UBASH3A

Chr 21

ubiquitin associated and SH3 domain containing A

Also known as: CLIP4, STS-2, TULA, TULA-1

NCBI Gene: 53347 ENSG00000160185 UniProt: P57075

This gene encodes a negative regulator of T-cell signaling that interferes with receptor degradation and promotes accumulation of activated receptors including T-cell receptors and growth factor receptors on the cell surface. Mutations cause autosomal recessive primary immunodeficiency with recurrent infections, lymphoproliferation, and autoimmune manifestations typically presenting in early childhood. The gene shows minimal constraint against loss-of-function variants, consistent with recessive inheritance where heterozygous carriers are typically unaffected.

ResearchSummary from RefSeq, UniProt

This gene encodes one of two family members belonging to the T-cell ubiquitin ligand (TULA) family. Both family members can negatively regulate T-cell signaling. This family member can facilitate growth factor withdrawal-induced apoptosis in T cells, which may occur via its interaction with AIF, an apoptosis-inducing factor. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

Mechanism· predicted

Some data sources returned errors (2)

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