GATM (glycine amidinotransferase)

2014-11-01 Affiliation

Identity

HGNC

GATM

LOCATION

15q21.1

LOCUSID

2628

ALIAS

AGAT,AT,CCDS3,FRTS1

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: 2628
MIM: 602360
HGNC: 4175
Ensembl: ENSG00000171766

Variants:

dbSNP: 2628
ClinVar: 2628
TCGA: ENSG00000171766
COSMIC: GATM

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000171766	ENST00000396659	P50440
ENSG00000171766	ENST00000396659	A0A140VK19
ENSG00000171766	ENST00000558118	H0YKW9
ENSG00000171766	ENST00000558163	H0YMX4
ENSG00000171766	ENST00000558336	P50440
ENSG00000171766	ENST00000558537	H0YLC6
ENSG00000171766	ENST00000559885	H0YL75
ENSG00000171766	ENST00000561148	H0YN43

Expression (GTEx)

100

200

300

400

500

600

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
Arginine and proline metabolism	KEGG	ko00330
Glycine, serine and threonine metabolism	KEGG	hsa00260
Arginine and proline metabolism	KEGG	hsa00330
Metabolic pathways	KEGG	hsa01100
Creatine pathway	KEGG	hsa_M00047
Creatine pathway	KEGG	M00047
Metabolism	REACTOME	R-HSA-1430728
Metabolism of amino acids and derivatives	REACTOME	R-HSA-71291
Creatine metabolism	REACTOME	R-HSA-71288
Metabolism of polyamines	REACTOME	R-HSA-351202

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD
PA133950441	hmg coa reductase inhibitors	Chemical	ClinicalAnnotation	associated	PK	PD
PA445019	Myocardial Infarction	Disease	ClinicalAnnotation	associated	PK	PD
PA451363	simvastatin	Chemical	ClinicalAnnotation	associated	PK	PD

References

Pubmed ID	Year	Title	Citations
38452609	2024	ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes.	0
38452609	2024	ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes.	0
36148635	2023	A novel variant in GATM causes idiopathic renal Fanconi syndrome and predicts progression to end-stage kidney disease.	2
37286521	2023	Association of Familial Fanconi Syndrome with a Novel GATM Variant.	0
38104212	2023	Evidence of an intracellular creatine-sensing mechanism that modulates creatine biosynthesis via AGAT expression in human HAP1 cells.	0
36148635	2023	A novel variant in GATM causes idiopathic renal Fanconi syndrome and predicts progression to end-stage kidney disease.	2
37286521	2023	Association of Familial Fanconi Syndrome with a Novel GATM Variant.	0
38104212	2023	Evidence of an intracellular creatine-sensing mechanism that modulates creatine biosynthesis via AGAT expression in human HAP1 cells.	0
33051696	2021	The association of GATM polymorphism with statin-induced myopathy: a systematic review and meta-analysis.	3
33150478	2021	Correlation between single-nucleotide polymorphisms and statin-induced myopathy: a mixed-effects model meta-analysis.	2
34071541	2021	Polymorphism in the GATM Locus Associated with Dialysis-Independent Chronic Kidney Disease but Not Dialysis-Dependent Kidney Failure.	1
33051696	2021	The association of GATM polymorphism with statin-induced myopathy: a systematic review and meta-analysis.	3
33150478	2021	Correlation between single-nucleotide polymorphisms and statin-induced myopathy: a mixed-effects model meta-analysis.	2
34071541	2021	Polymorphism in the GATM Locus Associated with Dialysis-Independent Chronic Kidney Disease but Not Dialysis-Dependent Kidney Failure.	1
29654216	2018	Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.	28

Citation

Dessen P

GATM (glycine amidinotransferase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/55531