AMPD3 Gene

Name	adenosine monophosphate deaminase 3
Description	This gene encodes a member of the AMP deaminase gene family. The encoded protein is a highly regulated enzyme that catalyzes the hydrolytic deamination of adenosine monophosphate to inosine monophosphate, a branch point in the adenylate catabolic pathway. This gene encodes the erythrocyte (E) isoforms, whereas other family members encode isoforms that predominate in muscle (M) and liver (L) cells. Mutations in this gene lead to the clinically asymptomatic, autosomal recessive condition erythrocyte AMP deaminase deficiency. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jul 2008]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Adenosine monophosphate deaminase 3 (AMPD3) is a key enzyme that catalyzes the deamination of AMP to IMP, thereby regulating purine nucleotide turnover and cellular energy balance. In skeletal muscle, AMPD3‐driven anaplerotic reactions have been implicated in fuel switching and branched‐chain amino acid catabolism that support enhanced endurance and altered metabolic profiles under stress conditions"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "and have been linked to improvements in systemic insulin sensitivity. In erythrocytes, a distinct full‐length isoform of AMPD3 shows reversible membrane association that is pH‐responsive and modulated by protonated histidine residues; this behavior influences its catalytic activity, alters adenine nucleotide pools, and thereby affects hemoglobin oxygen affinity and tissue oxygen delivery."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": " Moreover, in models of ischemia–reperfusion injury, AMPD3‐mediated conversion of AMP to IMP appears to play an important role in modulating inflammatory responses—exemplified by the observation that IMP administration can attenuate lung injury following remote reperfusion."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " In the context of cancer, altered AMPD3 expression has been observed; for instance, upregulation of AMPD3 transcripts in LKB1‐mutant lung adenocarcinomas and its higher expression in head and neck squamous cell carcinoma correlate with less aggressive tumor behavior and improved patient survival, suggesting a potential tumor‐suppressive role."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " Finally, AMPD3 is also among a set of c‐Akt–regulated genes that contribute to cytoprotection against genotoxic stress, further underscoring its role in linking energy metabolism to cellular stress responses."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": " Together with its broader role in purine metabolism and regulation of AMP–activated protein kinase activity, these findings establish AMPD3 as a versatile mediator of energetic homeostasis, oxygen delivery, inflammation, and cell survival with potential therapeutic implications in cardiovascular disease and cancer."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Sungguan Hong, Wenjun Zhou, Bin Fang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Dissociation of muscle insulin sensitivity from exercise endurance in mice by HDAC3 depletion."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Med (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/nm.4245"}], "href": "https://doi.org/10.1038/nm.4245"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27991918"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27991918"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Donna K Mahnke-Zizelman, Richard L Sabina "}, {"type": "b", "children": [{"type": "t", "text": "N-terminal sequence and distal histidine residues are responsible for pH-regulated cytoplasmic membrane binding of human AMP deaminase isoform E."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M203473200"}], "href": "https://doi.org/10.1074/jbc.M203473200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12213808"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12213808"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "William G O'Brien, Han Shawn Ling, Zhaoyang Zhao, et al. "}, {"type": "b", "children": [{"type": "t", "text": "New insights on the regulation of the adenine nucleotide pool of erythrocytes in mouse models."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0180948"}], "href": "https://doi.org/10.1371/journal.pone.0180948"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28746349"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28746349"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Peili Li, Kazuhide Ogino, Yoshiko Hoshikawa, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Remote reperfusion lung injury is associated with AMP deaminase 3 activation and attenuated by inosine monophosphate."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Circ J (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1253/circj.71.591"}], "href": "https://doi.org/10.1253/circj.71.591"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17384464"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17384464"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Paloma Fernandez, Julian Carretero, Pedro P Medina, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Distinctive gene expression of human lung adenocarcinomas carrying LKB1 mutations."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Oncogene (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/sj.onc.1207665"}], "href": "https://doi.org/10.1038/sj.onc.1207665"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15077168"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15077168"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Cheng-Ming Hsu, Shun-Fu Chang, Yao-Te Tsai, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Down-regulation of "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "AMPD3"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": " Is Associated With Poor Survival in Head and Neck Squamous Cell Carcinoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "In Vivo (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.21873/invivo.12756"}], "href": "https://doi.org/10.21873/invivo.12756"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35241525"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35241525"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Niels P Riksen, Barbara Franke, Wim J G Oyen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Augmented hyperaemia and reduced tissue injury in response to ischaemia in subjects with the 34C > T variant of the AMPD1 gene."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur Heart J (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/eurheartj/ehm032"}], "href": "https://doi.org/10.1093/eurheartj/ehm032"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17376785"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17376785"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Hiroko Morisaki, Takayuki Morisaki "}, {"type": "b", "children": [{"type": "t", "text": "[AMPD genes and urate metabolism]."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nihon Rinsho (2008)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18409530"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18409530"}]}]}]}
Proteins	AMPD3_HUMAN
NCBI Gene ID	272
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

AMPD3 has 6,329 functional associations with biological entities spanning 9 categories (molecular profile, organism, disease, phenotype or trait, chemical, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 120 datasets.

Click the + buttons to view associations for AMPD3 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

AMPD3 Gene

Functional Associations

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

	Dataset	Summary
	Achilles Cell Line Gene Essentiality Profiles	cell lines with fitness changed by AMPD3 gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset.
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of AMPD3 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 AMPD3 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of AMPD3 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 AMPD3 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 AMPD3 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 AMPD3 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 AMPD3 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 AMPD3 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 AMPD3 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 AMPD3 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with AMPD3 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with AMPD3 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 AMPD3 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of AMPD3 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 AMPD3 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 AMPD3 gene from the curated ClinVar Gene-Phenotype Associations dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of AMPD3 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing AMPD3 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing AMPD3 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing AMPD3 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 AMPD3 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 AMPD3 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 AMPD3 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 AMPD3 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with AMPD3 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with AMPD3 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with AMPD3 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of AMPD3 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 AMPD3 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with AMPD3 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 AMPD3 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 AMPD3 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 AMPD3 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 AMPD3 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with AMPD3 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 AMPD3 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 AMPD3 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of AMPD3 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 AMPD3 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.