MTHFSD (methenyltetrahydrofolate synthetase domain containing)

2014-11-01  

Identity

HGNC
LOCATION
16q24.1
LOCUSID
ALIAS
-

Other Information

Locus ID:

NCBI: 64779
MIM: 616820
HGNC: 25778
Ensembl: ENSG00000103248

Variants:

dbSNP: 64779
ClinVar: 64779
TCGA: ENSG00000103248
COSMIC: MTHFSD

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000103248ENST00000360900Q2M296
ENSG00000103248ENST00000381214Q2M296
ENSG00000103248ENST00000543303Q2M296
ENSG00000103248ENST00000546093F5H0M7
ENSG00000103248ENST00000561522H3BML0
ENSG00000103248ENST00000561989H3BP93
ENSG00000103248ENST00000562940H3BSD1
ENSG00000103248ENST00000562994H3BSB5
ENSG00000103248ENST00000564364H3BVG2
ENSG00000103248ENST00000565482H3BUU0
ENSG00000103248ENST00000566050H3BSW8
ENSG00000103248ENST00000566469H3BQU0
ENSG00000103248ENST00000567539H3BMX6
ENSG00000103248ENST00000568037A0A087WX22
ENSG00000103248ENST00000568798H3BPD2
ENSG00000103248ENST00000569000H3BNE5
ENSG00000103248ENST00000634347Q2M296

Expression (GTEx)

0
5
10
15
20

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
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11

Citation

Dessen P

MTHFSD (methenyltetrahydrofolate synthetase domain containing)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70551/mthfsd