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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ADAM20
ADAM metallopeptidase domain 20
Chromosome 14 · 14q24.2
NCBI Gene: 8748Ensembl: ENSG00000134007.5HGNC: HGNC:199UniProt: A0A494C0E3
8PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Protease
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
metalloendopeptidase activitymale gonad developmentplasma membraneexternal side of plasma membraneplacenta praeviaattention deficit hyperactivity disorderhereditary attention deficit-hyperactivity disorderschizophrenia 15
✦AI Summary

ADAM20 is a membrane-anchored metalloproteinase-disintegrin with a zinc metalloproteinase catalytic domain and conserved disintegrin motif 1. The gene shows testis-specific expression 1 and is predicted to function in sperm maturation and fertilization processes. However, CRISPR/Cas9-generated Adam20-deficient mice exhibited normal fertility, indicating the gene is dispensable for male reproductive function in mice 2. ADAM20 is a predicted target of miR-1183, which is upregulated during cardiac remodeling induced by stretch and tachycardia in human atrial myocardium, with ADAM20 downregulation observed in both acute and chr14 atrial fibrillation settings 3. ADAM20 appears relevant to neurological disease, as CpG-related genetic variants in ADAM20 were associated with Alzheimer's disease risk in Caribbean Hispanic populations at genome-wide significance levels 4. Additionally, ADAM20 was identified among genes with decreased DNA methylation in early-onset high myopia in children, suggesting potential epigenetic involvement in ocular development 5. ADAM20 transcripts were detected at high levels in gastric carcinoma tissue, though H. pylori infection did not increase ADAM20 expression in normal gastric mucosa as observed with other ADAMs 6.

Sources cited
1
ADAM20 shows testis-specific expression, lacks introns, and contains conserved zinc metalloproteinase and disintegrin domains
PMID: 10524237
2
Adam20-deficient mice generated via CRISPR/Cas9 exhibited normal fertility, indicating the gene is not essential for male reproductive function
PMID: 38835510
3
ADAM20 is a predicted target of miR-1183, which is upregulated during cardiac remodeling in atrial fibrillation and dilated cardiomyopathy
PMID: 35805966
4
CpG-related genetic variants in ADAM20 were associated with Alzheimer's disease risk at genome-wide significance in Caribbean Hispanic populations
PMID: 39177846
5
ADAM20 showed decreased DNA methylation in children with early-onset high myopia
PMID: 36036911
6
ADAM20 transcripts were present at high levels in gastric carcinoma but were not increased by H. pylori infection in normal gastric mucosa
PMID: 11807715
Disease Associationsⓘ20
placenta praeviaOpen Targets
0.16Weak
attention deficit hyperactivity disorderOpen Targets
0.07Suggestive
hereditary attention deficit-hyperactivity disorderOpen Targets
0.06Suggestive
attention deficit-hyperactivity disorder 8Open Targets
0.05Suggestive
intellectual disability, autosomal recessive 59Open Targets
0.05Suggestive
schizophrenia 15Open Targets
0.05Suggestive
squamous cell carcinomaOpen Targets
0.05Suggestive
Tourette syndromeOpen Targets
0.05Suggestive
autismOpen Targets
0.05Suggestive
neurodevelopmental disorder with microcephaly, hypotonia, and absent languageOpen Targets
0.04Suggestive
Phelan-McDermid syndromeOpen Targets
0.04Suggestive
epilepsy, progressive myoclonic, 12Open Targets
0.04Suggestive
Potocki-Lupski syndromeOpen Targets
0.03Suggestive
X-linked non-syndromic intellectual disabilityOpen Targets
0.03Suggestive
X-linked dominant intellectual disability - epilepsy syndromeOpen Targets
0.03Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
infertilityOpen Targets
0.01Suggestive
myopiaOpen Targets
0.00Suggestive
gastric carcinomaOpen Targets
0.00Suggestive
COVID-19Open Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ADAM30Protein interaction79%ADAM21Protein interaction77%ADAM2Protein interaction67%ADAM29Shared pathway50%ADAM32Shared pathway40%TEX46Shared pathway33%
Tissue Expression6 tissues
Ovary
100%
Liver
67%
Brain
63%
Lung
53%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
ADAM20ADAM30ADAM21ADAM2ADAM29ADAM32TEX46
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O43506
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.93LoF Tolerant
pLIⓘ
0.12Tolerant
Observed/Expected LoF2.48 [0.36–1.93]
RankingsWhere ADAM20 stands among ~20K protein-coding genes
  • #17,530of 20,598
    Most Researched8
  • #17,513of 17,882
    Most Constrained (LOEUF)1.93
Genes detectedADAM20
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Epigenetic and genetic risk of Alzheimer disease from autopsied brains in two ethnic groups.
PMID: 39177846
Acta Neuropathol · 2024
1.00
2
Gene-deficient mouse model established by CRISPR/Cas9 system reveals 15 reproductive organ-enriched genes dispensable for male fertility.
PMID: 38835510
Front Cell Dev Biol · 2024
0.90
3
miR-1183 Is a Key Marker of Remodeling upon Stretch and Tachycardia in Human Myocardium.
PMID: 35805966
Int J Mol Sci · 2022
0.80
4
Relation between Tetraspanin- Associated and Tetraspanin- Non- Associated Exosomal Proteases and Metabolic Syndrome in Colorectal Cancer Patients.
PMID: 30909692
Asian Pac J Cancer Prev · 2019
0.70
5
Molecular cloning and mapping of a novel ADAM gene (ADAM29) to human chromosome 4.
PMID: 10644455
Genomics · 1999
0.60