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ROBO2

Chr 3p12.3

roundabout guidance receptor 2

Aliases:
KIAA1568
MANE:
ENST00000696593.1

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • CAKUT

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Fetal anomalies

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Unexplained kidney failure in young people

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Unexplained young onset end-stage renal disease - additional genes

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • familial vesicoureteral reflux

    0.65
  • neurodegenerative disease

    0.49
  • Abnormality of the skeletal system

    0.43
  • type 2 diabetes mellitus

    0.40
  • smoking cessation

    0.39
  • colorectal adenocarcinoma

    0.34
  • smoking initiation

    0.32
  • Proptosis

    0.32
  • essential tremor

    0.32
  • obesity disorder

    0.32

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

Protein function (UniProt)

Roundabout homolog 2

Receptor for SLIT2, and probably SLIT1, which are thought to act as molecular guidance cue in cellular migration, including axonal navigation at the ventral midline of the neural tube and projection of axons to different regions during neuronal development

Curated MONDO disease pages that list ROBO2 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.