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DMP1

Chr 4q22.1

dentin matrix acidic phosphoprotein 1

MANE:
ENST00000339673.11

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Hypophosphataemia or rickets

    BIALLELIC, autosomal or pseudoautosomal
  • Skeletal dysplasia

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal
  • Osteogenesis imperfecta

Disease associations (Open Targets)

  • autosomal recessive hypophosphatemic rickets

    0.67
  • hypophosphatemic rickets

    0.50
  • Dent disease

    0.39
  • brachydactyly type A1

    0.39
  • Acromesomelic dysplasia, Grebe type

    0.39
  • brachydactyly type A2

    0.39
  • brachydactyly type C

    0.39
  • Acromesomelic dysplasia, Hunter-Thomson type

    0.39
  • acromesomelic dysplasia 2A

    0.38
  • acromesomelic dysplasia 2B

    0.38

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

Protein function (UniProt)

Cyclin-D-binding Myb-like transcription factor 1

Transcriptional activator which activates the CDKN2A/ARF locus in response to Ras-Raf signaling, thereby promoting p53/TP53-dependent growth arrest (By similarity). Binds to the consensus sequence 5'-CCCG[GT]ATGT-3' (By similarity). Isoform 1 may cooperate with MYB to activate transcription of the ANPEP gene. Isoform 2 may antagonize transcriptional activation by isoform 1

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.