NSUN6 (NOP2/Sun RNA methyltransferase 6)

Gene

• Entrez ID: 221078
• Gene name: NOP2/Sun RNA methyltransferase 6
• Gene symbol: NSUN6
• Synonyms (NCBI Gene): 4933414E04Rik, ARL5B-AS1, MRT82, NOPD1
• Chromosome: 10
• Chromosome location: 10p12.31

miRNA

miRTarBase ID	miRNA	Experiments	Reference
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

Gene ontology (GO)

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

Other IDs

• MIM: 617199
• HGNC: 23529
• e!Ensembl: ENSG00000241058

Protein

• UniProt ID: 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

Pathways

Reactome:

tRNA modification in the nucleus and cytosol

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Intellectual developmental disorder, autosomal recessive 82	Pathogenic	rs774705707, rs779073348	RCV003994778 RCV003994779	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	36646969	Associate	★☆☆☆☆ Found in Text Mining only
Brain Injuries Traumatic	Brain injuries	Pubtator	36646969	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	28114269		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	40640303	Associate	★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	40640303	Inhibit	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35212022	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	34705606	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	40561176	Inhibit	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	28114269		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	28114269		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	28114269		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	28114269		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	40640303	Stimulate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	30285260		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Neoplasms	Thyroid cancer	Pubtator	40640303	Inhibit	★☆☆☆☆ Found in Text Mining only