GAMT (guanidinoacetate N-methyltransferase)

2014-11-01  

Identity

HGNC
GAMT
LOCATION
19p13.3
LOCUSID
2593
ALIAS
CCDS2,HEL-S-20,PIG2,TP53I2

Other Information

Locus ID:

NCBI: 2593
MIM: 601240
HGNC: 4136
Ensembl: ENSG00000130005

Variants:

dbSNP: 2593
ClinVar: 2593
TCGA: ENSG00000130005
COSMIC: GAMT

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130005ENST00000252288Q14353
ENSG00000130005ENST00000252288V9HWB2
ENSG00000130005ENST00000447102Q14353
ENSG00000130005ENST00000591788K7EM34
ENSG00000130005ENST00000640762A0A1W2PR36

Expression (GTEx)

0
50
100
150
200
250
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
Arginine and proline metabolismKEGGko00330
Glycine, serine and threonine metabolismKEGGhsa00260
Arginine and proline metabolismKEGGhsa00330
Metabolic pathwaysKEGGhsa01100
Creatine pathwayKEGGhsa_M00047
Creatine pathwayKEGGM00047
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Creatine metabolismREACTOMER-HSA-71288
Metabolism of polyaminesREACTOMER-HSA-351202

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
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

References

Pubmed IDYearTitleCitations
384526092024ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes.0
384526092024ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes.0
349909042022Elastic net-based identification of GAMT as potential diagnostic marker for early-stage gastric cancer.4
355887942022Identification of novel variations in SLC6A8 and GAMT genes causing cerebral creatine deficiency syndrome.1
349909042022Elastic net-based identification of GAMT as potential diagnostic marker for early-stage gastric cancer.4
355887942022Identification of novel variations in SLC6A8 and GAMT genes causing cerebral creatine deficiency syndrome.1
315597272019A novel mutation in two cousins with guanidinoacetate methyltransferase (GAMT) deficiency presented with autism.5
315597272019A novel mutation in two cousins with guanidinoacetate methyltransferase (GAMT) deficiency presented with autism.5
294494602018PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease.9
294494602018PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease.9
280550222017Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics.10
280550222017Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics.10
263195122016A pilot study to estimate incidence of guanidinoacetate methyltransferase deficiency in newborns by direct sequencing of the GAMT gene.10
263195122016A pilot study to estimate incidence of guanidinoacetate methyltransferase deficiency in newborns by direct sequencing of the GAMT gene.10
260030462015Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene.8

Citation

Dessen P

GAMT (guanidinoacetate N-methyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63694/gamt-(guanidinoacetate-n-methyltransferase)