SH3GL2

Chr 9

SH3 domain containing GRB2 like 2, endophilin A1

Also known as: CNSA2, EEN-B1, SH3D2A, SH3P4

NCBI Gene: 6456 ENSG00000107295 UniProt: Q99962 OMIM: 604465

The SH3GL2 protein mediates synaptic vesicle endocytosis and is required for BDNF-dependent dendrite outgrowth, playing a critical role in synaptic function and neuronal development. Mutations cause autosomal recessive early-onset epileptic encephalopathy with developmental delay and intellectual disability. The gene is highly constrained against loss-of-function variants, indicating that complete loss of protein function is likely pathogenic.

OMIM ResearchSummary from RefSeq, UniProt

Enables identical protein binding activity. Involved in negative regulation of blood-brain barrier permeability; negative regulation of gene expression; and negative regulation of signal transduction. Located in perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.79

LOEUF

Multiple*

Mechanism· predicted