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DSPP

Chr 4q22.1

dentin sialophosphoprotein

Aliases:
DMP3
MANE:
ENST00000651931.1

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Monogenic hearing loss

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Amelogenesis imperfecta

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Fetal anomalies

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Intellectual disability

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Osteogenesis imperfecta

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Skeletal dysplasia

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • dentinogenesis imperfecta type 2

    0.78
  • deafness, autosomal dominant 39, with dentinogenesis imperfecta 1

    0.71
  • dentinogenesis imperfecta type 3

    0.70
  • dentin dysplasia type II

    0.62
  • dentinogenesis imperfecta

    0.57
  • Pulp calcification

    0.50
  • hereditary disease

    0.45
  • gout

    0.40
  • atypical dentin dysplasia due to SMOC2 deficiency

    0.39
  • hearing loss disorder

    0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Dentin sialophosphoprotein

DSP may be an important factor in dentinogenesis. DPP may bind high amount of calcium and facilitate initial mineralization of dentin matrix collagen as well as regulate the size and shape of the crystals

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.