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	24140
Gene name	FtsJ RNA 2'-O-methyltransferase 1
Gene symbol	FTSJ1
Synonyms (NCBI Gene)	CDLIVJM23MRX44MRX9SPB1TRMT7XLID9
Chromosome	X
Chromosome location	Xp11.23
Summary	This gene encodes a member of the methyltransferase superfamily. The encoded protein localizes to the nucleolus, binds to S-adenosylmethionine, and may be involved in the processing and modification of ribosomal RNA. Mutations in this gene are associated

Show/Hide all (5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs143734567	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs797044864	T>A	Pathogenic	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs1569474795	->C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1602048728	A>G	Pathogenic	Splice acceptor variant, intron variant
rs1602048836	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, intron variant

Show/Hide all (52)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022963	hsa-miR-124-3p	Microarray	18668037
MIRT023951	hsa-miR-1-3p	Proteomics	18668040
MIRT049665	hsa-miR-92a-3p	CLASH	23622248
MIRT038539	hsa-miR-30c-1-3p	CLASH	23622248
MIRT1005806	hsa-miR-1200	CLIP-seq
MIRT1005807	hsa-miR-1260	CLIP-seq
MIRT1005808	hsa-miR-1260b	CLIP-seq
MIRT1005809	hsa-miR-188-3p	CLIP-seq
MIRT1005810	hsa-miR-3074-5p	CLIP-seq
MIRT1005811	hsa-miR-3149	CLIP-seq
MIRT1005812	hsa-miR-3156-3p	CLIP-seq
MIRT1005813	hsa-miR-3667-5p	CLIP-seq
MIRT1005814	hsa-miR-4301	CLIP-seq
MIRT1005815	hsa-miR-4468	CLIP-seq
MIRT1005816	hsa-miR-4504	CLIP-seq
MIRT1005817	hsa-miR-4517	CLIP-seq
MIRT1005818	hsa-miR-4664-3p	CLIP-seq
MIRT1005819	hsa-miR-4718	CLIP-seq
MIRT1005820	hsa-miR-582-3p	CLIP-seq
MIRT1005821	hsa-miR-671-3p	CLIP-seq
MIRT1005822	hsa-miR-938	CLIP-seq
MIRT1998053	hsa-miR-3653	CLIP-seq
MIRT1998054	hsa-miR-3658	CLIP-seq
MIRT1005817	hsa-miR-4517	CLIP-seq
MIRT2535639	hsa-miR-1266	CLIP-seq
MIRT2535640	hsa-miR-1273f	CLIP-seq
MIRT2535641	hsa-miR-143	CLIP-seq
MIRT2535642	hsa-miR-1470	CLIP-seq
MIRT2535643	hsa-miR-198	CLIP-seq
MIRT2535644	hsa-miR-2355-3p	CLIP-seq
MIRT2535645	hsa-miR-296-3p	CLIP-seq
MIRT2535646	hsa-miR-3065-5p	CLIP-seq
MIRT2535647	hsa-miR-3124-3p	CLIP-seq
MIRT2535648	hsa-miR-3127-5p	CLIP-seq
MIRT2535649	hsa-miR-3145-3p	CLIP-seq
MIRT2535650	hsa-miR-3158-3p	CLIP-seq
MIRT2535651	hsa-miR-3678-3p	CLIP-seq
MIRT2535652	hsa-miR-3682-3p	CLIP-seq
MIRT2535653	hsa-miR-3918	CLIP-seq
MIRT2535654	hsa-miR-4518	CLIP-seq
MIRT2535655	hsa-miR-4645-5p	CLIP-seq
MIRT2535656	hsa-miR-4646-3p	CLIP-seq
MIRT2535657	hsa-miR-4650-5p	CLIP-seq
MIRT2535658	hsa-miR-4667-3p	CLIP-seq
MIRT2535659	hsa-miR-4673	CLIP-seq
MIRT2535660	hsa-miR-4684-3p	CLIP-seq
MIRT2535661	hsa-miR-4708-5p	CLIP-seq
MIRT2535662	hsa-miR-4770	CLIP-seq
MIRT2535663	hsa-miR-499a-5p	CLIP-seq
MIRT2535664	hsa-miR-502-5p	CLIP-seq
MIRT2535665	hsa-miR-511	CLIP-seq
MIRT2535666	hsa-miR-570	CLIP-seq

