SDC2

Chr 8

syndecan 2

Also known as: CD362, HSPG, HSPG1, SYND2

NCBI Gene: 6383 ENSG00000169439 UniProt: P34741 OMIM: 142460

The encoded protein is a transmembrane heparan sulfate proteoglycan that functions as a cell surface receptor regulating dendritic arbor morphogenesis, cell proliferation, migration, and cell-matrix interactions. Mutations in SDC2 cause neurodevelopmental disorder with seizures and speech delay, inherited in an autosomal recessive pattern. The gene is moderately constrained against loss-of-function mutations.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a transmembrane (type I) heparan sulfate proteoglycan and is a member of the syndecan proteoglycan family. The syndecans mediate cell binding, cell signaling, and cytoskeletal organization and syndecan receptors are required for internalization of the HIV-1 tat protein. The syndecan-2 protein functions as an integral membrane protein and participates in cell proliferation, cell migration and cell-matrix interactions via its receptor for extracellular matrix proteins. Altered syndecan-2 expression has been detected in several different tumor types. [provided by RefSeq, Jul 2008]

OMIM 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)

—

P/LP submissions

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P/LP missense

0.67

LOEUF

Mechanism· predicted