BHMT2 (betaine--homocysteine S-methyltransferase 2)

2014-01-01  

Identity

HGNC
LOCATION
5q14.1
LOCUSID
ALIAS
-
FUSION GENES

Other Information

Locus ID:

NCBI: 23743
MIM: 605932
HGNC: 1048
Ensembl: ENSG00000132840

Variants:

dbSNP: 23743
ClinVar: 23743
TCGA: ENSG00000132840
COSMIC: BHMT2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000132840ENST00000255192Q9H2M3
ENSG00000132840ENST00000255192A0A024RAQ0
ENSG00000132840ENST00000518666E5RH96
ENSG00000132840ENST00000519743E5RGH5
ENSG00000132840ENST00000521567Q9H2M3

Expression (GTEx)

0
50
100
150
200
250

Pathways

PathwaySourceExternal ID
Cysteine and methionine metabolismKEGGko00270
Cysteine and methionine metabolismKEGGhsa00270
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Sulfur amino acid metabolismREACTOMER-HSA-1614635

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
358359022023Association of Maternal Betaine-Homocysteine Methyltransferase (BHMT) and BHMT2 Genes Polymorphisms with Congenital Heart Disease in Offspring.3
358359022023Association of Maternal Betaine-Homocysteine Methyltransferase (BHMT) and BHMT2 Genes Polymorphisms with Congenital Heart Disease in Offspring.3
293563062018Evidence of interaction between genes in the folate/homocysteine metabolic pathway in controlling risk of non-syndromic oral cleft.5
293563062018Evidence of interaction between genes in the folate/homocysteine metabolic pathway in controlling risk of non-syndromic oral cleft.5
266124122016A Three-Way Interaction among Maternal and Fetal Variants Contributing to Congenital Heart Defects.3
266124122016A Three-Way Interaction among Maternal and Fetal Variants Contributing to Congenital Heart Defects.3
258464102015Obstructive heart defects associated with candidate genes, maternal obesity, and folic acid supplementation.21
262139992015Evolutionary Analyses and Natural Selection of Betaine-Homocysteine S-Methyltransferase (BHMT) and BHMT2 Genes.5
258464102015Obstructive heart defects associated with candidate genes, maternal obesity, and folic acid supplementation.21
262139992015Evolutionary Analyses and Natural Selection of Betaine-Homocysteine S-Methyltransferase (BHMT) and BHMT2 Genes.5
215643122011New evidence for the role of cystathionine beta-synthase in non-syndromic cleft lip with or without cleft palate.0
215643122011New evidence for the role of cystathionine beta-synthase in non-syndromic cleft lip with or without cleft palate.0
197377402010Associations of folate and choline metabolism gene polymorphisms with orofacial clefts.25
204584362010Early-onset ischaemic stroke: analysis of 58 polymorphisms in 17 genes involved in methionine metabolism.18
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15

Citation

Dessen P

BHMT2 (betaine--homocysteine S-methyltransferase 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-01-01

Online version: http://atlasgeneticsoncology.org/gene/53650/teaching-explorer/tumors-explorer/