SH2D4A

Chr 8

SH2 domain containing 4A

Also known as: PPP1R38, SH2A

NCBI Gene: 63898 ENSG00000104611 UniProt: Q9H788 OMIM: 614968

The SH2D4A protein enables phosphatase binding and inhibits estrogen-induced cell proliferation by competing with phospholipase C gamma for estrogen receptor binding, and may function in T-cell development. Mutations cause autosomal recessive developmental and epileptic encephalopathy with movement abnormalities, typically presenting in infancy with seizures, developmental delay, and movement disorders. The gene shows tolerance to loss-of-function variation (pLI near zero), consistent with the recessive inheritance pattern observed clinically.

OMIM ResearchSummary from RefSeq, UniProt

Enables phosphatase binding activity. Located in cytosol. [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

1.42

LOEUF

Multiple*