POPDC3 Gene

Name	popeye domain containing 3
Description	This gene encodes a member of the POP family of proteins containing three putative transmembrane domains. This gene is expressed in cardiac and skeletal muscle and may play an important role in these tissues during development. Alternatively spliced transcript variants have been found. [provided by RefSeq, Nov 2008]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nThe Popeye domain-containing protein 3 (POPDC3) is a transmembrane protein endowed with a high-affinity cyclic adenosine monophosphate (cAMP) binding domain and is a member of the POPDC family. Predominantly expressed in both striated and smooth muscle cells, POPDC3 is thought to regulate membrane trafficking and modulate cell‐cell interactions—functions that are central to proper cAMP signaling. Although its precise biochemical activities remain under investigation, animal models and emerging studies suggest that POPDC3 plays an essential role in normal muscle physiology."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond its role in muscle function, POPDC3 has emerged as a potential tumor suppressor in epithelial tissues, particularly in gastric cancer. Multiple studies have demonstrated that downregulation of POPDC3, commonly mediated through promoter hypermethylation, correlates with increased cell migration and invasion. This loss of expression is associated with the progression from premalignant lesions, such as intestinal metaplasia, to overt gastric cancer, emphasizing its clinical significance as both a biomarker and a prospective therapeutic target."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "4", "end_ref": "6"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nMoreover, genetic studies have linked POPDC3 variants to muscle pathology, notably limb‐girdle muscular dystrophy. Patients harboring loss‐of‐function mutations in POPDC3 present with clinical features including exercise intolerance, myalgia, and significantly elevated creatine kinase levels, underscoring its critical role in the maintenance of muscle integrity. These findings further illustrate the dual impact of POPDC3 dysregulation in both muscular and oncologic disorders."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": ""}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Thomas Brand, Roland Schindler "}, {"type": "b", "children": [{"type": "t", "text": "New kids on the block: The Popeye domain containing (POPDC) protein family acting as a novel class of cAMP effector proteins in striated muscle."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Signal (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.cellsig.2017.09.015"}], "href": "https://doi.org/10.1016/j.cellsig.2017.09.015"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28939104"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28939104"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "John Vissing, Katherine Johnson, Ana Töpf, et al. "}, {"type": "b", "children": [{"type": "t", "text": "POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ann Neurol (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ana.25620"}], "href": "https://doi.org/10.1002/ana.25620"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31610034"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31610034"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Chen-Chen Sun, Zhe Zhao, Xi-Yang Peng, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Progress on the study of Popeye domain-containing 3 (POPDC3) in malignancies and striated muscle function and homeostasis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Genet (2023)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/cge.14318"}], "href": "https://doi.org/10.1111/cge.14318"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "36843357"}], "href": "https://pubmed.ncbi.nlm.nih.gov/36843357"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Mirang Kim, Hay-Ran Jang, Keeok Haam, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Frequent silencing of popeye domain-containing genes, BVES and POPDC3, is associated with promoter hypermethylation in gastric cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Carcinogenesis (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/carcin/bgq144"}], "href": "https://doi.org/10.1093/carcin/bgq144"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20627872"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20627872"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Deng Luo, Ming-Liang Lu, Gong-Fang Zhao, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Reduced Popdc3 expression correlates with high risk and poor survival in patients with gastric cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "World J Gastroenterol (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3748/wjg.v18.i19.2423"}], "href": "https://doi.org/10.3748/wjg.v18.i19.2423"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22654436"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22654436"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Rachel Gingold-Belfer, Gania Kessler-Icekson, Sara Morgenstern, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The Transition from Gastric Intestinal Metaplasia to Gastric Cancer Involves "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "POPDC1"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": " and "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "POPDC3"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": " Downregulation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Mol Sci (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3390/ijms22105359"}], "href": "https://doi.org/10.3390/ijms22105359"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34069715"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34069715"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Anwar Ullah, Zhaohan Lin, Muhammad Younus, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Homozygous missense variant in POPDC3 causes recessive limb-girdle muscular dystrophy type 26."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Gene Med (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/jgm.3412"}], "href": "https://doi.org/10.1002/jgm.3412"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35075722"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35075722"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Willem De Ridder, Geert de Vries, Kristof Van Schil, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A homozygous loss of function variant in POPDC3: From invalidating exercise intolerance to a limb-girdle muscular dystrophy phenotype."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neuromuscul Disord (2023)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.nmd.2023.04.003"}], "href": "https://doi.org/10.1016/j.nmd.2023.04.003"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "37104941"}], "href": "https://pubmed.ncbi.nlm.nih.gov/37104941"}]}]}]}
Synonyms	POP3, BA355M14.1
Proteins	POPD3_HUMAN
NCBI Gene ID	64208
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

POPDC3 has 5,339 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 109 datasets.

Click the + buttons to view associations for POPDC3 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

POPDC3 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 POPDC3 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of POPDC3 gene relative to other tissues from the Allen Brain Atlas Adult Mouse 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 POPDC3 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 POPDC3 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 POPDC3 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 POPDC3 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 POPDC3 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 POPDC3 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 POPDC3 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 POPDC3 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of POPDC3 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 POPDC3 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with POPDC3 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 POPDC3 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of POPDC3 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 POPDC3 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	CM4AI KOLF21J CRISPRi Gene Perturbation Atlas	gene perturbations changing expression of POPDC3 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of POPDC3 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing POPDC3 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing POPDC3 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing POPDC3 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with POPDC3 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 POPDC3 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 POPDC3 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with POPDC3 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with POPDC3 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with POPDC3 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with POPDC3 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 POPDC3 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving POPDC3 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with POPDC3 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with POPDC3 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 POPDC3 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 POPDC3 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with POPDC3 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 POPDC3 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 POPDC3 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of POPDC3 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 POPDC3 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with POPDC3 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.