AMT (aminomethyltransferase)

2014-11-01 Affiliation

Identity

HGNC

AMT

LOCATION

3p21.31

LOCUSID

275

ALIAS

GCE,GCST,GCVT,NKH

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: 275
MIM: 238310
HGNC: 473
Ensembl: ENSG00000145020

Variants:

dbSNP: 275
ClinVar: 275
TCGA: ENSG00000145020
COSMIC: AMT

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000145020	ENST00000273588	P48728
ENSG00000145020	ENST00000273588	A0A024R2U7
ENSG00000145020	ENST00000395338	P48728
ENSG00000145020	ENST00000399379	F8WF62
ENSG00000145020	ENST00000427987	H0Y695
ENSG00000145020	ENST00000430521	C9JXJ4
ENSG00000145020	ENST00000458307	P48728
ENSG00000145020	ENST00000462048	A0A1B0GVD0
ENSG00000145020	ENST00000538581	B3KTU4
ENSG00000145020	ENST00000635808	A0A1B0GTA8
ENSG00000145020	ENST00000636023	A0A1B0GU55
ENSG00000145020	ENST00000636070	C9JXJ4
ENSG00000145020	ENST00000636188	A0A1B0GV07
ENSG00000145020	ENST00000636199	A0A1B0GWC4
ENSG00000145020	ENST00000636522	P48728
ENSG00000145020	ENST00000636597	A0A1B0GUU7
ENSG00000145020	ENST00000636865	A0A1B0GVP5
ENSG00000145020	ENST00000637059	A0A1B0GUK9
ENSG00000145020	ENST00000637455	A0A1B0GTB6
ENSG00000145020	ENST00000637682	A0A1B0GTV8
ENSG00000145020	ENST00000637821	C9JXJ4
ENSG00000145020	ENST00000638063	A0A1B0GTM2

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
Glycine, serine and threonine metabolism	KEGG	ko00260
Glyoxylate and dicarboxylate metabolism	KEGG	ko00630
One carbon pool by folate	KEGG	ko00670
Glycine, serine and threonine metabolism	KEGG	hsa00260
Glyoxylate and dicarboxylate metabolism	KEGG	hsa00630
One carbon pool by folate	KEGG	hsa00670
Metabolic pathways	KEGG	hsa01100
Carbon metabolism	KEGG	hsa01200
Carbon metabolism	KEGG	ko01200
Metabolism	REACTOME	R-HSA-1430728
Metabolism of amino acids and derivatives	REACTOME	R-HSA-71291
Glyoxylate metabolism and glycine degradation	REACTOME	R-HSA-389661
Glycine degradation	REACTOME	R-HSA-6783984

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
27362913	2017	The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.	32
27362913	2017	The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.	32
25231368	2014	Mutation analysis of glycine decarboxylase, aminomethyltransferase and glycine cleavage system protein-H genes in 13 unrelated families with glycine encephalopathy.	13
25231368	2014	Mutation analysis of glycine decarboxylase, aminomethyltransferase and glycine cleavage system protein-H genes in 13 unrelated families with glycine encephalopathy.	13
22171071	2012	Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans.	56
22171071	2012	Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans.	56
19367581	2010	Identification of neuroglycan C and interacting partners as potential susceptibility genes for schizophrenia in a Southern Chinese population.	15
20307617	2010	Association analysis of 3p21 with Crohn's disease in a New Zealand population.	4
20628086	2010	Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.	15
20634891	2010	Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.	28
20877624	2010	Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.	20
19367581	2010	Identification of neuroglycan C and interacting partners as potential susceptibility genes for schizophrenia in a Southern Chinese population.	15
20307617	2010	Association analysis of 3p21 with Crohn's disease in a New Zealand population.	4
20628086	2010	Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.	15
20634891	2010	Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.	28

Citation

Dessen P

AMT (aminomethyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60279