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GAS2L2

Chr 17q12

growth arrest specific 2 like 2

Aliases:
GAR17
MANE:
ENST00000604641.6

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Primary ciliary disorders

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

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • primary ciliary dyskinesia

    0.60
  • upper respiratory tract disorder

    0.27
  • non-suppurative otitis media

    0.27
  • middle ear disorder

    0.27
  • Abnormal mastoid morphology

    0.27
  • chronic rhinosinusitis

    0.27
  • sinusitis

    0.27
  • Congenital pulmonary alveolar proteinosis

    0.06
  • Neonatal acute respiratory distress with surfactant metabolism deficiency

    0.06
  • Heterotaxia

    0.06

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

Protein function (UniProt)

GAS2-like protein 2

Involved in the cross-linking of microtubules and microfilaments (PubMed:12584248, PubMed:24706950). Regulates microtubule dynamics and stability by interacting with microtubule plus-end tracking proteins, such as MAPRE1, to regulate microtubule growth along actin stress fibers (PubMed:24706950). Enhances ADORA2-mediated adenylyl cyclase activation by acting as a scaffold to recruit trimeric G protein complexes to ADORA2A (By similarity). Regulates ciliary orientation and performance in cells located in the airway (PubMed:30665704)

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.