AutismKB

Annotation Detail for GAMT


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Basic Information Top
Gene Symbol:GAMT ( PIG2,TP53I2 )
Gene Full Name: guanidinoacetate N-methyltransferase
Band: 19p13.3
Quick LinksEntrez ID:2593; OMIM: 601240; Uniprot ID:GAMT_HUMAN; ENSEMBL ID: ENSG00000130005
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005829EXP-cytosol8651275
GO ID Evidence Qualifier GO_term References
GO:0008168EXP-methyltransferase activity8651275
GO:0016740IEA-transferase activity-
GO:0030731IMP-guanidinoacetate N-methyltransferase activity8651275
GO ID Evidence Qualifier GO_term References
GO:0006600EXP-creatine metabolic process10893433
GO:0006601IDA-creatine biosynthetic process8651275
GO:0006936TAS-muscle contraction8547310
GO:0032259EXP-methylation8651275
GO:0032259TAS-methylation9325156
GO:0034641TAS-cellular nitrogen compound metabolic process-
Protein-Protein Interaction Top
Genomic Variants Top
Variant ID Location Publication Method/platform Gain Lose Total Frequency Sample Size Genes
Variation_4066 chr19:902641-1495933 17122850 BAC Array CGH 4- 270 control samples (HapMap) HMHA1, PLK5P, REEP6, MUM1, GPX4, PCSK4, C19orf25, POLR2E, GAMT, C19orf23, GRIN3B, ABCA7, APC2, CIRBP, MIDN, EFNA2, C19orf6, NDUFS7, ATP5D, CNN2, ADAMTSL5, ARID3A, WDR18, SBNO2, C19orf26, DAZAP1, RPS15, STK11, C19orf24
Variation_7191 chr19:1271267-1950204 17666407 Agilent 185k CGH Arrays/Agilent Custom CGH Arrays 13 10 23- 50 control samples (French) PLK5P, C19orf25, TCF3, C19orf34, UQCR11, DAZAP1, REEP6, MBD3, ADAMTSL5, BTBD2, MUM1, MIR1909, CSNK1G2, SCAMP4, ADAT3, NDUFS7, LOC100288123, ONECUT3, REXO1, PCSK4, GAMT, FAM108A1, APC2, KLF16, ATP8B3, RPS15, MEX3D
Variation_5066 chr19:1331125-1495933 17160897 BAC Array CGH 0 18 18- 95 control samples PLK5P, REEP6, PCSK4, C19orf25, GAMT, APC2, NDUFS7, ADAMTSL5, DAZAP1, RPS15
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AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1098221
  • Data Attributes: MGI curated and HomoloGene calculated
MGI Allele ID Allele Symbol Allele Source Allele Type / Mutant Cell line ID
MGI:3044282Gamt[tm1Isb]Allele from Mouse Targeted (knock-out)
  • renal/urinary system phenotype
  • adipose tissue phenotype
  • homeostasis/metabolism phenotype
  • growth/size phenotype
  • endocrine/exocrine gland phenotype
  • cellular phenotype
  • behavior/neurological phenotype
  • reproductive system phenotype