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

Gene Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	27232
Gene name Gene Name - the full gene name approved by the HGNC.	Glycine N-methyltransferase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	GNMT
Synonyms (NCBI Gene) Gene synonyms aliases	HEL-S-182mP
Chromosome Chromosome number	6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	6p21.1
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is an enzyme that catalyzes the conversion of S-adenosyl-L-methionine (along with glycine) to S-adenosyl-L-homocysteine and sarcosine. This protein is found in the cytoplasm and acts as a homotetramer. Defects in this gene

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miRTarBase ID	miRNA	Experiments	Reference
MIRT016781	hsa-miR-335-5p	Microarray	18185580
MIRT2437451	hsa-miR-1291	CLIP-seq
MIRT2437452	hsa-miR-3151	CLIP-seq
MIRT2437453	hsa-miR-328	CLIP-seq
MIRT2437454	hsa-miR-3650	CLIP-seq
MIRT2437455	hsa-miR-4283	CLIP-seq
MIRT2437456	hsa-miR-4447	CLIP-seq
MIRT2437457	hsa-miR-4472	CLIP-seq
MIRT2437458	hsa-miR-4489	CLIP-seq
MIRT2437459	hsa-miR-485-5p	CLIP-seq
MIRT2437460	hsa-miR-491-5p	CLIP-seq
MIRT2437451	hsa-miR-1291	CLIP-seq
MIRT2437452	hsa-miR-3151	CLIP-seq
MIRT2437453	hsa-miR-328	CLIP-seq
MIRT2437454	hsa-miR-3650	CLIP-seq
MIRT2437455	hsa-miR-4283	CLIP-seq
MIRT2437456	hsa-miR-4447	CLIP-seq
MIRT2437457	hsa-miR-4472	CLIP-seq
MIRT2437458	hsa-miR-4489	CLIP-seq
MIRT2437459	hsa-miR-485-5p	CLIP-seq
MIRT2437460	hsa-miR-491-5p	CLIP-seq

Transcription factors

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Transcription factor	Regulation	Reference
AR	Unknown	23997240

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16189514, 21988832, 26871637, 31515488, 32296183
GO:0005542	Function	Folic acid binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005977	Process	Glycogen metabolic process	IEA
GO:0006111	Process	Regulation of gluconeogenesis	IBA
GO:0006111	Process	Regulation of gluconeogenesis	IEA
GO:0006555	Process	Methionine metabolic process	IEA
GO:0006730	Process	One-carbon metabolic process	IBA
GO:0006730	Process	One-carbon metabolic process	IEA
GO:0008168	Function	Methyltransferase activity	IEA
GO:0016594	Function	Glycine binding	IBA
GO:0016594	Function	Glycine binding	IDA	15340920
GO:0016594	Function	Glycine binding	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0017174	Function	Glycine N-methyltransferase activity	IBA
GO:0017174	Function	Glycine N-methyltransferase activity	IDA	15340920
GO:0017174	Function	Glycine N-methyltransferase activity	IEA
GO:0032259	Process	Methylation	IEA
GO:0042802	Function	Identical protein binding	IBA
GO:0042802	Function	Identical protein binding	IPI	16189514, 25502805, 26871637, 31515488
GO:0046498	Process	S-adenosylhomocysteine metabolic process	IBA
GO:0046500	Process	S-adenosylmethionine metabolic process	IBA
GO:0046500	Process	S-adenosylmethionine metabolic process	IDA	15340920
GO:0046500	Process	S-adenosylmethionine metabolic process	IEA
GO:0051289	Process	Protein homotetramerization	IBA
GO:0051289	Process	Protein homotetramerization	IEA
GO:0051289	Process	Protein homotetramerization	IPI	15340920
GO:1901052	Process	Sarcosine metabolic process	IBA
GO:1904047	Function	S-adenosyl-L-methionine binding	IBA

MIM	HGNC	e!Ensembl
606628	4415	ENSG00000124713

Protein

UniProt ID

Q14749

Protein name

Glycine N-methyltransferase (EC 2.1.1.20)

Protein function

Catalyzes the methylation of glycine by using S-adenosylmethionine (AdoMet) to form N-methylglycine (sarcosine) with the concomitant production of S-adenosylhomocysteine (AdoHcy), a reaction regulated by the binding of 5-methyltetrahydrofolate.

PDB

1R74 , 2AZT

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13649	Methyltransf_25	61 → 171	Methyltransferase domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed only in liver, pancreas, and prostate. {ECO:0000269|PubMed:9495250}.

Sequence

MVDSVYRTRSLGVAAEGLPDQYADGEAARVWQLYIGDTRSRTAEYKAWLLGLLRQHGCQR
VLDVACGTGVDSIMLVEEGFSVTSVDASDKMLKYALKERWNRRHEPAFDKWVIEEANWMT
LDKDVPQSAEGGFDAVICLGNSFAHLPDCKGDQSEHRLALKNIASMVRAGGLLVIDHRNY
DHILSTGCAPPGKNIYYKSDLTKDVTTSVLIVNNKAHMVTLDYTVQVPGAGQDGSPGLSK
FRLSYYPHCLASFTELLQAAFGGKCQHSVLGDFKPYKPGQTYIPCYFIHVLKRTD

Sequence length

295

Interactions

View interactions

	KEGG		Reactome
	Glycine, serine and threonine metabolism Cysteine and methionine metabolism One carbon pool by folate Metabolic pathways		Glyoxylate metabolism and glycine degradation

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
glycine n-methyltransferase deficiency	Glycine N-methyltransferase deficiency	rs121907888, rs864321678	N/A

Show/Hide Text Mining Associations (16)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	37589509
Breast Neoplasms	Associate	24884785, 37747033
Carcinogenesis	Associate	21572396
Carcinoma Hepatocellular	Associate	21411609, 30138348, 32290267, 35008908
Dysplastic Nevus Syndrome	Associate	24999589
Heart Defects Congenital	Associate	28264803
Liver Diseases	Associate	30138348
Melanoma	Associate	24999589
Neoplasm Metastasis	Associate	25550822
Neoplasms	Inhibit	21411609
Neoplasms	Associate	21572396, 23883094
Oropharyngeal Neoplasms	Associate	32415241
Pancreatic Neoplasms	Associate	31706267
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	21790528
Prostatic Neoplasms	Associate	19212411, 21572396, 23883094, 23997240, 24800880, 28033303
Visceral myopathy familial external ophthalmoplegia	Associate	22137549

GNMT (glycine N-methyltransferase)