MTR (5-methyltetrahydrofolate-homocysteine methyltransferase)

2007-02-01 Affiliation

Identity

HGNC

MTR

LOCATION

1q43

LOCUSID

4548

ALIAS

HMAG,MS,cblG

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: 4548
MIM: 156570
HGNC: 7468
Ensembl: ENSG00000116984

Variants:

dbSNP: 4548
ClinVar: 4548
TCGA: ENSG00000116984
COSMIC: MTR

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000116984	ENST00000366576	B1ANE3
ENSG00000116984	ENST00000366577	Q99707
ENSG00000116984	ENST00000535889	Q99707
ENSG00000116984	ENST00000650888	A0A494C064
ENSG00000116984	ENST00000651455	A0A494C1A2

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
Selenocompound metabolism	KEGG	ko00450
One carbon pool by folate	KEGG	ko00670
Selenocompound metabolism	KEGG	hsa00450
One carbon pool by folate	KEGG	hsa00670
Cysteine and methionine metabolism	KEGG	ko00270
Cysteine and methionine metabolism	KEGG	hsa00270
Metabolic pathways	KEGG	hsa01100
Biosynthesis of amino acids	KEGG	hsa01230
Biosynthesis of amino acids	KEGG	ko01230
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	PK	PD	PMIDs
PA443297	Agranulocytosis	Disease	ClinicalAnnotation	associated		PD	24712521
PA443553	Brain Diseases	Disease	VariantAnnotation	associated		PD	17855192
PA445062	Neoplasms	Disease	ClinicalAnnotation	associated		PD	19159907, 21605004, 29662106
PA447288	Essential hypertension	Disease	ClinicalAnnotation	associated		PD	15148588
PA448561	benazepril	Chemical	ClinicalAnnotation	associated		PD	15148588
PA448803	carboplatin	Chemical	ClinicalAnnotation	associated		PD	19159907, 21605004, 29662106
PA449014	cisplatin	Chemical	ClinicalAnnotation	associated		PD	19159907, 21605004, 29662106
PA450428	methotrexate	Chemical	ClinicalAnnotation, VariantAnnotation	ambiguous	PK	PD	15797993, 16013960, 17611986, 17855192, 18322994, 19159907, 22838948, 24712521, 27217051, 27676277

References

Pubmed ID	Year	Title	Citations
10791559	2000	5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review.	184
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
14977639	2004	Polymorphisms in genes involved in folate metabolism and colorectal neoplasia: a HuGE review.	81
19493349	2009	118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects.	62
17450230	2007	Genetic polymorphisms influencing arsenic metabolism: evidence from Argentina.	57
12642343	2003	Genetic and nutritional factors contributing to hyperhomocysteinemia in young adults.	54
17436311	2007	Large-scale population-based metabolic phenotyping of thirteen genetic polymorphisms related to one-carbon metabolism.	51
21041608	2011	Family-based analysis of genetic variation underlying psychosis-inducing effects of cannabis: sibling analysis and proband follow-up.	48
17449906	2007	Genetic polymorphisms in one-carbon metabolism: associations with CpG island methylator phenotype (CIMP) in colon cancer and the modifying effects of diet.	46
16407418	2006	Polymorphisms in DNA repair genes modulate survival in cisplatin/gemcitabine-treated non-small-cell lung cancer patients.	44

Citation

Dessen P

MTR (5-methyltetrahydrofolate-homocysteine methyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43820/mtr