PCNT Gene

Name	pericentrin
Description	The protein encoded by this gene binds to calmodulin and is expressed in the centrosome. It is an integral component of the pericentriolar material (PCM). The protein contains a series of coiled-coil domains and a highly conserved PCM targeting motif called the PACT domain near its C-terminus. The protein interacts with the microtubule nucleation component gamma-tubulin and is likely important to normal functioning of the centrosomes, cytoskeleton, and cell-cycle progression. Mutations in this gene cause Seckel syndrome-4 and microcephalic osteodysplastic primordial dwarfism type II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nPericentrin (PCNT) is a key centrosomal scaffold protein that orchestrates the formation and organization of the pericentriolar material (PCM) during mitosis. It anchors numerous structural and regulatory molecules required for proper mitotic spindle formation, microtubule nucleation, and centrosome maturation. Loss‐of‐function mutations in PCNT disrupt the assembly of mitotic spindles and lead to chromosomal missegregation, as observed in conditions such as microcephalic osteodysplastic primordial dwarfism type II (MOPD II) and Seckel syndrome."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond its role as a structural platform, PCNT undergoes critical regulatory modifications that allow proper centriole disengagement and duplication. Specifically, during mitotic exit, PCNT is phosphorylated by PLK1 and subsequently cleaved by separase—a process essential for releasing engaged centrioles and licensing them for duplication in the next cell cycle. Its interactions with proteins such as CEP215 and Chk1 further integrate centrosomal organization with DNA damage response pathways, ensuring accurate cell cycle progression."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "5", "end_ref": "11"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nClinically, mutations in PCNT not only impair centrosome integrity and cell division but also manifest in a spectrum of developmental and metabolic abnormalities. In addition to causing severe growth retardation and microcephaly—as well as dental anomalies in MOPD II patients—PCNT defects have been linked with abnormal regulation in insulin secretion from pancreatic β‐cells, potentially contributing to early‐onset diabetes. Furthermore, aberrant PCNT localization or processing via altered nucleocytoplasmic trafficking and proteolytic cleavage (for instance, by MT1‑MMP) may impact additional signaling cascades and microtubule dynamics through interactions with proteins such as DISC1, thereby linking centrosomal dysfunction with broader neurodevelopmental and cellular stress responses."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "12", "end_ref": "18"}]}, {"type": "t", "text": ""}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Anita Rauch, Christian T Thiel, Detlev Schindler, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in the pericentrin (PCNT) gene cause primordial dwarfism."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Science (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1126/science.1151174"}], "href": "https://doi.org/10.1126/science.1151174"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18174396"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18174396"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Elen Griffith, Sarah Walker, Carol-Anne Martin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.2007.80"}], "href": "https://doi.org/10.1038/ng.2007.80"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18157127"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18157127"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Kwanwoo Lee, Kunsoo Rhee "}, {"type": "b", "children": [{"type": "t", "text": "PLK1 phosphorylation of pericentrin initiates centrosome maturation at the onset of mitosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Biol (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1083/jcb.201106093"}], "href": "https://doi.org/10.1083/jcb.201106093"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22184200"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22184200"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Mikiko Takahashi, Akiko Yamagiwa, Tamako Nishimura, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Centrosomal proteins CG-NAP and kendrin provide microtubule nucleation sites by anchoring gamma-tubulin ring complex."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Biol Cell (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1091/mbc.e02-02-0112"}], "href": "https://doi.org/10.1091/mbc.e02-02-0112"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12221128"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12221128"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Kazuhiko Matsuo, Keita Ohsumi, Mari Iwabuchi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Kendrin is a novel substrate for separase involved in the licensing of centriole duplication."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Curr Biol (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.cub.2012.03.048"}], "href": "https://doi.org/10.1016/j.cub.2012.03.048"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22542101"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22542101"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "M Willems, D Geneviève, G Borck, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Med Genet (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1136/jmg.2009.067298"}], "href": "https://doi.org/10.1136/jmg.2009.067298"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19643772"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19643772"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Alexandra Tibelius, Joachim Marhold, Hanswalter Zentgraf, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Microcephalin and pericentrin regulate mitotic entry via centrosome-associated Chk1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Biol (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1083/jcb.200810159"}], "href": "https://doi.org/10.1083/jcb.200810159"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19546241"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19546241"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Kwanwoo Lee, Kunsoo Rhee "}, {"type": "b", "children": [{"type": "t", "text": "Separase-dependent cleavage of pericentrin B is necessary and sufficient for centriole disengagement during mitosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Cycle (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.4161/cc.20878"}], "href": "https://doi.org/10.4161/cc.20878"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22722493"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22722493"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Seongjae Kim, Kunsoo Rhee "}, {"type": "b", "children": [{"type": "t", "text": "Importance of the CEP215-pericentrin interaction for centrosome maturation during mitosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0087016"}], "href": "https://doi.org/10.1371/journal.pone.0087016"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24466316"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24466316"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Jaeyoun Kim, Kwanwoo Lee, Kunsoo Rhee "}, {"type": "b", "children": [{"type": "t", "text": "PLK1 regulation of PCNT cleavage ensures fidelity of centriole separation during mitotic exit."