GPC4

Chr X

glypican 4

Also known as: K-glypican, KPTS

NCBI Gene: 2239 ENSG00000076716 UniProt: O75487

GPC4 encodes a cell surface heparan sulfate proteoglycan that is involved in kidney tubule and central nervous system development. Mutations cause Keipert syndrome, an X-linked recessive disorder. The gene is highly constrained against loss-of-function mutations (pLI 0.93, LOEUF 0.37), indicating it is intolerant to inactivating variants.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. The GPC4 gene is adjacent to the 3' end of GPC3 and may also play a role in Simpson-Golabi-Behmel syndrome. [provided by RefSeq, Jul 2008]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtKeipert syndrome

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.37

LOEUF

LOF

Mechanism· G2P

📖

GeneReview available — GPC4