Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2593
Gene name	Guanidinoacetate N-methyltransferase
Gene symbol	GAMT
Synonyms (NCBI Gene)	CCDS2HEL-S-20PIG2TP53I2
Chromosome	19
Chromosome location	19p13.3
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 cre

Show/Hide all (28)

SNP ID	Visualize variation	Clinical significance	Consequence
rs80338734	C>A,G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs80338735	C>T	Pathogenic	Coding sequence variant, synonymous variant
rs80338736	->GGCCCAGTCCCGG	Pathogenic	Coding sequence variant, frameshift variant
rs104894694	T>G	Pathogenic	Coding sequence variant, missense variant
rs121909272	C>T	Pathogenic	Coding sequence variant, missense variant
rs145817990	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs147739199	A>C,G	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Missense variant, genic downstream transcript variant, downstream transcript variant, coding sequence variant
rs200444143	C>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs200833152	A>G	Conflicting-interpretations-of-pathogenicity, not-provided, likely-benign	Missense variant, coding sequence variant
rs370421531	C>A,G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs552210450	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs568392459	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Synonymous variant, coding sequence variant
rs570476209	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs747656257	G>A,T	Likely-pathogenic, uncertain-significance	Stop gained, coding sequence variant, missense variant
rs749390953	C>-,CC	Pathogenic	Frameshift variant, coding sequence variant
rs751099274	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs753198836	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs760101382	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs779931959	->GAGGTGAGGTTGCAG	Likely-pathogenic, uncertain-significance	Coding sequence variant, inframe insertion
rs796052525	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs886054247	A>T	Pathogenic	Missense variant, coding sequence variant
rs1057524499	T>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1131691644	T>G	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs1131691930	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1369786965	G>A	Pathogenic	Stop gained, coding sequence variant
rs1384688313	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1600158650	C>T	Likely-pathogenic	Splice acceptor variant
rs1600158894	C>G	Likely-pathogenic	Splice donor variant

Show/Hide all (71)

miRTarBase ID	miRNA	Experiments
MIRT1011709	hsa-miR-3545-3p	CLIP-seq
MIRT1011710	hsa-miR-3663-5p	CLIP-seq
MIRT1011711	hsa-miR-4496	CLIP-seq
MIRT1011712	hsa-miR-4635	CLIP-seq
MIRT1011713	hsa-miR-4680-5p	CLIP-seq
MIRT1011714	hsa-miR-651	CLIP-seq
MIRT2233184	hsa-miR-138	CLIP-seq
MIRT2233185	hsa-miR-3153	CLIP-seq
MIRT2233186	hsa-miR-320a	CLIP-seq
MIRT2233187	hsa-miR-320b	CLIP-seq
MIRT2233188	hsa-miR-320c	CLIP-seq
MIRT2233189	hsa-miR-320d	CLIP-seq
MIRT2233190	hsa-miR-4299	CLIP-seq
MIRT2233191	hsa-miR-4429	CLIP-seq
MIRT2233192	hsa-miR-642b	CLIP-seq
MIRT2536995	hsa-miR-1207-3p	CLIP-seq
MIRT2536996	hsa-miR-1273c	CLIP-seq
MIRT2233184	hsa-miR-138	CLIP-seq
MIRT2536997	hsa-miR-1915	CLIP-seq
MIRT2536998	hsa-miR-3683	CLIP-seq
MIRT2536999	hsa-miR-4446-3p	CLIP-seq
MIRT2537000	hsa-miR-4466	CLIP-seq
MIRT2537001	hsa-miR-4492	CLIP-seq
MIRT2537002	hsa-miR-4498	CLIP-seq
MIRT2537003	hsa-miR-450b-3p	CLIP-seq
MIRT2537004	hsa-miR-4519	CLIP-seq
MIRT2537005	hsa-miR-4685-5p	CLIP-seq
MIRT2537006	hsa-miR-4690-3p	CLIP-seq
MIRT2537007	hsa-miR-4713-3p	CLIP-seq
MIRT2537008	hsa-miR-4725-5p	CLIP-seq
MIRT2537009	hsa-miR-504	CLIP-seq
MIRT2537010	hsa-miR-548q	CLIP-seq
MIRT2537011	hsa-miR-638	CLIP-seq
MIRT2233192	hsa-miR-642b	CLIP-seq
MIRT2537012	hsa-miR-675	CLIP-seq
MIRT2537013	hsa-miR-762	CLIP-seq
MIRT2537014	hsa-miR-769-3p	CLIP-seq
MIRT2536995	hsa-miR-1207-3p	CLIP-seq
MIRT2536996	hsa-miR-1273c	CLIP-seq
MIRT2233184	hsa-miR-138	CLIP-seq
MIRT2536997	hsa-miR-1915	CLIP-seq
MIRT2681450	hsa-miR-3620	CLIP-seq
MIRT2536998	hsa-miR-3683	CLIP-seq
MIRT2681451	hsa-miR-3690	CLIP-seq
MIRT2681452	hsa-miR-378	CLIP-seq
MIRT2681453	hsa-miR-378b	CLIP-seq
MIRT2681454	hsa-miR-378c	CLIP-seq
MIRT2681455	hsa-miR-378d	CLIP-seq
MIRT2681456	hsa-miR-378e	CLIP-seq
MIRT2681457	hsa-miR-378f	CLIP-seq
MIRT2681458	hsa-miR-378h	CLIP-seq
MIRT2681459	hsa-miR-378i	CLIP-seq
MIRT2681460	hsa-miR-422a	CLIP-seq
MIRT2681461	hsa-miR-4308	CLIP-seq
MIRT2536999	hsa-miR-4446-3p	CLIP-seq
MIRT2537000	hsa-miR-4466	CLIP-seq
MIRT2537001	hsa-miR-4492	CLIP-seq
MIRT2537002	hsa-miR-4498	CLIP-seq
MIRT2537003	hsa-miR-450b-3p	CLIP-seq
MIRT2537004	hsa-miR-4519	CLIP-seq
MIRT2537005	hsa-miR-4685-5p	CLIP-seq
MIRT2537006	hsa-miR-4690-3p	CLIP-seq
MIRT2537007	hsa-miR-4713-3p	CLIP-seq
MIRT2537008	hsa-miR-4725-5p	CLIP-seq
MIRT2537009	hsa-miR-504	CLIP-seq
MIRT2537010	hsa-miR-548q	CLIP-seq
MIRT2537011	hsa-miR-638	CLIP-seq
MIRT2233192	hsa-miR-642b	CLIP-seq
MIRT2537012	hsa-miR-675	CLIP-seq
MIRT2537013	hsa-miR-762	CLIP-seq
MIRT2537014	hsa-miR-769-3p	CLIP-seq

Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	28514442, 32296183, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005737	Component	Cytoplasm	IBA
GO:0005829	Component	Cytosol	TAS
GO:0006600	Process	Creatine metabolic process	TAS
GO:0006601	Process	Creatine biosynthetic process	IBA
GO:0006601	Process	Creatine biosynthetic process	IDA	8651275
GO:0006601	Process	Creatine biosynthetic process	IEA
GO:0006601	Process	Creatine biosynthetic process	IEA
GO:0006601	Process	Creatine biosynthetic process	TAS	9325156
GO:0006936	Process	Muscle contraction	TAS	8547310
GO:0007283	Process	Spermatogenesis	IEA
GO:0008168	Function	Methyltransferase activity	IEA
GO:0008168	Function	Methyltransferase activity	TAS	9325156
GO:0009887	Process	Animal organ morphogenesis	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030731	Function	Guanidinoacetate N-methyltransferase activity	IBA
GO:0030731	Function	Guanidinoacetate N-methyltransferase activity	IEA
GO:0030731	Function	Guanidinoacetate N-methyltransferase activity	IMP	8651275
GO:0032259	Process	Methylation	IEA
GO:0040014	Process	Regulation of multicellular organism growth	IEA

MIM	HGNC	e!Ensembl
601240	4136	ENSG00000130005

Q14353

Protein name

Guanidinoacetate N-methyltransferase (EC 2.1.1.2)

Protein function

Converts guanidinoacetate to creatine, using S-adenosylmethionine as the methyl donor (PubMed:24415674, PubMed:26003046, PubMed:26319512). Important in nervous system development (PubMed:24415674). {ECO:0000269|PubMed:24415674, ECO:0000269|PubMe

PDB

3ORH

Family and domains

Tissue specificity

TISSUE SPECIFICITY: Expressed in liver. {ECO:0000269|PubMed:8651275}.

Sequence

MSAPSATPIFAPGENCSPAWGAAPAAYDAADTHLRILGKPVMERWETPYMHALAAAASSK
GGRVLEVGFGMAIAASKVQEAPIDEHWIIECNDGVFQRLRDWAPRQTHKVIPLKGLWEDV
APTLPDGHFDGILYDTYPLSEETWHTHQFNFIKNHAFRLLKPGGVLTYCNLTSWGELMKS
KYSDITIMFEETQVPALLEAGFRRENIRTEVMALVPPADCRYYAFPQMITPLVTKG

Sequence length

236

Interactions

View interactions

	KEGG		Reactome
	Glycine, serine and threonine metabolism Arginine and proline metabolism Metabolic pathways		Creatine metabolism

