GNMT (glycine N-methyltransferase)

2007-02-01  

Identity

HGNC
GNMT
LOCATION
6p21.1
LOCUSID
27232
ALIAS
HEL-S-182mP
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 27232
MIM: 606628
HGNC: 4415
Ensembl: ENSG00000124713

Variants:

dbSNP: 27232
ClinVar: 27232
TCGA: ENSG00000124713
COSMIC: GNMT

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000124713ENST00000372808Q14749
ENSG00000124713ENST00000372808V9HW60

Expression (GTEx)

0
50
100
150
200
250
300
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
Glycine, serine and threonine metabolismKEGGko00260
Glycine, serine and threonine metabolismKEGGhsa00260
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Glyoxylate metabolism and glycine degradationREACTOMER-HSA-389661
Selenoamino acid metabolismREACTOMER-HSA-2408522
Metabolism of ingested SeMet, Sec, MeSec into H2SeREACTOMER-HSA-2408508

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 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA446155Precursor Cell Lymphoblastic Leukemia-LymphomaDiseaseClinicalAnnotationassociatedPD27452984
PA450379mercaptopurineChemicalClinicalAnnotationassociatedPD27452984
PA450423l-methionineChemicalLiterature, MultilinkAnnotationassociated24651765

References

Pubmed IDYearTitleCitations
190354622009Characterization of a glycine N-methyltransferase gene knockout mouse model for hepatocellular carcinoma: Implications of the gender disparity in liver cancer susceptibility.32
191611602009An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1).30
125663092003Genotypic and phenotypic characterization of a putative tumor susceptibility gene, GNMT, in liver cancer.29
221602182012Functional characterization of glycine N-methyltransferase and its interactive protein DEPDC6/DEPTOR in hepatocellular carcinoma.28
215723962011The important role of glycine N-methyltransferase in the carcinogenesis and progression of prostate cancer.23
118102992002Mutations in human glycine N-methyltransferase give insights into its role in methionine metabolism.22
221838942012Glycine N-methyltransferase deficiency affects Niemann-Pick type C2 protein stability and regulates hepatic cholesterol homeostasis.22
173322832007Haplotypes, loss of heterozygosity, and expression levels of glycine N-methyltransferase in prostate cancer.21
190486312009Oral facial clefts and gene polymorphisms in metabolism of folate/one-carbon and vitamin A: a pathway-wide association study.20
206348912010Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.18

Citation

Dessen P

GNMT (glycine N-methyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45999/gnmt