BHMT2 — betaine--homocysteine S-methyltransferase 2

5 sources retrieved · Most recent: April 2026 · Index updated 3 months ago

37PubMed Papers

#10,637 · top 55% of 19K genes

20Diseases

top 59%

1Drugs

top 98%

0Pathogenic Variants

FDA Approved TargetExperimental GO EvidenceSwiss-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 — This gene has 0 indexed publications. Summary and analysis may be incomplete.

Disease Associations20

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.

Drug Targets01

BETAINEApproved

Betaine-homocysteine S-methyltransferase substrate

homocystinuria

Related Genes

No related genes found for this gene.

Tissue Expression6 tissues

Liver

100%

Heart

Ovary

Lung

Brain

Bone Marrow

Gene Interaction Network

No interaction data available for this gene.

StructureAlphaFold

Preparing viewer…

AlphaFoldAI-predicted · UniProt Q9H2M3

View on AlphaFold

ConstraintgnomAD v4.1

LOEUFⓘ

1.01LoF Tolerant

pLIⓘ

0.00Tolerant

Observed/Expected LoF0.75 [0.56–1.01]

Rankings3 dim

Where 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