793

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the nervous system	Pathogenic	rs1369786965	RCV001814217
Cerebral creatine deficiency syndrome	Likely pathogenic; Pathogenic	rs2144636246, rs2144638033, rs2144640856, rs2144636856, rs2144637533, rs2144638048, rs2082622867, rs1215576338, rs2082632611, rs1569009071, rs80338734, rs745740974, rs1483148182, rs2144636455, rs2144640900 View all (69 more)	RCV001379333 RCV001377759 RCV001379555 RCV001390318 RCV001383246 RCV001386526 RCV001386769 RCV001389319 RCV001382287 RCV001389180 RCV001381037 RCV001761398 RCV001761400 RCV001999757 RCV001987598 RCV001892971 RCV001943659 RCV001926354 RCV001994756 RCV002037737 RCV001890336 RCV001913912 RCV002040462 RCV001942067 RCV001883192 RCV001877652 RCV001908704 RCV001963237 RCV001975085 RCV003586325 RCV003050512 RCV003112399 RCV001378842 RCV000539751 RCV001300727 RCV002517861 RCV002516992 RCV002766922 RCV002811559 RCV002810280 RCV002872002 RCV002947953 RCV002994505 RCV003002438 RCV003012056 RCV003055218 RCV001211627 RCV000534459 RCV000799554 RCV001762039 RCV001851745 RCV003586387 RCV003586425 RCV003586428 RCV003586928 RCV003587559 RCV003747228 RCV003747352 RCV003747364 RCV003882108 RCV000655367 RCV001224201 RCV001389010 RCV000695868 RCV001382861 RCV000655365 RCV000655356 RCV000655363 RCV000694724 RCV000686487 RCV000822144 RCV001766770 RCV001386710 RCV005411624 RCV003746569 RCV001766818 RCV001860605 RCV001059955 RCV001053709 RCV001064338 RCV001054392 RCV001059066 RCV001055959 RCV001047942 RCV001325103 RCV001218543 RCV001209481 RCV001211804 RCV001879840 RCV003746586
Deficiency of guanidinoacetate methyltransferase	Likely pathogenic; Pathogenic	rs2144636246, rs2144638033, rs2144637533, rs2144638048, rs2082622867, rs1215576338, rs1569009071, rs80338734, rs2144640849, rs2144638078, rs2082632873, rs745740974, rs1483148182, rs2144636453, rs1600158570 View all (65 more)	RCV003298627 RCV003469631 RCV003462990 RCV003469721 RCV002504647 RCV003469756 RCV004584892 RCV003462972 RCV001420144 RCV001542501 RCV004596481 RCV002260948 RCV003298978 RCV003159214 RCV004596490 RCV003482165 RCV003470992 RCV003159218 RCV003159217 RCV003464328 RCV002283405 RCV003334076 RCV003459777 RCV001833115 RCV000316896 RCV002305456 RCV002305455 RCV001329066 RCV003146644 RCV005028107 RCV000490258 RCV000008800 RCV000008801 RCV000008802 RCV000008803 RCV003334081 RCV003159287 RCV003159288 RCV003159290 RCV003159291 RCV003159292 RCV003159293 RCV003159294 RCV003226645 RCV003230881 RCV003307395 RCV003307396 RCV003307397 RCV003307398 RCV003307399 RCV003468250 RCV003461654 RCV003468251 RCV003461655 RCV003482173 RCV003482174 RCV005030181 RCV003988788 RCV000020141 RCV004576659 RCV000389374 RCV003159118 RCV002305494 RCV000587091 RCV005252056 RCV001835900 RCV001253217 RCV001784322 RCV001553736 RCV002305546 RCV000857223 RCV001827125 RCV006270236 RCV001030778 RCV001009565 RCV003467804 RCV003159176 RCV001827416 RCV003467775 RCV003482159 RCV003467780 RCV001832448 RCV003159182 RCV001780138 RCV001780120 RCV002222687 RCV001262463
GAMT-related disorder	Pathogenic; Likely pathogenic	rs865951519, rs370421531, rs1371496558, rs967689898	RCV003919013 RCV003907657 RCV003928960 RCV003413863
Intellectual disability	Likely pathogenic	rs2082618808	RCV001251993
Parkinson disease, late-onset	Pathogenic	rs761621516	RCV005235769
See cases	Pathogenic	rs80338734	RCV002251891

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign	rs266808	RCV005921950
Cholangiocarcinoma	Benign	rs266808	RCV005921951
Guanidinoacetate methyltransferase (GAMT) deficiency	Benign	rs200833152	RCV001009545
Uterine corpus endometrial carcinoma	Benign	rs266808	RCV005921952

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Colonic Neoplasms	Associate	35712285
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	35588794
Creatine deficiency X linked	Associate	23234264, 28758966, 35588794, 38452609
Creatine deficiency X linked	Inhibit	40338959
Immunologic Deficiency Syndromes	Associate	36671459
Pancreatic Neoplasms	Associate	38297362
Placenta Diseases	Associate	31991880
Pre Eclampsia	Stimulate	31991880
Stomach Neoplasms	Associate	36790659

GAMT (guanidinoacetate N-methyltransferase)