BHMT (betaine--homocysteine S-methyltransferase)

2010-01-01  

Identity

HGNC
LOCATION
5q14.1
LOCUSID
ALIAS
BHMT1,HEL-S-61p
FUSION GENES

Other Information

Locus ID:

NCBI: 635
MIM: 602888
HGNC: 1047
Ensembl: ENSG00000145692

Variants:

dbSNP: 635
ClinVar: 635
TCGA: ENSG00000145692
COSMIC: BHMT

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000145692ENST00000274353Q93088
ENSG00000145692ENST00000274353V9HWA4
ENSG00000145692ENST00000524080E5RJH0

Expression (GTEx)

0
50
100
150
200
250
300
350

Pathways

PathwaySourceExternal ID
Glycine, serine and threonine metabolismKEGGko00260
Glycine, serine and threonine metabolismKEGGhsa00260
Cysteine and methionine metabolismKEGGko00270
Cysteine and methionine metabolismKEGGhsa00270
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Phospholipid metabolismREACTOMER-HSA-1483257
Glycerophospholipid biosynthesisREACTOMER-HSA-1483206
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Sulfur amino acid metabolismREACTOMER-HSA-1614635
Choline catabolismREACTOMER-HSA-6798163

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
372038352023BHMT polymorphism and susceptibility to PTE in Chinese patients.0
372038352023BHMT polymorphism and susceptibility to PTE in Chinese patients.0
338940442021Interaction analysis of gene variants related to one-carbon metabolism with chronic hepatitis B infection in Chinese patients.1
339753302021The BHMT-betaine methylation pathway epigenetically modulates oligodendrocyte maturation.8
338940442021Interaction analysis of gene variants related to one-carbon metabolism with chronic hepatitis B infection in Chinese patients.1
339753302021The BHMT-betaine methylation pathway epigenetically modulates oligodendrocyte maturation.8
310445292020Associations between folate and choline intake, homocysteine metabolism, and genetic polymorphism of MTHFR, BHMT and PEMT in healthy pregnant Polish women.3
310445292020Associations between folate and choline intake, homocysteine metabolism, and genetic polymorphism of MTHFR, BHMT and PEMT in healthy pregnant Polish women.3
314513442019Association of Betaine-Homocysteine S-Methyl Transferase (rs3797546 and rs3733890) polymorphisms with non-syndromic cleft lip/palate: A meta-analysis.3
315587612019Association between BHMT and CBS gene promoter methylation with the efficacy of folic acid therapy in patients with hyperhomocysteinemia.4
314513442019Association of Betaine-Homocysteine S-Methyl Transferase (rs3797546 and rs3733890) polymorphisms with non-syndromic cleft lip/palate: A meta-analysis.3
315587612019Association between BHMT and CBS gene promoter methylation with the efficacy of folic acid therapy in patients with hyperhomocysteinemia.4
293563062018Evidence of interaction between genes in the folate/homocysteine metabolic pathway in controlling risk of non-syndromic oral cleft.5
294075472018Genetic variants of the folate metabolic system and mild hyperhomocysteinemia may affect ADHD associated behavioral problems.4
293563062018Evidence of interaction between genes in the folate/homocysteine metabolic pathway in controlling risk of non-syndromic oral cleft.5

Citation

Dessen P

BHMT (betaine--homocysteine S-methyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2010-01-01

Online version: http://atlasgeneticsoncology.org/gene/51288/bhmt