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Tbio
GAMT
Guanidinoacetate N-methyltransferase

Protein Summary
Description
Converts guanidinoacetate to creatine, using S-adenosylmethionine as the methyl donor (PubMed:26003046, PubMed:24415674, PubMed:26319512). Important in nervous system development (PubMed:24415674). The protein encoded by this gene is a methyltransferase that converts guanidoacetate to creatine, using S-adenosylmethionine as the methyl donor. Defects in this gene have been implicated in neurologic syndromes and muscular hypotonia, probably due to creatine deficiency and accumulation of guanidinoacetate in the brain of affected individuals. Two transcript variants encoding different isoforms have been described for this gene. Pseudogenes of this gene are found on chromosomes 2 and 13. [provided by RefSeq, Feb 2012]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000252288
  • ENSP00000252288
  • ENSG00000130005
  • ENST00000447102
  • ENSP00000403536

Symbol
  • PIG2
  • CCDS2
  • TP53I2
  • HEL-S-20
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
disease perturbation
0.95
gene perturbation
0.85
virus perturbation
0.72
small molecule perturbation
0.68
transcription factor perturbation
0.61


Related Tools
GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 149.13   (req: < 5)
Gene RIFs: 14   (req: <= 3)
Antibodies: 213   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 149.13   (req: >= 5)
Gene RIFs: 14   (req: > 3)
Antibodies: 213   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 11
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
Orthologs (10)
1 – 5 of 10
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
guanidinoacetate N-methyltransferase
VGNC:2399
749982
Macaque
guanidinoacetate N-methyltransferase
721263
Mouse
MGI:1098221
14431
Rat
RGD:2659
25257
Dog
guanidinoacetate N-methyltransferase
VGNC:41104
485085
Species
Name
OMA
EggNOG
Inparanoid
Chimp
guanidinoacetate N-methyltransferase
Macaque
guanidinoacetate N-methyltransferase
Mouse
Rat
Dog
guanidinoacetate N-methyltransferase
Protein Structure (1 Structure, 1 AlphaFold Model)
RepresentationColor Scheme

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AF-Q14353-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 1 of 1
PDB Structure Id
Ligand
Method
Resolution (Å)
Residues
Fraction of Total Protein
Pub Year
Title
PDB Structure Id
Fraction of Total Protein
Resolution
Pub Year
Pathways (17)
Creatine metabolism (R-HSA-71288)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 5 of 7
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Creatine metabolism
Reactome
Gene expression (Transcription)
Reactome
Generic Transcription Pathway
Reactome
Metabolism
Reactome
Metabolism of amino acids and derivatives
Name
Explore in Pharos
Explore in Source
Creatine metabolism
Gene expression (Transcription)
Generic Transcription Pathway
Metabolism
Metabolism of amino acids and derivatives
Protein-Protein Interactions (154)
1 – 10 of 154
FARS2
Tchem
Family: Enzyme
Novelty: 0.00771459
p_int: 0.997157187
p_ni: 0.002842813
Score: 0.326
Data Source: BioPlex,STRINGDB
TAS2R41
Tdark
Family: GPCR
Novelty: 0.56248837
p_int: 0.764117399
p_ni: 0.235679909
p_wrong: 0.000202693
Score: 0.214
Data Source: BioPlex,STRINGDB
FSD1
Tbio
Novelty: 0.03452477
p_int: 0.764117399
p_ni: 0.235679909
p_wrong: 0.000202693
Score: 0.158
Data Source: BioPlex,STRINGDB
GATM
Tbio
Family: Enzyme
Novelty: 0.00340356
Score: 0.988
Data Source: STRINGDB
CKMT2
Tbio
Family: Kinase
Novelty: 0.00904745
Score: 0.96
Data Source: STRINGDB
CKB
Tbio
Family: Kinase
Novelty: 0.00347535
Score: 0.956
Data Source: STRINGDB
CKMT1A
Tbio
Family: Kinase
Novelty: 0.00844533
Score: 0.951
Data Source: STRINGDB
CKM
Tbio
Family: Kinase
Novelty: 0.00239628
Score: 0.945
Data Source: STRINGDB
BRIX1
Tbio
Novelty: 0.16561444
Score: 0.849
Data Source: STRINGDB
POLR1B
Tbio
Family: Enzyme
Novelty: 0.06955307
Score: 0.842
Data Source: STRINGDB
Publication Statistics
PubMed Score  149.13

PubMed score by year
PubTator Score  110.17

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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