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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2593
Gene name Gene Name - the full gene name approved by the HGNC.	Guanidinoacetate N-methyltransferase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	GAMT
Synonyms (NCBI Gene) Gene synonyms aliases	CCDS2, HEL-S-20, PIG2, TP53I2
Disease Acronyms (UniProt) Disease acronyms from UniProt database	CCDS2
Chromosome Chromosome number	19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	19p13.3
Summary Summary of gene provided in NCBI Entrez Gene.	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(17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005829	Component	Cytosol	TAS
GO:0006600	Process	Creatine metabolic process	TAS
GO:0006601	Process	Creatine biosynthetic process	IBA	21873635
GO:0006601	Process	Creatine biosynthetic process	IDA	8651275
GO:0006601	Process	Creatine biosynthetic process	IEA
GO:0006936	Process	Muscle contraction	TAS	8547310
GO:0007283	Process	Spermatogenesis	IEA
GO:0008168	Function	Methyltransferase activity	TAS
GO:0008757	Function	S-adenosylmethionine-dependent methyltransferase activity	IBA	21873635
GO:0009887	Process	Animal organ morphogenesis	IEA
GO:0030731	Function	Guanidinoacetate N-methyltransferase activity	IBA	21873635
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

Protein

UniProt ID

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

Show/Hide Causal Diseases (4)

Disease term	Disease name	dbSNP ID	References
Causal
Autism	Autistic Disorder	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699 View all (8 more)
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Mental retardation	Profound Mental Retardation, Severe intellectual disability, Mental deficiency, Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)	15651030, 8651275
Seizure	Complex partial seizures, Generalized seizures, Visual seizure, Tonic - clonic seizures, Single Seizure	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061 View all (179 more)	15651030

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Creatine deficiency	Creatine deficiency, X-linked			ClinVar

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References
Associations from Text Mining
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)