BHMT2 (betaine--homocysteine S-methyltransferase 2)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 23743 |
| Gene name | Betaine--homocysteine S-methyltransferase 2 |
| Gene symbol | BHMT2 |
| Synonyms (NCBI Gene) |
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| Chromosome | 5 |
| Chromosome location | 5q14.1 |
| Summary | Homocysteine is a sulfur-containing amino acid that plays a crucial role in methylation reactions. Transfer of the methyl group from betaine to homocysteine creates methionine, which donates the methyl group to methylate DNA, proteins, lipids, and other i |
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miRNA
miRNA information provided by mirtarbase database.
603
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q9H2M3 | ||||||||||
| Protein name | S-methylmethionine--homocysteine S-methyltransferase BHMT2 (SMM-hcy methyltransferase) (EC 2.1.1.10) (Betaine--homocysteine S-methyltransferase 2) | ||||||||||
| Protein function | Involved in the regulation of homocysteine metabolism. Converts homocysteine to methionine using S-methylmethionine (SMM) as a methyl donor. | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Expressed in liver and kidney and at reduced levels in the brain, heart, and skeletal muscle. {ECO:0000269|PubMed:11087663}. | ||||||||||
| Sequence |
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| Sequence length | 363 | ||||||||||
| Interactions | View interactions | ||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Evidence Score:
★☆☆☆☆ Gene-disease association found in Text Mining only
★★☆☆☆ Found in Text Mining and Unknown/Other Associations
★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources
★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
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