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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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AS3MT
arsenite methyltransferase
Chromosome 10 · 10q24.32
NCBI Gene: 57412Ensembl: ENSG00000214435.10HGNC: HGNC:17452UniProt: Q9HBK9
106PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
arsenite methyltransferase activitytoxin metabolic processarsonoacetate metabolic processmethylationschizophreniaAbnormality of the skeletal systemsmoking initiationhypertension
✦AI Summary

AS3MT (arsenite methyltransferase) is a cytosolic enzyme that catalyzes the sequential methylation of trivalent arsenicals using S-adenosylmethionine as a methyl donor 1. The enzyme converts arsenite to methylarsonate, which is then reduced to methylarsonite and subsequently methylated to form the less toxic dimethylarsinate (cacodylate) 1. AS3MT exhibits tissue-specific expression patterns, being present in liver, brain, and adrenal gland but absent in keratinocytes and certain endothelial cells, indicating transcriptional regulation involving the Sp1 transcription factor binding to a GC box in the promoter region 2. Genetic polymorphisms in AS3MT significantly impact arsenic metabolism, with variants like rs3740390, rs11191439, and rs11191453 altering urinary arsenic metabolite concentrations and potentially affecting disease susceptibility 3. A human-specific AS3MT isoform (AS3MTd2d3) lacks methyltransferase activity but is associated with schizophrenia risk through the 10q24.32 locus 4. This isoform disrupts mitotic spindle orientation and neural differentiation during brain development, leading to altered cell fate decisions and behavioral deficits in transgenic mouse models 5. AS3MT polymorphisms are also linked to type 2 diabetes risk in arsenic-exposed populations, highlighting its broader role in arsenic-related health outcomes 6.

Sources cited
1
AS3MT catalyzes sequential methylation of arsenicals using S-adenosylmethionine, converting arsenite to less toxic dimethylarsinate
PMID: 16407288
2
AS3MT shows tissue-specific expression regulated by Sp1 transcription factor binding to promoter GC box
PMID: 33956289
3
AS3MT polymorphisms rs3740390, rs11191439, and rs11191453 significantly alter urinary arsenic metabolite concentrations
PMID: 24792412
4
Human-specific AS3MTd2d3 isoform lacks methyltransferase activity and is associated with schizophrenia risk
PMID: 27158905
5
AS3MTd2d3 disrupts mitotic spindle orientation and neural differentiation, causing behavioral deficits
PMID: 40153497
6
AS3MT polymorphisms are linked to type 2 diabetes risk in arsenic-exposed populations
PMID: 37889428
Disease Associationsⓘ20
schizophreniaOpen Targets
0.46Moderate
Abnormality of the skeletal systemOpen Targets
0.36Weak
smoking initiationOpen Targets
0.35Weak
hypertensionOpen Targets
0.33Weak
alcohol drinkingOpen Targets
0.33Weak
intelligenceOpen Targets
0.32Weak
goutOpen Targets
0.32Weak
bipolar disorderOpen Targets
0.29Weak
autism spectrum disorderOpen Targets
0.27Weak
insomniaOpen Targets
0.27Weak
gastroesophageal reflux diseaseOpen Targets
0.26Weak
attention deficit hyperactivity disorderOpen Targets
0.25Weak
major depressive disorderOpen Targets
0.23Weak
anorexia nervosaOpen Targets
0.22Weak
obsessive-compulsive disorderOpen Targets
0.22Weak
Tourette syndromeOpen Targets
0.22Weak
morbid obesityOpen Targets
0.15Weak
nicotine dependenceOpen Targets
0.13Weak
risk-taking behaviourOpen Targets
0.13Weak
coronary artery diseaseOpen Targets
0.10Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
BORCS7Protein interaction85%CNNM2Protein interaction82%HEMK2Shared pathway40%INMTShared pathway33%COQ5Shared pathway33%ASMTShared pathway33%
Tissue Expression6 tissues
Liver
100%
Heart
59%
Brain
43%
Ovary
35%
Lung
12%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
AS3MTBORCS7CNNM2HEMK2INMTCOQ5ASMT
PROTEIN STRUCTURE
Preparing viewer…
PDB8XT7 · 2.59 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.26LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.97 [0.76–1.26]
RankingsWhere AS3MT stands among ~20K protein-coding genes
  • #4,466of 20,598
    Most Researched106 · top quartile
  • #13,281of 17,882
    Most Constrained (LOEUF)1.26
Genes detectedAS3MT
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genetic Influence of the Brain on Muscle Structure: A Mendelian Randomization Study of Sarcopenia.
PMID: 39535371
J Cachexia Sarcopenia Muscle · 2025
1.00
2
Association Between Arsenic Toxicity, AS3MT Gene Polymorphism and Onset of Type 2 Diabetes.
PMID: 37889428
Biol Trace Elem Res · 2024
0.90
3
AS3MT, GSTO, and PNP polymorphisms: impact on arsenic methylation and implications for disease susceptibility.
PMID: 24792412
Environ Res · 2014
0.80
4
Regulation of arsenic methylation: identification of the transcriptional region of the human AS3MT gene.
PMID: 33956289
Cell Biol Toxicol · 2022
0.70
5
A human-specific AS3MT isoform and BORCS7 are molecular risk factors in the 10q24.32 schizophrenia-associated locus.
PMID: 27158905
Nat Med · 2016
0.60