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ERBIN

Chr 5q12.3

erbb2 interacting protein

Aliases:
LAP2
MANE:
ENST00000284037.10

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • COVID-19 research

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Primary immunodeficiency or monogenic inflammatory bowel disease

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • cancer

    0.60
  • alcohol drinking

    0.34
  • ovarian neoplasm

    0.32
  • adolescent idiopathic scoliosis

    0.27
  • food allergy

    0.26
  • musculoskeletal system disorder

    0.25
  • urolithiasis

    0.25
  • tuberculosis

    0.24
  • diabetes mellitus

    0.24
  • placenta praevia

    0.24

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

Protein function (UniProt)

Erbin

Acts as an adapter for the receptor ERBB2, in epithelia. By binding the unphosphorylated 'Tyr-1248' of receptor ERBB2, it may contribute to stabilize this unphosphorylated state (PubMed:16203728). Inhibits NOD2-dependent NF-kappa-B signaling and pro-inflammatory cytokine secretion (PubMed:16203728). Acts as a mediator of keratinocyte differentiation by sequestering SHOC2 away from ERK-activating RAS complexes (PubMed:23524970)

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.