SFRP2

Chr 4

secreted frizzled related protein 2

Also known as: FRP-2, SARP1, SDF-5

NCBI Gene: 6423 ENSG00000145423 UniProt: Q96HF1 OMIM: 604157

The protein functions as a soluble modulator of Wnt signaling through direct interaction with Wnt proteins and plays a role in eye retinal development and myogenesis. Mutations in this gene cause autosomal recessive retinal dystrophy with early childhood onset. The gene is not highly constrained against loss-of-function variants, consistent with a recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. SFRPs act as soluble modulators of Wnt signaling. Methylation of this gene is a potential marker for the presence of colorectal cancer. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

105

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.06

LOEUF

Mechanism· predicted