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
386345412024MTHFR and MTRR gene polymorphisms in patients with chronic hepatitis B virus infections in Zigong, Sichuan Province.0
387165812024Association of MTHFR (C677T, A1298C) and MTRR A66G polymorphisms with fatty acids profile and risk of neural tube defects.0
386345412024MTHFR and MTRR gene polymorphisms in patients with chronic hepatitis B virus infections in Zigong, Sichuan Province.0
387165812024Association of MTHFR (C677T, A1298C) and MTRR A66G polymorphisms with fatty acids profile and risk of neural tube defects.0
371161342023Genetic Polymorphisms of Gene Methionine Synthase Reductase (MTRR) and Risk of Urinary Bladder Cancer.1
371541512023Association analysis of MTHFR (rs1801133 and rs1801131) and MTRR (rs1801394) gene polymorphisms towards the development of hypertension in the Bai population from Yunnan, China.3
372490732023Association of MTR A2756G and MTRR A66G Polymorphisms With Male Infertility: An Updated Meta-Analysis.0
375315122023Association of MTR and MTRR genes and oral health-related quality of life in children with dental caries.0
371161342023Genetic Polymorphisms of Gene Methionine Synthase Reductase (MTRR) and Risk of Urinary Bladder Cancer.1
371541512023Association analysis of MTHFR (rs1801133 and rs1801131) and MTRR (rs1801394) gene polymorphisms towards the development of hypertension in the Bai population from Yunnan, China.3
372490732023Association of MTR A2756G and MTRR A66G Polymorphisms With Male Infertility: An Updated Meta-Analysis.0
375315122023Association of MTR and MTRR genes and oral health-related quality of life in children with dental caries.0
353327812022Folate metabolism abnormalities in infertile patients with endometriosis.1
354348302022Analysis of the frequency distribution of five single-nucleotide polymorphisms of the MTRRgene in a Chinese pediatric population with acute lymphoblastic leukemia.2
354897632022Contribution of 5-Methyltetrahydrofolate-Homocysteine Methyltransferase Reductase Genotypes to Colorectal Cancer in Taiwan.3

Citation

Dessen P

MTRR (5-methyltetrahydrofolate-homocysteine methyltransferase reductase)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

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