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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	221078
Gene name	NOP2/Sun RNA methyltransferase 6
Gene symbol	NSUN6
Synonyms (NCBI Gene)	4933414E04RikARL5B-AS1MRT82NOPD1
Chromosome	10
Chromosome location	10p12.31

Show/Hide all (25)

miRTarBase ID	miRNA	Experiments
MIRT1195533	hsa-miR-1324	CLIP-seq
MIRT1195534	hsa-miR-140-3p	CLIP-seq
MIRT1195535	hsa-miR-151-3p	CLIP-seq
MIRT1195536	hsa-miR-3120-3p	CLIP-seq
MIRT1195537	hsa-miR-34c-3p	CLIP-seq
MIRT1195538	hsa-miR-3673	CLIP-seq
MIRT1195539	hsa-miR-377	CLIP-seq
MIRT1195540	hsa-miR-545	CLIP-seq
MIRT1195541	hsa-miR-548aa	CLIP-seq
MIRT1195542	hsa-miR-548ac	CLIP-seq
MIRT1195543	hsa-miR-548d-3p	CLIP-seq
MIRT1195544	hsa-miR-548z	CLIP-seq
MIRT2056760	hsa-miR-3646	CLIP-seq
MIRT2056761	hsa-miR-3647-3p	CLIP-seq
MIRT2056762	hsa-miR-4719	CLIP-seq
MIRT1195533	hsa-miR-1324	CLIP-seq
MIRT1195534	hsa-miR-140-3p	CLIP-seq
MIRT1195536	hsa-miR-3120-3p	CLIP-seq
MIRT2285180	hsa-miR-4652-3p	CLIP-seq
MIRT1195540	hsa-miR-545	CLIP-seq
MIRT1195541	hsa-miR-548aa	CLIP-seq
MIRT1195542	hsa-miR-548ac	CLIP-seq
MIRT1195543	hsa-miR-548d-3p	CLIP-seq
MIRT1195544	hsa-miR-548z	CLIP-seq
MIRT2285181	hsa-miR-587	CLIP-seq

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000049	Function	TRNA binding	IDA	26160102, 28531330
GO:0001510	Process	RNA methylation	IBA
GO:0001510	Process	RNA methylation	IEA
GO:0002946	Process	TRNA C5-cytosine methylation	IDA	26160102
GO:0003723	Function	RNA binding	IEA
GO:0005737	Component	Cytoplasm	IDA	26160102
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006396	Process	RNA processing	IEA
GO:0006400	Process	TRNA modification	IDA	37226891
GO:0006400	Process	TRNA modification	TAS
GO:0008168	Function	Methyltransferase activity	IEA
GO:0008173	Function	RNA methyltransferase activity	IEA
GO:0008757	Function	S-adenosylmethionine-dependent methyltransferase activity	IEA
GO:0016428	Function	TRNA (cytidine-5-)-methyltransferase activity	EXP	26160102
GO:0016428	Function	TRNA (cytidine-5-)-methyltransferase activity	IDA	26160102, 27703015, 28531330, 37226891
GO:0016740	Function	Transferase activity	IEA
GO:0030488	Process	TRNA methylation	IDA	28531330
GO:0032259	Process	Methylation	IEA

MIM	HGNC	e!Ensembl
617199	23529	ENSG00000241058

Q8TEA1

Protein name

tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 (EC 2.1.1.-) (NOL1/NOP2/Sun and PUA domain-containing protein 1) (NOL1/NOP2/Sun domain family member 6)

Protein function

S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the C5 position of cytosine 72 in tRNA(Thr)(TGT) and tRNA(Cys)(GCA) (PubMed:26160102, PubMed:27703015, PubMed:28531330). In vitro also methylates tRNA(Thr)(AGT) (Pu

PDB

5WWQ , 5WWR , 5WWS , 5WWT , 9IMB

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01189	Methyltr_RsmB-F	227 → 464	16S rRNA methyltransferase RsmB/F	Family

Sequence

MSIFPKISLRPEVENYLKEGFMNKEIVTALGKQEAERKFETLLKHLSHPPSFTTVRVNTH
LASVQHVKNLLLDELQKQFNGLSVPILQHPDLQDVLLIPVIGPRKNIKKQQCEAIVGAQC
GNAVLRGAHVYAPGIVSASQFMKAGDVISVYSDIKGKCKKGAKEFDGTKVFLGNGISELS
RKEIFSGLPELKGMGIRMTEPVYLSPSFDSVLPRYLFLQNLPSALVSHVLNPQPGEKILD
LCAAPGGKTTHIAALMHDQGEVIALDKIFNKVEKIKQNALLLGLNSIRAFCFDGTKAVKL
DMVEDTEGEPPFLPESFDRILLDAPCSGMGQRPNMACTWSVKEVASYQPLQRKLFTAAVQ
LLKPEGVLVYSTCTITLAENEEQVAWALTKFPCLQLQPQEPQIGGEGMRGAGLSCEQLKQ
LQRFDPSAVPLPDTDMDSLREARREDMLRLANKDSIGFFIAKFVKCKST

Sequence length

469

Interactions

View interactions

	Reactome
			tRNA modification in the nucleus and cytosol

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Intellectual developmental disorder, autosomal recessive 82	Pathogenic	rs774705707, rs779073348	RCV003994778 RCV003994779

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Stimulate	40640303
Alzheimer Disease	Associate	36646969
Brain Injuries Traumatic	Associate	36646969
Carcinoma Renal Cell	Associate	40640303
Cholangiocarcinoma	Inhibit	40640303
Colorectal Neoplasms	Associate	35212022
Glioblastoma	Associate	34705606
Glioma	Inhibit	40561176
Glioma of Brain Familial	Associate	40640303
Neoplasms	Associate	34705606
Neoplasms	Stimulate	40640303
Pancreatic Neoplasms	Stimulate	40640303
Thyroid Neoplasms	Inhibit	40640303

NSUN6 (NOP2/Sun RNA methyltransferase 6)