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ROR1

Chr 1p31.3

ROR family WNT receptor 1

MANE:
ENST00000371079.6

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Monogenic hearing loss

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • hearing loss, autosomal recessive

    0.45
  • Abnormality of the skeletal system

    0.39
  • cervical carcinoma

    0.37
  • diffuse large B-cell lymphoma

    0.36
  • mantle cell lymphoma

    0.32
  • thrombophilia

    0.29
  • knee fracture

    0.29
  • deafness

    0.28
  • fracture of pelvis

    0.27
  • septic shock

    0.26

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

Protein function (UniProt)

Inactive tyrosine-protein kinase transmembrane receptor ROR1

Has very low kinase activity in vitro and is unlikely to function as a tyrosine kinase in vivo (PubMed:25029443). Receptor for ligand WNT5A which activates downstream NFkB signaling pathway and may result in the inhibition of WNT3A-mediated signaling (PubMed:25029443, PubMed:27162350). In the inner ear, crucial for spiral ganglion neurons to innervate auditory hair cells (PubMed:27162350). Via IGFBP5 ligand, forms a complex with ERBB2 to enhance CREB oncogenic signaling (PubMed:36949068)

Curated MONDO disease pages that list ROR1 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.