RBP Type	Non-canonical_RBPs
Diseases	SARS-COV-2
Drug	N.A.
Main interacting RNAs	N.A.
Moonlighting functions	Metabolic enzyme
Localizations	N.A.
BulkPerturb-seq

Ensembl ID	ENSG00000130005	Gene ID	2593	Accession	4136
Symbol	GAMT	Alias	PIG2;CCDS2;TP53I2;HEL-S-20	Full Name	guanidinoacetate N-methyltransferase
Status	Confidence	Length	4545 bases	Strand	Minus strand
Position	19 : 1397026 - 1401570	RNA binding domain	N.A.
Summary	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]

Protein	Domain	Pfam ID	E-value	Domain number

Pubmed ID	Full Name	Cell	Author	Time	Doi

Pubmed ID	Title	Author	Time	Journal

Name	Transcript ID	bp	Protein	Translation ID
GAMT-201	ENST00000252288	1110	236aa	ENSP00000252288
GAMT-205	ENST00000640762	751	213aa	ENSP00000492031
GAMT-204	ENST00000640164	520	No protein	-
GAMT-202	ENST00000447102	1769	269aa	ENSP00000403536
GAMT-203	ENST00000591788	401	108aa	ENSP00000466341

Pathway ID	Pathway Name	Source

ensgID	Trait	pValue	Pubmed ID

ensgID	SNP	Chromosome	Position	Trait	PubmedID	Or or BEAT	EFO ID

Ensembl ID	Source				Target
	Species	Protein ID	Perc_pos	Perc_id	Species	Protein ID	Perc_pos	Perc_id

Ensembl ID	Source				Target
	Species	Protein ID	Perc_pos	Perc_id	Species	Protein ID	Perc_pos	Perc_id

Go ID	Go term	No. evidence	Entries	Species	Category
GO:0005515	enables protein binding	1	IPI	Homo_sapiens(9606)	Function
GO:0005634	is_active_in nucleus	1	IBA	Homo_sapiens(9606)	Component
GO:0005737	is_active_in cytoplasm	1	IBA	Homo_sapiens(9606)	Component
GO:0005829	located_in cytosol	1	TAS	Homo_sapiens(9606)	Component
GO:0006600	involved_in creatine metabolic process	1	TAS	Homo_sapiens(9606)	Process
GO:0006601	involved_in creatine biosynthetic process	3	IBA,IDA,IEA	Homo_sapiens(9606)	Process
GO:0006936	involved_in muscle contraction	1	TAS	Homo_sapiens(9606)	Process
GO:0007283	involved_in spermatogenesis	1	IEA	Homo_sapiens(9606)	Process
GO:0008168	enables methyltransferase activity	1	TAS	Homo_sapiens(9606)	Function
GO:0009887	involved_in animal organ morphogenesis	1	IEA	Homo_sapiens(9606)	Process
GO:0030731	enables guanidinoacetate N-methyltransferase activity	2	IBA,IMP	Homo_sapiens(9606)	Function
GO:0032259	involved_in methylation	1	IEA	Homo_sapiens(9606)	Process
GO:0040014	involved_in regulation of multicellular organism growth	1	IEA	Homo_sapiens(9606)	Process