MTHFD2L (methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2 like)

2014-11-01  

Identity

HGNC
MTHFD2L
LOCATION
4q13.3
LOCUSID
441024
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 441024
MIM: 614047
HGNC: 31865
Ensembl: ENSG00000163738

Variants:

dbSNP: 441024
ClinVar: 441024
TCGA: ENSG00000163738
COSMIC: MTHFD2L

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000163738ENST00000325278Q9H903
ENSG00000163738ENST00000325278A0A024RDE0
ENSG00000163738ENST00000359107F8W7P9
ENSG00000163738ENST00000395759Q9H903
ENSG00000163738ENST00000423607Q8IY64
ENSG00000163738ENST00000429335Q8IY64
ENSG00000163738ENST00000429519Q9H903
ENSG00000163738ENST00000433372A0A0C4DG60

Expression (GTEx)

0
1
2
3
4
5
6
7
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
One carbon pool by folateKEGGko00670
One carbon pool by folateKEGGhsa00670
Metabolic pathwaysKEGGhsa01100
C1-unit interconversion, eukaryotesKEGGhsa_M00141
C1-unit interconversion, eukaryotesKEGGM00141
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
N/A

References

Pubmed IDYearTitleCitations
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17

Citation

Dessen P

MTHFD2L (methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2 like)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70548/mthfd2l