiol Β· 2003
0.70
5
A genetic model for the secretory stage of dental enamel formation.
PMID: 34715329
J Struct Biol Β· 2021
0.60