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GAMT (guanidinoacetate N-methyltransferase)

Identity

Alias_symbol (synonym)PIG2
TP53I2
Other aliasCCDS2
HEL-S-20
HGNC (Hugo) GAMT
LocusID (NCBI) 2593
Atlas_Id 63694
Location 19p13.3  [Link to chromosome band 19p13]
Location_base_pair Starts at 1397026 and ends at 1401570 bp from pter ( according to hg38-Dec_2013)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)GAMT   4136
Cards
Entrez_Gene (NCBI)GAMT  2593  guanidinoacetate N-methyltransferase
AliasesCCDS2; HEL-S-20; PIG2; TP53I2
GeneCards (Weizmann)GAMT
Ensembl hg19 (Hinxton)ENSG00000130005 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000130005 [Gene_View]  chr19:1397026-1401570 [Contig_View]  GAMT [Vega]
ICGC DataPortalENSG00000130005
TCGA cBioPortalGAMT
AceView (NCBI)GAMT
Genatlas (Paris)GAMT
WikiGenes2593
SOURCE (Princeton)GAMT
Genetics Home Reference (NIH)GAMT
Genomic and cartography
GoldenPath hg38 (UCSC)GAMT  -     chr19:1397026-1401570 -  19p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GAMT  -     19p13.3   [Description]    (hg19-Feb_2009)
EnsemblGAMT - 19p13.3 [CytoView hg19]  GAMT - 19p13.3 [CytoView hg38]
Mapping of homologs : NCBIGAMT [Mapview hg19]  GAMT [Mapview hg38]
OMIM601240   612736   
Gene and transcription
Genbank (Entrez)AF086508 AK289465 AK297487 BC016760 BC017936
RefSeq transcript (Entrez)NM_000156 NM_138924
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GAMT
Cluster EST : UnigeneHs.81131 [ NCBI ]
CGAP (NCI)Hs.81131
Alternative Splicing GalleryENSG00000130005
Gene ExpressionGAMT [ NCBI-GEO ]   GAMT [ EBI - ARRAY_EXPRESS ]   GAMT [ SEEK ]   GAMT [ MEM ]
Gene Expression Viewer (FireBrowse)GAMT [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2593
GTEX Portal (Tissue expression)GAMT
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14353   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ14353  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ14353
Splice isoforms : SwissVarQ14353
PhosPhoSitePlusQ14353
Domaine pattern : Prosite (Expaxy)SAM_RMT2 (PS51559)   
Domains : Interpro (EBI)GuanidinoAc_N-MeTrfase    RMT2_dom    SAM-dependent_MTases   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)GAMT
DMDM Disease mutations2593
Blocks (Seattle)GAMT
PDB (SRS)3ORH   
PDB (PDBSum)3ORH   
PDB (IMB)3ORH   
PDB (RSDB)3ORH   
Structural Biology KnowledgeBase3ORH   
SCOP (Structural Classification of Proteins)3ORH   
CATH (Classification of proteins structures)3ORH   
SuperfamilyQ14353
Human Protein AtlasENSG00000130005
Peptide AtlasQ14353
HPRD03142
IPIIPI00030182   IPI00909640   IPI00334683   
Protein Interaction databases
DIP (DOE-UCLA)Q14353
IntAct (EBI)Q14353
FunCoupENSG00000130005
BioGRIDGAMT
STRING (EMBL)GAMT
ZODIACGAMT
Ontologies - Pathways
QuickGOQ14353
Ontology : AmiGOnucleus  cytoplasm  cytosol  creatine metabolic process  creatine biosynthetic process  creatine biosynthetic process  muscle contraction  spermatogenesis  methyltransferase activity  animal organ morphogenesis  guanidinoacetate N-methyltransferase activity  methylation  regulation of multicellular organism growth  S-adenosylhomocysteine metabolic process  S-adenosylmethionine metabolic process  extracellular exosome  
Ontology : EGO-EBInucleus  cytoplasm  cytosol  creatine metabolic process  creatine biosynthetic process  creatine biosynthetic process  muscle contraction  spermatogenesis  methyltransferase activity  animal organ morphogenesis  guanidinoacetate N-methyltransferase activity  methylation  regulation of multicellular organism growth  S-adenosylhomocysteine metabolic process  S-adenosylmethionine metabolic process  extracellular exosome  
Pathways : KEGGGlycine, serine and threonine metabolism    Arginine and proline metabolism   
NDEx NetworkGAMT
Atlas of Cancer Signalling NetworkGAMT
Wikipedia pathwaysGAMT
Orthology - Evolution
OrthoDB2593
GeneTree (enSembl)ENSG00000130005
Phylogenetic Trees/Animal Genes : TreeFamGAMT
HOVERGENQ14353
HOGENOMQ14353
Homologs : HomoloGeneGAMT
Homology/Alignments : Family Browser (UCSC)GAMT
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGAMT [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GAMT
dbVarGAMT
ClinVarGAMT
1000_GenomesGAMT 
Exome Variant ServerGAMT
ExAC (Exome Aggregation Consortium)GAMT (select the gene name)
Genetic variants : HAPMAP2593
Genomic Variants (DGV)GAMT [DGVbeta]
DECIPHERGAMT [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGAMT 
Mutations
ICGC Data PortalGAMT 
TCGA Data PortalGAMT 
Broad Tumor PortalGAMT
OASIS PortalGAMT [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGAMT  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGAMT
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
BioMutasearch GAMT
DgiDB (Drug Gene Interaction Database)GAMT
DoCM (Curated mutations)GAMT (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GAMT (select a term)
intoGenGAMT
Cancer3DGAMT(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601240    612736   
Orphanet1726   
MedgenGAMT
Genetic Testing Registry GAMT
NextProtQ14353 [Medical]
TSGene2593
GENETestsGAMT
Target ValidationGAMT
Huge Navigator GAMT [HugePedia]
snp3D : Map Gene to Disease2593
BioCentury BCIQGAMT
ClinGenGAMT
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2593
Chemical/Pharm GKB GenePA28549
Clinical trialGAMT
Miscellaneous
canSAR (ICR)GAMT (select the gene name)
Probes
Litterature
PubMed30 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGAMT
EVEXGAMT
GoPubMedGAMT
iHOPGAMT
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 15:50:17 CEST 2017

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