Show/Hide all (32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001510	Process	RNA methylation	IEA
GO:0002128	Process	TRNA nucleoside ribose methylation	IEA
GO:0002128	Process	TRNA nucleoside ribose methylation	IMP	26310293
GO:0002130	Process	Wobble position ribose methylation	IDA	32558197
GO:0002181	Process	Cytoplasmic translation	IBA
GO:0002181	Process	Cytoplasmic translation	IEA
GO:0002181	Process	Cytoplasmic translation	IMP	32393790, 36720500
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IDA	32558197
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	32558197
GO:0005829	Component	Cytosol	TAS
GO:0006400	Process	TRNA modification	TAS
GO:0008033	Process	TRNA processing	IEA
GO:0008168	Function	Methyltransferase activity	IEA
GO:0008175	Function	TRNA methyltransferase activity	IBA
GO:0008175	Function	TRNA methyltransferase activity	IEA
GO:0016423	Function	TRNA (guanine) methyltransferase activity	IDA	32558197
GO:0016740	Function	Transferase activity	IEA
GO:0022008	Process	Neurogenesis	IDA	36720500
GO:0030488	Process	TRNA methylation	IBA
GO:0030488	Process	TRNA methylation	IEA
GO:0030488	Process	TRNA methylation	IGI	25404562
GO:0030488	Process	TRNA methylation	IMP	36720500
GO:0032259	Process	Methylation	IEA
GO:0106050	Function	TRNA 2'-O-methyltransferase activity	EXP	25404562, 26310293
GO:0106340	Function	TRNA (guanosine(34)-2'-O)-methyltransferase activity	EXP	25404562, 26310293
GO:0106340	Function	TRNA (guanosine(34)-2'-O)-methyltransferase activity	IEA
GO:0106340	Function	TRNA (guanosine(34)-2'-O)-methyltransferase activity	IMP	26310293, 36720500
GO:1904047	Function	S-adenosyl-L-methionine binding	IDA	32558197

MIM	HGNC	e!Ensembl
300499	13254	ENSG00000068438

Q9UET6

Protein name

tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase (EC 2.1.1.205) (2'-O-ribose RNA methyltransferase TRM7 homolog) (Protein ftsJ homolog 1)

Protein function

Methylates the 2'-O-ribose of nucleotides at positions 32 and 34 of the tRNA anticodon loop of substrate tRNAs (PubMed:25404562, PubMed:26310293, PubMed:32198346, PubMed:32558197, PubMed:33771871, PubMed:36720500). Requisite for faithful cytopla

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01728	FtsJ	21 → 199	FtsJ-like methyltransferase	Family

Tissue specificity

TISSUE SPECIFICITY: Found in fetal brain, lung, liver and kidney (PubMed:15162322). Widely expressed in adult tissue; with high expression in heart and liver, lower expression in skeletal muscle, kidney, and pancreas and also lowly expressed in brain and

Sequence

MGRTSKDKRDVYYRLAKENGWRARSAFKLLQLDKEFQLFQGVTRAVDLCAAPGSWSQVLS
QKIGGQGSGHVVAVDLQAMAPLPGVVQIQGDITQLSTAKEIIQHFKGCPADLVVCDGAPD
VTGLHDVDEYMQAQLLLAALNIATHVLKPGGCFVAKIFRGRDVTLLYSQLQVFFSSVLCA
KPRSSRNSSIEAFAVCQGYDPPEGFIPDLSKPLLDHSYDPDFNQLDGPTRIIVPFVTCGD
LSSYDSDRSYPLDLEGGSEYKYTPPTQPPISPPYQEACTLKRKGQLAKEIRPQDCPISRV
DTFPQPLAAPQCHTLLAPEMEDNEMSCSP

Sequence length

329

Interactions

View interactions

	Reactome
			tRNA modification in the nucleus and cytosol

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)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Intellectual disability	Pathogenic	rs2061565957	RCV001260765	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability, X-linked 9	Pathogenic	rs2519393316, rs1602048836, rs2519380502, rs1602048728, rs2061548936	RCV000011641 RCV000011642 RCV000011643 RCV000011644 RCV001251770	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (14)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Autism spectrum disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FTSJ1-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
History of neurodevelopmental disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 9	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, X-LINKED 9	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, X-LINKED NONSYNDROMIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SYNDROMIC X-LINKED INTELLECTUAL DISABILITY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sotos syndrome	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED COMPLEX NEURODEVELOPMENTAL DISORDER	—	ClinGen, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (37)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
2-3 toe syndactyly	Syndactyly Of The Toes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	29631977	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	25425167		★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Guillain-Barre Syndrome	Guillain-Barre Syndrome	BEFREE	14638773		★★★★★ ★☆☆☆☆ Found in Text Mining only
Guillain-Barre Syndrome, Familial	Guillain-Barre Syndrome	BEFREE	14638773		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	28019119		★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	18081026, 30557699		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	15342698, 17333282, 18081026, 25425167, 26310293, 30557699, 31586407		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	LHGDN	15342698, 17333282		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	15342698, 32558197, 36720500	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Liver carcinoma	Liver carcinoma	BEFREE	31089132		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Meckel Diverticulum	Meckel Diverticulum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Memory Disorders	Memory disorders	Pubtator	36720500	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	15342698, 17333282, 18081026		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	BEFREE	15162322, 18081026, 18401546		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	LHGDN	15162322, 18081026, 18401546		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked 1	Mental Retardation, X-Linked	BEFREE	12239714		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked 1	Mental Retardation, X-Linked	ORPHANET_DG	18081026		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked 9	Mental retardation	GENOMICS_ENGLAND_DG	15162322		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation, X-Linked 9	Mental retardation	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation, X-Linked Nonsyndromic	Mental retardation	CLINGEN_DG	10398246, 12239714, 15162322, 15342698, 18081026, 26310293, 8288232		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mild Mental Retardation	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild neurosensory hearing impairment	Neurosensory Hearing impairment	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28019119		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	25425167		★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked non-syndromic intellectual disability	Non-Syndromic Intellectual Disability, X-Linked	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

FTSJ1 (FtsJ RNA 2'-O-methyltransferase 1)