Home > Gene Browser > TP53BP2

TP53BP2

Synonyms
53BP2, ASPP2, BBP, P53BP2, PPP1R13A
External resources
Summary
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.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
53
Likely pathogenic
0
VUS
7,666
Likely benign
288
Benign
0

Patient phenotypes

Proportions of phenotypes among 29 patients carring pathogenic or likely pathogenic variants on TP53BP2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
34.5%
Abnormality of the eye
24.1%
Abnormality of the musculoskeletal system
24.1%
Abnormality of the ear
17.2%
Abnormality of the immune system
13.8%
Abnormality of head or neck
10.3%
Growth abnormality
10.3%
Abnormality of blood and blood-forming tissues
6.9%
Abnormality of the cardiovascular system
6.9%
Abnormality of the digestive system
6.9%
Abnormality of the genitourinary system
6.9%
Abnormality of the integument
6.9%
Abnormality of the respiratory system
6.9%
Abnormality of limbs
3.4%
Abnormality of prenatal development or birth
3.4%
Abnormality of the endocrine system
3.4%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes