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PDZD2

Synonyms
AIPC, PAPIN, PDZK3, PIN1
External resources
Summary
The protein encoded by this gene contains six PDZ domains and shares sequence similarity with pro-interleukin-16 (pro-IL-16). Like pro-IL-16, the encoded protein localizes to the endoplasmic reticulum and is thought to be cleaved by a caspase to produce a secreted peptide containing two PDZ domains. In addition, this gene is upregulated in primary prostate tumors and may be involved in the early stages of prostate tumorigenesis.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
13
Likely pathogenic
1
VUS
5,914
Likely benign
10,256
Benign
0

Patient phenotypes

Proportions of phenotypes among 14 patients carrying pathogenic or likely pathogenic variants on PDZD2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the immune system
35.7%
Abnormality of blood and blood-forming tissues
28.6%
Abnormality of head or neck
28.6%
Abnormality of the musculoskeletal system
28.6%
Abnormality of the nervous system
28.6%
Abnormality of the eye
21.4%
Abnormal cellular phenotype
14.3%
Abnormality of the digestive system
14.3%
Abnormality of the genitourinary system
14.3%
Abnormality of the respiratory system
14.3%
Abnormality of the cardiovascular system
7.1%
Abnormality of the ear
7.1%
Abnormality of the endocrine system
7.1%
Abnormality of the integument
7.1%
Growth abnormality
7.1%
Neoplasm
7.1%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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