PDZD2 Chromosome 5
PDZ domain containing 2
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What This Gene Does
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. [provided by RefSeq, Dec 2015]
Gene Info
Gene Group
PDZ domain containing
Locus Type
gene with protein product
Location
5p13.3
Ensembl
ENSG00000133401
Associated Conditions (1)
PDZD2-related disorder
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS146240060 | Health Risk | Conflicting classifications of pathogenicity | PDZD2-related disorder, PDZD2-related disorder |
| RS149433149 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201167069 | Health Risk | Conflicting classifications of pathogenicity | — |