MTRR (5-methyltetrahydrofolate-homocysteine methyltransferase reductase)

2007-02-01  

Identity

HGNC
MTRR
LOCATION
5p15.31
LOCUSID
4552
ALIAS
MSR,cblE
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 4552
MIM: 602568
HGNC: 7473
Ensembl: ENSG00000124275

Variants:

dbSNP: 4552
ClinVar: 4552
TCGA: ENSG00000124275
COSMIC: MTRR

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000124275ENST00000264668Q9UBK8
ENSG00000124275ENST00000440940Q9UBK8
ENSG00000124275ENST00000502550D6RAZ2
ENSG00000124275ENST00000503550D6RAY3
ENSG00000124275ENST00000506877D6RIS8
ENSG00000124275ENST00000508047H0Y963
ENSG00000124275ENST00000510279A0A3P9MRF3
ENSG00000124275ENST00000510525H0Y8S9
ENSG00000124275ENST00000511461H0Y9Q0
ENSG00000124275ENST00000512217D6RGC7
ENSG00000124275ENST00000513439D6RF21
ENSG00000124275ENST00000514220H0Y9D5
ENSG00000124275ENST00000514369A0A3P9MRF3

Expression (GTEx)

0
5
10
15
20
25
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
DiseaseREACTOMER-HSA-1643685
Diseases of metabolismREACTOMER-HSA-5668914
Defects in vitamin and cofactor metabolismREACTOMER-HSA-3296482
Defects in cobalamin (B12) metabolismREACTOMER-HSA-3296469
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblEREACTOMER-HSA-3359467
Defective MTR causes methylmalonic aciduria and homocystinuria type cblGREACTOMER-HSA-3359469
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Cobalamin (Cbl, vitamin B12) transport and metabolismREACTOMER-HSA-196741
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Sulfur amino acid metabolismREACTOMER-HSA-1614635
Biological oxidationsREACTOMER-HSA-211859
Phase II conjugationREACTOMER-HSA-156580
MethylationREACTOMER-HSA-156581

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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA10505vitamin b-complex, plainChemicalClinicalAnnotationassociatedPD22926161
PA446155Precursor Cell Lymphoblastic Leukemia-LymphomaDiseaseClinicalAnnotationassociatedPD15797993, 16013960, 18368069, 29743634
PA447004Migraine with AuraDiseaseClinicalAnnotationassociatedPD22926161
PA449692folic acidChemicalClinicalAnnotationassociatedPD22926161
PA450428methotrexateChemicalClinicalAnnotationassociatedPD15797993, 16013960, 18368069, 29743634

References

Pubmed IDYearTitleCitations
1079155920005,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review.184
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
149776392004Polymorphisms in genes involved in folate metabolism and colorectal neoplasia: a HuGE review.81
194933492009118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects.62
200992812010Blood leukocyte DNA hypomethylation and gastric cancer risk in a high-risk Polish population.57
114727462001The methionine synthase reductase (MTRR) A66G polymorphism is a novel genetic determinant of plasma homocysteine concentrations.54
126423432003Genetic and nutritional factors contributing to hyperhomocysteinemia in young adults.54
174363112007Large-scale population-based metabolic phenotyping of thirteen genetic polymorphisms related to one-carbon metabolism.51
210416082011Family-based analysis of genetic variation underlying psychosis-inducing effects of cannabis: sibling analysis and proband follow-up.48
224793802012Genetic and non-genetic influences during pregnancy on infant global and site specific DNA methylation: role for folate gene variants and vitamin B12.43

Citation

Dessen P

MTRR (5-methyltetrahydrofolate-homocysteine methyltransferase reductase)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43689/mtrr