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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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HNMT
histamine N-methyltransferase
Chromosome 2 Β· 2q22.1
NCBI Gene: 3176Ensembl: ENSG00000150540.15HGNC: HGNC:5028UniProt: B4DWC1
83PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cytosolextracellular exosomehistamine N-methyltransferase activityhistamine metabolic processautosomal recessive non-syndromic intellectual disabilityself-injurious ideationplacenta praeviaAbnormality of the gastrointestinal tract
✦AI Summary

HNMT (histamine N-methyltransferase) is a cytoplasmic enzyme that serves as the primary mechanism for histamine inactivation through N-methylation 1. The enzyme plays a crucial role in histamine catabolism and regulates histamine-mediated physiological responses, particularly in the respiratory system. HNMT is essential for maintaining brain histamine homeostasis, as demonstrated by studies showing that HNMT deficiency results in robust increases in brain histamine concentrations 2. The most clinically relevant polymorphism is rs11558538 (Thr105Ile), which occurs with significant frequency across populations 1. This polymorphism has been associated with reduced risk for Parkinson's disease, with meta-analysis showing protective effects (odds ratio 0.61-0.63) 3. HNMT expression changes have been detected in peripheral blood of early-stage Parkinson's disease patients, suggesting potential involvement in disease pathogenesis 4. The enzyme has also been implicated in cardiovascular disease, with studies identifying HNMT in diabetic vascular metabolic reprogramming 5. Additionally, HNMT shows potential as a biomarker for Parkinson's disease prediction, demonstrating significant association in large-scale proteomic analyses 6. However, functional validation studies suggest HNMT knockout does not significantly affect doxorubicin-induced cardiotoxicity in cardiomyocytes 7.

Sources cited
1
HNMT inactivates histamine through N-methylation and rs11558538 (Thr105Ile) is the most relevant polymorphism
PMID: 19450133
2
HNMT is essential for brain histamine homeostasis and its deficiency increases brain histamine concentrations
PMID: 30744146
3
HNMT rs11558538 polymorphism is associated with reduced Parkinson's disease risk
PMID: 27399132
4
HNMT expression changes are detected in peripheral blood of early-stage Parkinson's disease patients
PMID: 38027039
5
HNMT participates in diabetic vascular metabolic reprogramming
PMID: 39395983
6
HNMT shows significant association as potential Parkinson's disease biomarker
PMID: 39979637
7
HNMT knockout has no significant effect on doxorubicin-induced cardiotoxicity
PMID: 38510289
Disease Associationsβ“˜21
autosomal recessive non-syndromic intellectual disabilityOpen Targets
0.54Moderate
self-injurious ideationOpen Targets
0.32Weak
placenta praeviaOpen Targets
0.31Weak
Abnormality of the gastrointestinal tractOpen Targets
0.31Weak
myopathyOpen Targets
0.30Weak
prostate cancerOpen Targets
0.29Weak
smoking initiationOpen Targets
0.27Weak
Abnormal male internal genitalia morphologyOpen Targets
0.22Weak
alopecia areataOpen Targets
0.22Weak
post-traumatic stress disorderOpen Targets
0.20Weak
glioblastoma multiformeOpen Targets
0.17Weak
attention deficit hyperactivity disorderOpen Targets
0.15Weak
substance-related disorderOpen Targets
0.15Weak
obesityOpen Targets
0.15Weak
placental retentionOpen Targets
0.14Weak
ovarian dysfunctionOpen Targets
0.14Weak
breast diseaseOpen Targets
0.13Weak
male reproductive system diseaseOpen Targets
0.13Weak
pulmonary arterial hypertensionOpen Targets
0.12Weak
substance abuseOpen Targets
0.12Weak
Intellectual developmental disorder, autosomal recessive 51UniProt
Pathogenic Variants2
NM_006895.3(HNMT):c.623T>C (p.Leu208Pro)Likely pathogenic
Intellectual disability, autosomal recessive 51
β˜…β˜†β˜†β˜†2024β†’ Residue 208
NM_006895.3(HNMT):c.179G>A (p.Gly60Asp)Pathogenic
Intellectual disability, autosomal recessive 51
β˜†β˜†β˜†β˜†2015β†’ Residue 60
View on ClinVar β†—
Related Genes
WDR5Protein interaction100%HCFC1Protein interaction100%RBBP5Protein interaction100%ASH2LProtein interaction100%WDR82Protein interaction100%SETD1BProtein interaction100%
Tissue Expression6 tissues
Liver
100%
Ovary
58%
Heart
24%
Lung
22%
Bone Marrow
12%
Brain
10%
Gene Interaction Network
Click a node to explore
HNMTWDR5HCFC1RBBP5ASH2LWDR82SETD1B
PROTEIN STRUCTURE
Preparing viewer…
PDB2AOT Β· 1.90 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.57LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.00 [0.65–1.57]
RankingsWhere HNMT stands among ~20K protein-coding genes
  • #5,731of 20,598
    Most Researched83
  • #4,348of 5,498
    Most Pathogenic Variants2
  • #15,532of 17,882
    Most Constrained (LOEUF)1.57
Genes detectedHNMT
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Large-scale proteomic analyses of incident Parkinson's disease reveal new pathophysiological insights and potential biomarkers.
PMID: 39979637
Nat Aging Β· 2025
1.00
2
Spatial multiomics atlas reveals smooth muscle phenotypic transformation and metabolic reprogramming in diabetic macroangiopathy.
PMID: 39395983
Cardiovasc Diabetol Β· 2024
0.90
3
Histamine pharmacogenomics.
PMID: 19450133
Pharmacogenomics Β· 2009
0.80
4
Thr105Ile (rs11558538) polymorphism in the histamine N-methyltransferase (HNMT) gene and risk for Parkinson disease: A PRISMA-compliant systematic review and meta-analysis.
PMID: 27399132
Medicine (Baltimore) Β· 2016
0.70
5
Functional Validation of Doxorubicin-Induced Cardiotoxicity-Related Genes.
PMID: 38510289
JACC CardioOncol Β· 2024
0.60