LY6E

Chr 8

lymphocyte antigen 6 family member E

Also known as: RIG-E, RIGE, SCA-2, SCA2, TSA-1

NCBI Gene: 4061 ENSG00000160932 UniProt: Q16553

The LY6E protein is a GPI-anchored cell surface protein that regulates T-cell proliferation, differentiation and activation through modulation of T-cell receptor signaling, and also restricts coronavirus entry by interfering with spike protein-mediated membrane fusion. Mutations in LY6E cause autosomal recessive severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation. The gene shows moderate tolerance to loss-of-function variation (LOEUF 1.116), and the condition typically presents in early infancy with recurrent infections and developmental delays.

ResearchSummary from RefSeq, UniProt

This gene belongs to the human Ly6 gene family and encodes a glycosylphosphatidyl-inositol (GPI)-anchored cell surface protein. The protein plays an important role in T cell physiology, oncogenesis and immunological regulation. The protein is also involved in modulation of viral infection by coronaviruses, SARS-CoV, MERS-CoV and SARS-CoV-2. [provided by RefSeq, Aug 2021]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.12

LOEUF

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Mechanism

Some data sources returned errors (1)

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