MTRR (5-methyltetrahydrofolate-homocysteine methyltransferase reductase)

2007-02-01 Affiliation

Identity

HGNC

MTRR

LOCATION

5p15.31

LOCUSID

4552

ALIAS

MSR,cblE

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000124275	ENST00000264668	Q9UBK8
ENSG00000124275	ENST00000440940	Q9UBK8
ENSG00000124275	ENST00000502550	D6RAZ2
ENSG00000124275	ENST00000503550	D6RAY3
ENSG00000124275	ENST00000506877	D6RIS8
ENSG00000124275	ENST00000508047	H0Y963
ENSG00000124275	ENST00000510279	A0A3P9MRF3
ENSG00000124275	ENST00000510525	H0Y8S9
ENSG00000124275	ENST00000511461	H0Y9Q0
ENSG00000124275	ENST00000512217	D6RGC7
ENSG00000124275	ENST00000513439	D6RF21
ENSG00000124275	ENST00000514220	H0Y9D5
ENSG00000124275	ENST00000514369	A0A3P9MRF3

Expression (GTEx)

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

Pathway	Source	External ID
Disease	REACTOME	R-HSA-1643685
Diseases of metabolism	REACTOME	R-HSA-5668914
Defects in vitamin and cofactor metabolism	REACTOME	R-HSA-3296482
Defects in cobalamin (B12) metabolism	REACTOME	R-HSA-3296469
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE	REACTOME	R-HSA-3359467
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG	REACTOME	R-HSA-3359469
Metabolism	REACTOME	R-HSA-1430728
Metabolism of vitamins and cofactors	REACTOME	R-HSA-196854
Metabolism of water-soluble vitamins and cofactors	REACTOME	R-HSA-196849
Cobalamin (Cbl, vitamin B12) transport and metabolism	REACTOME	R-HSA-196741
Metabolism of amino acids and derivatives	REACTOME	R-HSA-71291
Sulfur amino acid metabolism	REACTOME	R-HSA-1614635
Biological oxidations	REACTOME	R-HSA-211859
Phase II conjugation	REACTOME	R-HSA-156580
Methylation	REACTOME	R-HSA-156581

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PD	PMIDs
PA10505	vitamin b-complex, plain	Chemical	ClinicalAnnotation	associated	PD	22926161
PA446155	Precursor Cell Lymphoblastic Leukemia-Lymphoma	Disease	ClinicalAnnotation	associated	PD	15797993, 16013960, 18368069, 29743634
PA447004	Migraine with Aura	Disease	ClinicalAnnotation	associated	PD	22926161
PA449692	folic acid	Chemical	ClinicalAnnotation	associated	PD	22926161
PA450428	methotrexate	Chemical	ClinicalAnnotation	associated	PD	15797993, 16013960, 18368069, 29743634

References

Pubmed ID	Year	Title	Citations
38634541	2024	MTHFR and MTRR gene polymorphisms in patients with chronic hepatitis B virus infections in Zigong, Sichuan Province.	0
38716581	2024	Association of MTHFR (C677T, A1298C) and MTRR A66G polymorphisms with fatty acids profile and risk of neural tube defects.	0
38634541	2024	MTHFR and MTRR gene polymorphisms in patients with chronic hepatitis B virus infections in Zigong, Sichuan Province.	0
38716581	2024	Association of MTHFR (C677T, A1298C) and MTRR A66G polymorphisms with fatty acids profile and risk of neural tube defects.	0
37116134	2023	Genetic Polymorphisms of Gene Methionine Synthase Reductase (MTRR) and Risk of Urinary Bladder Cancer.	1
37154151	2023	Association analysis of MTHFR (rs1801133 and rs1801131) and MTRR (rs1801394) gene polymorphisms towards the development of hypertension in the Bai population from Yunnan, China.	3
37249073	2023	Association of MTR A2756G and MTRR A66G Polymorphisms With Male Infertility: An Updated Meta-Analysis.	0
37531512	2023	Association of MTR and MTRR genes and oral health-related quality of life in children with dental caries.	0
37116134	2023	Genetic Polymorphisms of Gene Methionine Synthase Reductase (MTRR) and Risk of Urinary Bladder Cancer.	1
37154151	2023	Association analysis of MTHFR (rs1801133 and rs1801131) and MTRR (rs1801394) gene polymorphisms towards the development of hypertension in the Bai population from Yunnan, China.	3
37249073	2023	Association of MTR A2756G and MTRR A66G Polymorphisms With Male Infertility: An Updated Meta-Analysis.	0
37531512	2023	Association of MTR and MTRR genes and oral health-related quality of life in children with dental caries.	0
35332781	2022	Folate metabolism abnormalities in infertile patients with endometriosis.	1
35434830	2022	Analysis of the frequency distribution of five single-nucleotide polymorphisms of the MTRRgene in a Chinese pediatric population with acute lymphoblastic leukemia.	2
35489763	2022	Contribution 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/mtrr-(5-methyltetrahydrofolate-homocysteine-methyltransferase-reductase)