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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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AMPD3
adenosine monophosphate deaminase 3
Chromosome 11 Β· 11p15.4
NCBI Gene: 272Ensembl: ENSG00000133805.17HGNC: HGNC:470UniProt: Q01432
35PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingIMP biosynthetic processAMP metabolic processAMP deaminase activityadenosine monophosphate deaminase deficiencyAbnormality of the skeletal systemnephrolithiasisAbnormality of skin pigmentation
✦AI Summary

AMPD3 encodes adenosine monophosphate deaminase 3, a metabolic enzyme that catalyzes AMP catabolism and plays a critical role in cellular energy metabolism 1. The protein exhibits AMP deaminase activity and participates in IMP biosynthesis and AMP metabolic processes [UniProt]. AMPD3 expression is controlled by three tandem promoters with tissue-specific regulation, particularly in skeletal muscle 2. Mechanistically, AMPD3 functions within the erythrocyte ENT1-AMPD3 axis as a master purinergic hypoxia sensor. Under hypoxic conditions, AMPD3 activation promotes metabolic reprogramming through AMPK-dependent pathways, regulating energy supply and oxygen delivery 1. In cancer contexts, AMPD3 downregulation correlates with advanced tumor stages and poor prognosis in head and neck squamous cell carcinoma, suggesting antiproliferative functions 3. In diabetic hearts, miR-301b-mediated translational suppression of AMPD3 is dysregulated, leading to pathological AMPD3 upregulation and ATP depletion 4. Disease relevance includes adenosine monophosphate deaminase deficiency (erythrocyte type), hypoalphalipoproteinemia with damaging AMPD3 variants identified in low HDL-C populations 5, chr11 kidney disease progression where AMPD3 deficiency is protective 1, and autosomal dominant polycystic kidney disease where super-enhancer-driven AMPD3 upregulation promotes cystogenesis 6. AMPD3 represents a therapeutic target for metabolic dysfunction in multiple pathological contexts.

Sources cited
1
AMPD3 functions as a purinergic hypoxia sensor in erythrocytes regulating energy metabolism and oxygen delivery; protects against CKD progression
PMID: 37725437
2
AMPD3 gene expression is controlled by three tandem promoters with tissue-specific regulation
PMID: 8611627
3
AMPD3 is downregulated in head and neck squamous cell carcinoma; high expression correlates with better survival
PMID: 35241525
4
miR-301b-mediated translational regulation of AMPD3 is dysregulated in diabetic hearts, contributing to ATP depletion
PMID: 29733818
5
Damaging AMPD3 variants identified in individuals with hypoalphalipoproteinemia and low HDL-C levels
PMID: 35460704
6
Super-enhancer-driven AMPD3 upregulation promotes cystogenesis in autosomal dominant polycystic kidney disease
PMID: 32694829
Disease Associationsβ“˜21
adenosine monophosphate deaminase deficiencyOpen Targets
0.56Moderate
Abnormality of the skeletal systemOpen Targets
0.47Moderate
nephrolithiasisOpen Targets
0.43Moderate
Abnormality of skin pigmentationOpen Targets
0.37Weak
Tietze syndromeOpen Targets
0.31Weak
Abnormal blistering of the skinOpen Targets
0.28Weak
hemorrhoidOpen Targets
0.23Weak
osteoarthritisOpen Targets
0.12Weak
myoepithelial tumorOpen Targets
0.11Weak
total knee arthroplastyOpen Targets
0.08Suggestive
chronic kidney diseaseOpen Targets
0.07Suggestive
osteoarthritis, kneeOpen Targets
0.07Suggestive
Parkinson diseaseOpen Targets
0.06Suggestive
type 2 diabetes mellitusOpen Targets
0.05Suggestive
congestive heart failureOpen Targets
0.04Suggestive
hemoglobin D diseaseOpen Targets
0.04Suggestive
Chronic mucocutaneous candidosisOpen Targets
0.04Suggestive
immunodeficiency 51Open Targets
0.04Suggestive
X-Linked Combined Immunodeficiency DiseasesOpen Targets
0.04Suggestive
hemoglobin E diseaseOpen Targets
0.04Suggestive
Adenosine monophosphate deaminase deficiency erythrocyte typeUniProt
Pathogenic Variants3
NM_001025389.2(AMPD3):c.648dup (p.Asn217fs)Likely pathogenic
Erythrocyte AMP deaminase deficiency
β˜…β˜†β˜†β˜†2025β†’ Residue 217
NM_001025389.2(AMPD3):c.1815_1816del (p.Ile606fs)Likely pathogenic
Erythrocyte AMP deaminase deficiency
β˜…β˜†β˜†β˜†2024β†’ Residue 606
NM_001025389.2(AMPD3):c.1717C>T (p.Arg573Cys)Pathogenic
Erythrocyte AMP deaminase deficiency|AMPD3-related disorder
β˜…β˜†β˜†β˜†2017β†’ Residue 573
View on ClinVar β†—
Related Genes
NT5C2Protein interaction97%NT5MProtein interaction96%PDE11AProtein interaction96%NT5C3AProtein interaction96%PNPProtein interaction94%ATICProtein interaction93%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
33%
Lung
23%
Ovary
7%
Heart
5%
Liver
4%
Gene Interaction Network
Click a node to explore
AMPD3NT5C2NT5MPDE11ANT5C3APNPATIC
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q01432
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.82LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.66 [0.53–0.82]
RankingsWhere AMPD3 stands among ~20K protein-coding genes
  • #10,909of 20,598
    Most Researched35
  • #4,097of 5,498
    Most Pathogenic Variants3
  • #6,912of 17,882
    Most Constrained (LOEUF)0.82
Genes detectedAMPD3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.
PMID: 35460704
J Lipid Res Β· 2022
1.00
2
Erythrocyte ENT1-AMPD3 Axis is an Essential Purinergic Hypoxia Sensor and Energy Regulator Combating CKD in a Mouse Model.
PMID: 37725437
J Am Soc Nephrol Β· 2023
0.90
3
Super-enhancer-driven metabolic reprogramming promotes cystogenesis in autosomal dominant polycystic kidney disease.
PMID: 32694829
Nat Metab Β· 2020
0.80
4
Characterization of the human AMPD3 gene reveals that 5' exon useage is subject to transcriptional control by three tandem promoters and alternative splicing.
PMID: 8611627
Biochim Biophys Acta Β· 1996
0.70
5
Down-regulation of
PMID: 35241525
In Vivo Β· 2022
0.60