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Commun (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ncomms10076"}], "href": "https://doi.org/10.1038/ncomms10076"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26647647"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26647647"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Jaeyoun Kim, Jeongjin Kim, Kunsoo Rhee "}, {"type": "b", "children": [{"type": "t", "text": "PCNT is critical for the association and conversion of centrioles to centrosomes during mitosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Sci (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1242/jcs.225789"}], "href": "https://doi.org/10.1242/jcs.225789"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30814333"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30814333"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Isabel Huang-Doran, Louise S Bicknell, Francis M Finucane, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Diabetes (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.2337/db10-1334"}], "href": "https://doi.org/10.2337/db10-1334"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21270239"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21270239"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Piranit Kantaputra, Pranoot Tanpaiboon, Thantrira Porntaveetus, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The smallest teeth in the world are caused by mutations in the PCNT gene."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet A (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.a.33984"}], "href": "https://doi.org/10.1002/ajmg.a.33984"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21567919"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21567919"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "Vladislav S Golubkov, Alexei V Chekanov, Stephen J Doxsey, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "Pericentrin contains five NESs and an NLS essential for its nucleocytoplasmic trafficking during the cell cycle."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Res (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/cr.2010.89"}], "href": "https://doi.org/10.1038/cr.2010.89"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20567258"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20567258"}]}, {"type": "r", "ref": 18, "children": [{"type": "t", "text": "Cristina Sorino, Tiziana Bruno, Agata Desantis, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Centrosomal Che-1 protein is involved in the regulation of mitosis and DNA damage response by mediating pericentrin (PCNT)-dependent Chk1 protein localization."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M113.465302"}], "href": "https://doi.org/10.1074/jbc.M113.465302"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23798705"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23798705"}]}]}]}
Synonyms	KEN, PCTN2, PCN, PCNT2, MOPD2, PCNTB, SCKL4
Proteins	PCNT_HUMAN
NCBI Gene ID	5116
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

PCNT has 8,207 functional associations with biological entities spanning 9 categories (molecular profile, organism, disease, phenotype or trait, functional term, phrase or reference, chemical, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 127 datasets.

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

If available, associations are ranked by standardized value

Harmonizome 3.0

PCNT 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 PCNT 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 PCNT 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 PCNT 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 PCNT 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 PCNT 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 PCNT 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 PCNT 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 PCNT gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of PCNT 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 PCNT gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with PCNT protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with PCNT 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 PCNT gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of PCNT 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 PCNT gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with PCNT gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with PCNT gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing PCNT 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 PCNT gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing PCNT protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing PCNT protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing PCNT protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing PCNT 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 PCNT 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 PCNT protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	CORUM Protein Complexes	protein complexs containing PCNT protein from the CORUM Protein Complexes dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of PCNT gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with PCNT gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with PCNT gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with PCNT gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with PCNT gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of PCNT protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by PCNT gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving PCNT gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with PCNT 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 PCNT 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 PCNT 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 PCNT gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with PCNT 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 PCNT gene from the ENCODE Histone Modification Site Profiles dataset.