BHMT2 Gene - Betaine-Homocysteine S-Methyltransferase 2
A key enzyme in homocysteine metabolism and methyl group transfer
Gene Information Card
| Symbol | BHMT2 |
|---|---|
| Full Name | Betaine-Homocysteine S-Methyltransferase 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q13.1 |
| NCBI Gene ID | 23743 ncbi.nlm.nih.gov/gene/23743 |
| Ensembl ID | ENSG00000132825 |
| UniProt ID | Q9H2M3 |
| OMIM ID | 605932 |
| HGNC ID | 1048 |
| Aliases | BHMT-2, betaine-homocysteine methyltransferase 2 |
Description
The BHMT2 gene encodes betaine-homocysteine S-methyltransferase 2, an enzyme that catalyzes the transfer of a methyl group from betaine to homocysteine, producing methionine and dimethylglycine. This reaction is part of the methionine cycle and is important for homocysteine homeostasis and methylation reactions. BHMT2 is primarily expressed in the liver and kidney.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Homocystinuria | Deficiency in BHMT2 may impair homocysteine remethylation, leading to elevated homocysteine levels. | OMIM #236200 |
| Neural tube defects | Variants in BHMT2 may alter homocysteine metabolism, contributing to risk. | PMID: 17999358 |
| Cardiovascular disease | Elevated homocysteine due to BHMT2 dysfunction is a risk factor. | PMID: 12499331 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 24.5 | High |
| Kidney | 12.3 | Medium |
| Testis | 3.1 | Low |
| Brain | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 18.7 | Liver cancer cell line |
| HEK293 | 2.4 | Embryonic kidney cells |
| K562 | 0.8 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.716G>A (p.Arg239Gln) | Missense | 0.01% | Reduced enzyme activity |
| c.1045C>T (p.Arg349Trp) | Missense | 0.005% | Unknown functional impact |
| c.1A>G (p.Met1Val) | Start loss | 0.001% | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense variants such as p.Arg239Gln reduce catalytic activity, impairing homocysteine remethylation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • cytoplasm (GO:0005737) | • betaine-homocysteine S-methyltransferase activity (GO:0008898) |
| • methionine biosynthetic process (GO:0009086) | • transsulfuration (GO:0019346) |
| • methylation (GO:0032259) |
Pathways
• Homocysteine metabolism (Reactome: R-HSA-1614558)
• Methionine salvage pathway (KEGG: hsa00270)
• Betaine metabolism (WikiPathways: WP4243)
Protein Summary
BHMT2 is a 363-amino acid protein that functions as a homotetramer. It uses betaine as a methyl donor to convert homocysteine to methionine, playing a critical role in maintaining cellular methylation potential and homocysteine levels. The enzyme is predominantly expressed in liver and kidney tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BHMT2 Knockout HEK293 Cell Line | EDJ-KQ8129 | Human | 23743 | Details Get a Quote |
| BHMT2 Knockout HeLa Cell Line | EDJ-KQ55800 | Human | 23743 | Details Get a Quote |
| BHMT2 Knockout A-549 Cell Line | EDJ-KQ64296 | Human | 23743 | Details Get a Quote |
| BHMT2 Knockout HCT 116 Cell Line | EDJ-KQ72745 | Human | 23743 | Details Get a Quote |
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