Gene Gene information from NCBI Gene database.
Entrez ID 23743
Gene name Betaine--homocysteine S-methyltransferase 2
Gene symbol BHMT2
Synonyms (NCBI Gene)
-
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
miRNA miRNA information provided by mirtarbase database.
603
miRTarBase ID miRNA Experiments Reference
MIRT685728 hsa-miR-106a-5p HITS-CLIP 23313552
MIRT685727 hsa-miR-106b-5p HITS-CLIP 23313552
MIRT685726 hsa-miR-17-5p HITS-CLIP 23313552
MIRT685725 hsa-miR-20a-5p HITS-CLIP 23313552
MIRT685724 hsa-miR-20b-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
GO ID Ontology Definition Evidence Reference
GO:0005829 Component Cytosol IBA
GO:0005829 Component Cytosol TAS
GO:0006575 Process Modified amino acid metabolic process IEA
GO:0006577 Process Amino-acid betaine metabolic process IDA 18230605
GO:0008168 Function Methyltransferase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605932 1048 ENSG00000132840
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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

Accession ID Position in sequence Description Type
PF02574 S-methyl_trans 23 305 Homocysteine S-methyltransferase Family
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
Sequence length 363
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cysteine and methionine metabolism
One carbon pool by folate
Metabolic pathways
Folate transport and metabolism
  Sulfur amino acid metabolism
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
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)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Clear cell carcinoma of kidney Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CLEFT LIP CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CLEFT PALATE CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CLEFT UPPER LIP Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Celiac Disease Associate 21688148
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Associate 26108676
★☆☆☆☆
Found in Text Mining only
Folate Malabsorption Hereditary Associate 26108676
★☆☆☆☆
Found in Text Mining only
Heart Defects Congenital Associate 25846410, 26612412
★☆☆☆☆
Found in Text Mining only
Obesity Associate 25856673
★☆☆☆☆
Found in Text Mining only
Vascular Diseases Associate 21688148
★☆☆☆☆
Found in Text Mining only