MTHFS (methenyltetrahydrofolate synthetase)

2014-11-01  

Identity

HGNC
LOCATION
15q25.1
LOCUSID
ALIAS
HsT19268,NEDMEHM
FUSION GENES

Other Information

Locus ID:

NCBI: 10588
MIM: 604197
HGNC: 7437
Ensembl: ENSG00000136371

Variants:

dbSNP: 10588
ClinVar: 10588
TCGA: ENSG00000136371
COSMIC: MTHFS

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000136371ENST00000258874P49914
ENSG00000136371ENST00000559722A0A0U1RQM3
ENSG00000136371ENST00000560261H3BMB9
ENSG00000136371ENST00000560919H3BN04

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100

Pathways

PathwaySourceExternal ID
One carbon pool by folateKEGGko00670
One carbon pool by folateKEGGhsa00670
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Metabolism of folate and pterinesREACTOMER-HSA-196757

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
171191162007Gene-nutrient interactions among determinants of folate and one-carbon metabolism on the risk of non-Hodgkin lymphoma: NCI-SEER case-control study.32
191611602009An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1).30
199369462010Germline polymorphisms in the one-carbon metabolism pathway and DNA methylation in colorectal cancer.23
178915002007One-carbon metabolism gene polymorphisms and risk of non-Hodgkin lymphoma in Australia.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
127641492005The 'regulatory' beta-subunit of protein kinase CK2 negatively influences p53-mediated allosteric effects on Chk2 activation.17
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
205709132010Genetic variation in TYMS in the one-carbon transfer pathway is associated with ovarian carcinoma types in the Ovarian Cancer Association Consortium.14
188302632009Polymorphisms in DNA repair and one-carbon metabolism genes and overall survival in diffuse large B-cell lymphoma and follicular lymphoma.13

Citation

Dessen P

MTHFS (methenyltetrahydrofolate synthetase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70550/mthfs