TP53BP2 Chromosome 1

Tumor protein p53 binding protein 2
1 variant 1 Health Risk

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What This Gene Does
This gene encodes a member of the ASPP (apoptosis-stimulating protein of p53) family of p53 interacting proteins. The protein contains four ankyrin repeats and an SH3 domain involved in protein-protein interactions. It is localized to the perinuclear region of the cytoplasm, and regulates apoptosis and cell growth through interactions with other regulatory molecules including members of the p53 family. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Ankyrin repeat domain containing|Protein phosphatase 1 regulatory subunits"
Locus Type
gene with protein product
Location
1q41
Ensembl
ENSG00000143514
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS138105834 Health Risk Conflicting classifications of pathogenicity
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