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GeneE
0 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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BHMT2
betaine--homocysteine S-methyltransferase 2
Chromosome 5 Β· 5q14.1
NCBI Gene: 23743Ensembl: ENSG00000132840.11HGNC: HGNC:1048UniProt: Q9H2M3
37PubMed Papers
20Diseases
1Drugs
0Pathogenic Variants
CLINICAL
FDA Approved Target
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
betaine-homocysteine S-methyltransferase activityamino-acid betaine metabolic processS-methylmethionine metabolic processS-adenosylmethionine metabolic processhomocystinurianeurodegenerative diseasemajor depressive disorderinborn errors of metabolism
✦AI Summary

AI summary not yet available. Showing NCBI Gene summary.

betaine--homocysteine S-methyltransferase 2

⚠Limited data available β€” This gene has 0 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
homocystinuriaOpen Targets
0.54Moderate
neurodegenerative diseaseOpen Targets
0.49Moderate
inborn errors of metabolismOpen Targets
0.37Weak
major depressive disorderOpen Targets
0.37Weak
peroxisome biogenesis disorderOpen Targets
0.26Weak
xerostomiaOpen Targets
0.26Weak
spondylolisthesisOpen Targets
0.10Suggestive
obesityOpen Targets
0.07Suggestive
non-alcoholic steatohepatitisOpen Targets
0.07Suggestive
primary hyperoxaluriaOpen Targets
0.07Suggestive
syringomyeliaOpen Targets
0.07Suggestive
joint diseaseOpen Targets
0.05Suggestive
necrotizing enterocolitisOpen Targets
0.04Suggestive
male infertilityOpen Targets
0.04Suggestive
colorectal carcinomaOpen Targets
0.03Suggestive
transitional cell carcinoma of kidneyOpen Targets
0.03Suggestive
type 2 diabetes mellitusOpen Targets
0.03Suggestive
connective tissue neoplasmOpen Targets
0.03Suggestive
tricuspid valve diseaseOpen Targets
0.03Suggestive
stomach diseaseOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Drug Targets1
BETAINEApproved
Betaine-homocysteine S-methyltransferase substrate
homocystinuria
Related Genes
AHCYProtein interaction98%BHMTProtein interaction98%CBSProtein interaction98%KYAT1Protein interaction98%CTHProtein interaction98%MAT1AProtein interaction98%
Tissue Expression6 tissues
Liver
100%
Heart
2%
Ovary
2%
Lung
1%
Brain
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
BHMT2AHCYBHMTCBSKYAT1CTHMAT1A
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q9H2M3
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.01LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.75 [0.56–1.01]
RankingsWhere BHMT2 stands among ~20K protein-coding genes
  • #10,590of 20,598
    Most Researched37
  • #1,013of 1,025
    FDA-Approved Drug Targets1
  • #9,891of 17,882
    Most Constrained (LOEUF)1.01
Genes detectedBHMT2
Sources retrieved0 papers
Response timeβ€”