MTHFD2 (methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase)

2015-02-01  

Identity

HGNC
MTHFD2
LOCATION
2p13.1
LOCUSID
10797
ALIAS
NMDMC
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10797
MIM: 604887
HGNC: 7434
Ensembl: ENSG00000065911

Variants:

dbSNP: 10797
ClinVar: 10797
TCGA: ENSG00000065911
COSMIC: MTHFD2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000065911ENST00000394053P13995
ENSG00000065911ENST00000409601B8ZZU9
ENSG00000065911ENST00000409804B9A062
ENSG00000065911ENST00000470592F8WF89
ENSG00000065911ENST00000489041F8WF06

Expression (GTEx)

0
50
100
150
200
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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
382878242024Downregulation of MTHFD2 Inhibits Proliferation and Enhances Chemosensitivity in Hepatocellular Carcinoma via PI3K/AKT Pathway.0
384220372024Implications of MTHFD2 expression in renal cell carcinoma aggressiveness.0
387231972024MTHFD2-mediated redox homeostasis promotes gastric cancer progression under hypoxic conditions.0
382878242024Downregulation of MTHFD2 Inhibits Proliferation and Enhances Chemosensitivity in Hepatocellular Carcinoma via PI3K/AKT Pathway.0
384220372024Implications of MTHFD2 expression in renal cell carcinoma aggressiveness.0
387231972024MTHFD2-mediated redox homeostasis promotes gastric cancer progression under hypoxic conditions.0
364933922023MTHFD2 suppresses glioblastoma progression via the inhibition of ERK1/2 phosphorylation.2
366017412023Upregulation of MTHFD2 is associated with PD‑L1 activation in bladder cancer via the PI3K/AKT pathway.4
374848072023SNHG3/hsa-miR-455-5p Axis-mediated High Expression of MTHFD2 Correlates with Tumor Immune Infiltration and Endometrial Carcinoma Progression.0
364933922023MTHFD2 suppresses glioblastoma progression via the inhibition of ERK1/2 phosphorylation.2
366017412023Upregulation of MTHFD2 is associated with PD‑L1 activation in bladder cancer via the PI3K/AKT pathway.4
374848072023SNHG3/hsa-miR-455-5p Axis-mediated High Expression of MTHFD2 Correlates with Tumor Immune Infiltration and Endometrial Carcinoma Progression.0
351355962022Up-regulation of MTHFD2 is associated with clinicopathological characteristics and poor survival in ovarian cancer, possibly by regulating MOB1A signaling.7
352287492022Pharmacological targeting of MTHFD2 suppresses acute myeloid leukemia by inducing thymidine depletion and replication stress.20
353496972022Deacetylation of MTHFD2 by SIRT4 senses stress signal to inhibit cancer cell growth by remodeling folate metabolism.8

Citation

Dessen P

MTHFD2 (methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase)

Atlas Genet Cytogenet Oncol Haematol. 2015-02-01

Online version: http://atlasgeneticsoncology.org/gene/55046/gene-fusions/js/template.js