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RBM10

Chr Xp11.3

RNA binding motif protein 10

Aliases:
DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9
MANE:
ENST00000377604.8

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Clefting

    X-LINKED: hemizygous mutation in males, biallelic mutations in females
  • DDG2P

    X-LINKED: hemizygous mutation in males, biallelic mutations in females
  • Fetal anomalies

    X-LINKED: hemizygous mutation in males, biallelic mutations in females
  • Intellectual disability

    X-LINKED: hemizygous mutation in males, biallelic mutations in females
  • Limb disorders

    X-LINKED: hemizygous mutation in males, biallelic mutations in females

Disease associations (Open Targets)

  • TARP syndrome

    0.79
  • lung adenocarcinoma

    0.63
  • neurodegenerative disease

    0.53
  • pancreatic adenocarcinoma

    0.51
  • non-small cell lung carcinoma

    0.51
  • colorectal adenocarcinoma

    0.51
  • hereditary disease

    0.47
  • urinary bladder cancer

    0.40
  • bladder transitional cell carcinoma

    0.37
  • cleft palate

    0.37

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

Protein function (UniProt)

RNA-binding protein 10

Binds to ssRNA containing the consensus sequence 5'-AGGUAA-3' (PubMed:21256132). May be involved in post-transcriptional processing, most probably in mRNA splicing (PubMed:18315527). Binds to RNA homopolymers, with a preference for poly(G) and poly(U) and little for poly(A) (By similarity). May bind to specific miRNA hairpins (PubMed:28431233)

Curated MONDO disease pages that list RBM10 among their top associated genes.

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.