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
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
194933492009118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects.62
191611602009An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1).30
182306052008Betaine-homocysteine S-methyltransferase-2 is an S-methylmethionine-homocysteine methyltransferase.23
197377402010Associations of folate and choline metabolism gene polymorphisms with orofacial clefts.23
128184022003Investigations of a common genetic variant in betaine-homocysteine methyltransferase (BHMT) in coronary artery disease.21
186356822008Genetic analysis of 56 polymorphisms in 17 genes involved in methionine metabolism in patients with abdominal aortic aneurysm.20
190486312009Oral facial clefts and gene polymorphisms in metabolism of folate/one-carbon and vitamin A: a pathway-wide association study.20
206348912010Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.18
184579702008Human betaine-homocysteine methyltransferase (BHMT) and BHMT2: common gene sequence variation and functional characterization.17

Citation

Dessen P

BHMT2 (betaine--homocysteine S-methyltransferase 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-01-01

Online version: http://atlasgeneticsoncology.org/gene/53650/bhmt2