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MCIDAS

Chr 5q11.2

multiciliate differentiation and DNA synthesis associated cell cycle protein

Aliases:
MCI, IDAS
MANE:
ENST00000513312.3

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Primary ciliary disorders

    BIALLELIC, autosomal or pseudoautosomal
  • Respiratory ciliopathies including non-CF bronchiectasis

    BIALLELIC, autosomal or pseudoautosomal
  • Rare multisystem ciliopathy disorders

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • primary ciliary dyskinesia

    0.79
  • Hydrocephalus

    0.38
  • arachnoid cyst

    0.37
  • neurodegenerative disease

    0.28
  • hereditary disease

    0.19
  • autism

    0.05
  • citrullinemia type II

    0.04
  • X-linked adrenoleukodystrophy

    0.04
  • 15q11q13 microduplication syndrome

    0.04
  • ciliopathy

    0.03

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

Protein function (UniProt)

Multicilin

Transcription regulator specifically required for multiciliate cell differentiation (PubMed:25048963). Acts in a multiprotein complex containing E2F4 and E2F5 that binds and activates genes required for centriole biogenesis. Required for the deuterosome-mediated acentriolar pathway (PubMed:25048963). Plays a role in mitotic cell cycle progression by promoting cell cycle exit. Modulates GMNN activity by reducing its affinity for CDT1 (PubMed:21543332, PubMed:24064211)

Curated MONDO disease pages that list MCIDAS 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.