PDZD2 Gene

Name	PDZ domain containing 2
Description	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]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nPDZD2 is a ubiquitously expressed, multi‐PDZ domain protein that shares extensive homology with pro–interleukin‑16. It is predominantly localized to the endoplasmic reticulum where it undergoes caspase‑dependent proteolytic cleavage to generate a secreted form (sPDZD2) containing two PDZ domains. In pancreatic beta cells, both full‑length PDZD2 and sPDZD2 have been detected, and sPDZD2 has been shown to stimulate cell proliferation in insulinoma cells."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn studies using human fetal pancreatic tissues and pancreatic progenitor cells, PDZD2 has emerged as a novel pancreatic developmental factor. Its secreted form acts as a potent mitogen that promotes the proliferation of pancreatic progenitor cells while, in some experimental contexts, simultaneously inhibiting premature differentiation into endocrine lineages. At optimal concentrations, sPDZD2 stimulates the expression of pancreatic endocrine markers and enhances the functional maturation of islet‑like cell clusters, increasing their insulin secretory capability under certain depolarization conditions."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn cancer research, sPDZD2 has been reported to exert tumor suppressive actions. In prostate, breast, and liver cancer cells, sPDZD2 can induce cellular senescence and quiescence by activating p53 (either mutant or wild‑type), which sensitizes cells to apoptosis upon exposure to sub‑lethal genotoxic stress. Conversely, in osteosarcoma cells, downregulation of the tumor suppressor microRNA miR‑363 leads to increased PDZD2 expression, whereby PDZD2 appears to support enhanced proliferation, migration, and invasion."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nGenomic studies have further linked PDZD2 to clinical conditions. A multicopy duplication disrupting PDZD2 (alongside the neighboring GOLPH3 gene) has been associated with an increased maternal risk for recurrent miscarriage, while genetic variations in PDZD2 have also been implicated in susceptibility to clear cell renal cell carcinoma in specific populations."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": ""}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Man-Lung Yeung, Tammy S M Tam, Anthony C C Tsang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Proteolytic cleavage of PDZD2 generates a secreted peptide containing two PDZ domains."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "EMBO Rep (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/sj.embor.embor804"}], "href": "https://doi.org/10.1038/sj.embor.embor804"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12671685"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12671685"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Richard Yam Man Ma, Tammy Siu Man Tam, Ada P M Suen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Secreted PDZD2 exerts concentration-dependent effects on the proliferation of INS-1E cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Biochem Cell Biol (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.biocel.2005.11.012"}], "href": "https://doi.org/10.1016/j.biocel.2005.11.012"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16413998"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16413998"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "P M Suen, C Zou, Y A Zhang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PDZ-domain containing-2 (PDZD2) is a novel factor that affects the growth and differentiation of human fetal pancreatic progenitor cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Biochem Cell Biol (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.biocel.2007.10.020"}], "href": "https://doi.org/10.1016/j.biocel.2007.10.020"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18037333"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18037333"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Kwan Keung Leung, Po Man Suen, Tse Kin Lau, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PDZ-domain containing-2 (PDZD2) drives the maturity of human fetal pancreatic progenitor-derived islet-like cell clusters with functional responsiveness against membrane depolarization."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Stem Cells Dev (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1089/scd.2008.0325"}], "href": "https://doi.org/10.1089/scd.2008.0325"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19046020"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19046020"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Chun Wai Tam, Vincent Wing Sun Liu, Wai Ying Leung, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The autocrine human secreted PDZ domain-containing protein 2 (sPDZD2) induces senescence or quiescence of prostate, breast and liver cancer cells via transcriptional activation of p53."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cancer Lett (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.canlet.2008.05.047"}], "href": "https://doi.org/10.1016/j.canlet.2008.05.047"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18639375"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18639375"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Fan He, Long Fang, Qingshui Yin "}, {"type": "b", "children": [{"type": "t", "text": "miR-363 acts as a tumor suppressor in osteosarcoma cells by inhibiting PDZD2."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Oncol Rep (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3892/or.2019.7078"}], "href": "https://doi.org/10.3892/or.2019.7078"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30896877"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30896877"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Liina Nagirnaja, Priit Palta, Laura Kasak, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Structural genomic variation as risk factor for idiopathic recurrent miscarriage."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.22589"}], "href": "https://doi.org/10.1002/humu.22589"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24827138"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24827138"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Ning Zhang, Yishuo Wu, Jian Gong, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Germline genetic variations in PDZD2 and ITPR2 genes are associated with clear cell renal cell carcinoma in Chinese population."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Oncotarget (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.18632/oncotarget.6917"}], "href": "https://doi.org/10.18632/oncotarget.6917"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26918600"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26918600"}]}]}]}
Synonyms	PIN1, AIPC, PAPIN, PDZK3
Proteins	PDZD2_HUMAN
NCBI Gene ID	23037
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

PDZD2 has 7,887 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 119 datasets.

Click the + buttons to view associations for PDZD2 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

PDZD2 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of PDZD2 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of PDZD2 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of PDZD2 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of PDZD2 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of PDZD2 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of PDZD2 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of PDZD2 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of PDZD2 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of PDZD2 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of PDZD2 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of PDZD2 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with PDZD2 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of PDZD2 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of PDZD2 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of PDZD2 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing PDZD2 protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of PDZD2 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing PDZD2 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing PDZD2 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing PDZD2 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with PDZD2 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with PDZD2 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of PDZD2 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with PDZD2 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with PDZD2 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with PDZD2 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with PDZD2 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by PDZD2 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with PDZD2 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with PDZD2 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with PDZD2 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with PDZD2 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with PDZD2 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with PDZD2 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at PDZD2 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of PDZD2 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of PDZD2 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing PDZD2 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with PDZD2 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GDSC Cell Line Gene Expression Profiles	cell lines with high or low expression of PDZD2 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.