HHLA2

Chr 3

HHLA2 member of B7 family

Also known as: B7-H5, B7-H7, B7H7, B7y

NCBI Gene: 11148 ENSG00000114455 UniProt: Q9UM44 OMIM: 604371

The protein is a surface ligand on monocytes that regulates T-cell mediated immunity by binding to receptors on T lymphocytes, with evidence suggesting it can both inhibit and costimulate T-cell proliferation and cytokine production. This gene is not well-established as a cause of human disease, as it shows no constraint against loss-of-function variants in population databases. Clinical significance of variants in this gene remains uncertain.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a protein ligand found on the surface of monocytes. The encoded protein is thought to regulate cell-mediated immunity by binding to a receptor on T lymphocytes and inhibiting the proliferation of these cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.00

LOEUF

Multiple*

Mechanism· predicted