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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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BHMT
betaine--homocysteine S-methyltransferase
Chromosome 5 · 5q14.1
NCBI Gene: 635Ensembl: ENSG00000145692.16HGNC: HGNC:1047UniProt: Q93088
105PubMed Papers
20Diseases
1Drugs
0Pathogenic Variants
CLINICAL
FDA Approved Target
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
'de novo' L-methionine biosynthetic processL-methionine salvagezinc ion bindingextracellular exosomehomocystinuriatype 2 diabetes mellitusinborn errors of metabolismmajor depressive disorder
✦AI Summary

BHMT (betaine-homocysteine S-methyltransferase) is a cytosolic methyltransferase that catalyzes the remethylation of homocysteine to methionine using betaine as a methyl donor, producing dimethylglycine 1. This reaction is essential for homocysteine metabolism and contributes to S-adenosylmethionine (SAM) synthesis, the primary methyl group donor for cellular methylation reactions 2. Mechanistically, BHMT activity is regulated by phosphorylation at threonine 45 by the protein kinase RIMKLA, which activates BHMT to reduce homocysteine levels and suppress fatty acid synthesis gene expression 3. Beyond its cytosolic function, BHMT undergoes nutrient-dependent unconventional secretion from hepatocytes into plasma under specific metabolic conditions 4. Additionally, BHMT participates in autophagosome-lysosome fusion complexes, contributing to cellular radioresistance in glioblastoma through interaction with SDC1, TGM2, and FLOT1 5. In disease context, BHMT expression is significantly reduced in hepatocellular carcinoma (HCC) through abnormal splicing generating loss-of-function transcripts 2. BHMT alterations, reflected in differential ubiquitination levels, serve as prognostic biomarkers associated with aggressive HCC subtypes and poor survival 6. Conversely, BHMT activation ameliorates nonalcoholic fatty liver disease by suppressing hepatic lipid metabolism 3. Common BHMT genetic polymorphisms show functional variation in enzyme kinetics but lack significant association with coronary artery disease risk 17.

Sources cited
1
BHMT catalyzes homocysteine remethylation; characterization of common genetic variants and BHMT2 function
PMID: 18457970
2
BHMT expression is reduced in HCC through abnormal splicing with loss of function
PMID: 23449526
3
RIMKLA phosphorylates BHMT at Thr45 to activate it, suppressing homocysteine and lipid synthesis in hepatocytes
PMID: 39117631
4
BHMT undergoes nutrient-dependent unconventional secretion from hepatocytes into blood plasma
PMID: 33199915
5
BHMT participates in SDC1-TGM2-FLOT1-BHMT complex regulating autophagosome-lysosome fusion and glioblastoma radioresistance
PMID: 37441590
6
BHMT differential ubiquitination is associated with aggressive HCC subtypes and serves as a prognostic biomarker
PMID: 39348425
7
BHMT G742A polymorphism shows no significant association with coronary artery disease risk
PMID: 22339686
Disease Associationsⓘ20
homocystinuriaOpen Targets
0.54Moderate
type 2 diabetes mellitusOpen Targets
0.38Weak
inborn errors of metabolismOpen Targets
0.37Weak
major depressive disorderOpen Targets
0.37Weak
diabetes mellitusOpen Targets
0.30Weak
peroxisome biogenesis disorderOpen Targets
0.26Weak
xerostomiaOpen Targets
0.26Weak
metabolic syndromeOpen Targets
0.23Weak
diabetic neuropathyOpen Targets
0.14Weak
hepatocellular carcinomaOpen Targets
0.09Suggestive
obesityOpen Targets
0.08Suggestive
non-alcoholic steatohepatitisOpen Targets
0.07Suggestive
primary hyperoxaluriaOpen Targets
0.07Suggestive
syringomyeliaOpen Targets
0.07Suggestive
glycogen storage disease VIOpen Targets
0.06Suggestive
neonatal intrahepatic cholestasis due to citrin deficiencyOpen Targets
0.05Suggestive
Hyperlipoproteinemia type 1Open Targets
0.05Suggestive
hemoglobin D diseaseOpen Targets
0.05Suggestive
congenital disorder of glycosylation type IIOpen Targets
0.05Suggestive
dominant beta-thalassemiaOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Drug Targets1
BETAINEApproved
Betaine-homocysteine S-methyltransferase substrate
homocystinuria
Related Genes
MTRProtein interaction99%DMGDHProtein interaction99%AHCYProtein interaction99%CNPY3-GNMTProtein interaction99%CBSProtein interaction99%CTHProtein interaction98%
Tissue Expression6 tissues
Liver
100%
Ovary
0%
Brain
0%
Lung
0%
Bone Marrow
0%
Heart
0%
Gene Interaction Network
Click a node to explore
BHMTMTRDMGDHAHCYCNPY3-GNMTCBSCTH
PROTEIN STRUCTURE
Preparing viewer…
PDB4M3P · 1.90 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.88LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.66 [0.50–0.88]
RankingsWhere BHMT stands among ~20K protein-coding genes
  • #4,514of 20,598
    Most Researched105 · top quartile
  • #944of 1,025
    FDA-Approved Drug Targets1
  • #7,878of 17,882
    Most Constrained (LOEUF)0.88
Genes detectedBHMT
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Cell type-selective secretome profiling in vivo.
PMID: 33199915
Nat Chem Biol · 2021
1.00
2
Integrated ubiquitomics characterization of hepatocellular carcinomas.
PMID: 39348425
Hepatology · 2025
0.90
3
Pleiotropic effects of methionine adenosyltransferases deregulation as determinants of liver cancer progression and prognosis.
PMID: 23665184
J Hepatol · 2013
0.80
4
SDC1-TGM2-FLOT1-BHMT complex determines radiosensitivity of glioblastoma by influencing the fusion of autophagosomes with lysosomes.
PMID: 37441590
Theranostics · 2023
0.70
5
Ribosomal modification protein rimK-like family member A activates betaine-homocysteine S-methyltransferase 1 to ameliorate hepatic steatosis.
PMID: 39117631
Signal Transduct Target Ther · 2024
0.60