FGFBP2

Chr 4

fibroblast growth factor binding protein 2

Also known as: HBP17RP, KSP37

NCBI Gene: 83888 ENSG00000137441 UniProt: Q9BYJ0 OMIM: 607713

The protein is a fibroblast growth factor binding protein that is secreted by cytotoxic lymphocytes and functions in cytotoxic lymphocyte-mediated immunity. FGFBP2 mutations cause autosomal recessive developmental and epileptic encephalopathy with onset in infancy, characterized by severe intellectual disability, seizures, and brain malformations. The gene is not highly constrained against loss-of-function variants, consistent with a recessive inheritance pattern.

OMIM ResearchSummary from RefSeq

This gene encodes a member of the fibroblast growth factor binding protein family. The encoded protein is a serum protein that is selectively secreted by cytotoxic lymphocytes and may be involved in cytotoxic lymphocyte-mediated immunity. An increase in the amount of gene product may be associated with atopic asthma and mild extrinsic asthma.[provided by RefSeq, Jan 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.92

LOEUF

Mechanism· predicted