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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.
DMP1
dentin matrix acidic phosphoprotein 1
Chromosome 4 Β· 4q22.1
NCBI Gene: 1758Ensembl: ENSG00000152592.15HGNC: HGNC:2932UniProt: Q13316
74PubMed Papers
21Diseases
0Drugs
18Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
calcium ion bindingextracellular matrix organizationextracellular matrixextracellular matrix bindingautosomal recessive hypophosphatemic ricketshypophosphatemic ricketsgoutAcromesomelic dysplasia, Grebe type
✦AI Summary

DMP1 (dentin matrix acidic phosphoprotein 1) is a multifunctional protein with critical roles in bone mineralization and phosphate homeostasis. The protein exhibits a dual function during osteoblast differentiation: in undifferentiated osteoblasts, unphosphorylated DMP1 acts as a transcriptional component in the nucleus to activate osteoblast-specific genes like osteocalcin, while during osteoblast-to-osteocyte transition, it becomes phosphorylated and is exported to the extracellular matrix where it regulates hydroxyapatite nucleation 1. DMP1 is produced specifically by osteocytes and participates in bone matrix mineralization through its calcium-binding capacity due to its highly acidic nature 1. The protein plays a crucial role in systemic phosphate regulation by restraining osteocytic FGF23 production 12. Loss-of-function mutations in DMP1 cause autosomal recessive hypophosphatemic rickets (ARHR), characterized by increased FGF23 expression and impaired bone mineralization 12. Recent studies demonstrate that DMP1 supplementation can lower circulating FGF23 levels and improve bone mineralization in CKD models 3. Additionally, DMP1 forms complexes with GRP78 receptor and undergoes endocytic trafficking to promote osteogenic differentiation in periodontal ligament stem cells 4.

Sources cited
1
DMP1 is produced by osteocytes, participates in mineralization through calcium binding, and regulates FGF23 production
PMID: 22549196
2
DMP1 mutations increase FGF23 synthesis and enhance renal phosphate excretion
PMID: 18660670
3
DMP1 supplementation lowers FGF23 levels and improves bone mineralization in CKD
PMID: 34331667
4
DMP1 forms complexes with GRP78 and undergoes trafficking to promote osteogenic differentiation
PMID: 31572220
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
autosomal recessive hypophosphatemic ricketsOpen Targets
0.67Moderate
hypophosphatemic ricketsOpen Targets
0.50Moderate
goutOpen Targets
0.40Moderate
Acromesomelic dysplasia, Grebe typeOpen Targets
0.38Weak
acromesomelic dysplasia 2AOpen Targets
0.38Weak
acromesomelic dysplasia 2C, Hunter-Thompson typeOpen Targets
0.38Weak
Acromesomelic dysplasia, Hunter-Thomson typeOpen Targets
0.38Weak
osteoarthritisOpen Targets
0.37Weak
skeletal dysplasiaOpen Targets
0.37Weak
acromesomelic dysplasia 2BOpen Targets
0.37Weak
brachydactyly type A1Open Targets
0.37Weak
brachydactyly type A2Open Targets
0.37Weak
brachydactyly type COpen Targets
0.37Weak
multiple synostoses syndrome 2Open Targets
0.37Weak
symphalangism, proximal, 1BOpen Targets
0.37Weak
diabetes mellitusOpen Targets
0.32Weak
bladder calculusOpen Targets
0.28Weak
nephrolithiasisOpen Targets
0.28Weak
coronary atherosclerosisOpen Targets
0.24Weak
genetic disorderOpen Targets
0.19Weak
Hypophosphatemic rickets, autosomal recessive, 1UniProt
Pathogenic Variants18
NM_004407.4(DMP1):c.403G>T (p.Gly135Ter)Pathogenic
Hypophosphatemic rickets, autosomal recessive, 1|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 135
NM_004407.4(DMP1):c.1A>G (p.Met1Val)Pathogenic
Hypophosphatemic rickets, autosomal recessive, 1|not provided|not specified
β˜…β˜…β˜†β˜†2024β†’ Residue 1
NM_004407.4(DMP1):c.103-1G>ALikely pathogenic
Hypophosphatemic rickets, autosomal recessive, 1|not provided
β˜…β˜…β˜†β˜†2024
NM_004407.4(DMP1):c.55-1G>CPathogenic
Hypophosphatemic rickets, autosomal recessive, 1|not provided
β˜…β˜…β˜†β˜†2023
NM_004407.4(DMP1):c.273del (p.Ser92fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 92
NM_004407.4(DMP1):c.54+1G>APathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_004407.4(DMP1):c.4A>T (p.Lys2Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 2
NM_004407.4(DMP1):c.534del (p.Glu179fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 179
NM_004407.4(DMP1):c.1288C>T (p.Gln430Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 430
NM_004407.4(DMP1):c.683dup (p.Asn229fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 229
NM_004407.4(DMP1):c.55-2A>TPathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_004407.4(DMP1):c.184-1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2023
NM_004407.4(DMP1):c.2T>A (p.Met1Lys)Pathogenic
Hypophosphatemic rickets
β˜…β˜†β˜†β˜†2022β†’ Residue 1
NM_004407.4(DMP1):c.445G>T (p.Glu149Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 149
NM_004407.4(DMP1):c.98G>A (p.Trp33Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2018β†’ Residue 33
NM_004407.4(DMP1):c.979C>T (p.Gln327Ter)Likely pathogenic
Hypophosphatemic rickets
β˜…β˜†β˜†β˜†2017β†’ Residue 327
NM_004407.4(DMP1):c.362del (p.Pro121fs)Pathogenic
Hypophosphatemic rickets, autosomal recessive, 1
β˜…β˜†β˜†β˜†2015β†’ Residue 121
NM_004407.4(DMP1):c.1485_1491del (p.Tyr496fs)Pathogenic
Hypophosphatemic rickets, autosomal recessive, 1
β˜†β˜†β˜†β˜†2006β†’ Residue 496
View on ClinVar β†—
Related Genes
SPP1Protein interaction99%ITGAVProtein interaction98%PHEXProtein interaction98%PTHProtein interaction98%BGLAPProtein interaction97%RUNX2Protein interaction93%
Tissue Expression6 tissues
Lung
100%
Heart
0%
Brain
0%
Bone Marrow
0%
Ovary
0%
Liver
0%
Gene Interaction Network
Click a node to explore
DMP1SPP1ITGAVPHEXPTHBGLAPRUNX2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q13316
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.21LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.71 [0.44–1.21]
RankingsWhere DMP1 stands among ~20K protein-coding genes
  • #6,390of 20,598
    Most Researched74
  • #2,285of 5,498
    Most Pathogenic Variants18
  • #12,707of 17,882
    Most Constrained (LOEUF)1.21
Genes detectedDMP1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
The Role of DMP1 in CKD-MBD.
PMID: 34331667
Curr Osteoporos Rep Β· 2021
1.00
2
Dmp1 and tumor suppression.
PMID: 17237816
Oncogene Β· 2007
0.90
3
Cloning, purification and characterization of human dentine matrix protein 1(DMP1).
PMID: 37520603
Saudi Dent J Β· 2023
0.80
4
[Osteocyte and DMP1].
PMID: 22549196
Clin Calcium Β· 2012
0.70
5
c-MYB and DMTF1 in Cancer.
PMID: 30599775
Cancer Invest Β· 2019
0.60