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.	24140
Gene name Gene Name - the full gene name approved by the HGNC.	FtsJ RNA 2'-O-methyltransferase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	FTSJ1
Synonyms (NCBI Gene) Gene synonyms aliases	CDLIV, JM23, MRX44, MRX9, SPB1, TRMT7, XLID9
Disease Acronyms (UniProt) Disease acronyms from UniProt database	XLID9
Chromosome Chromosome number	X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	Xp11.23
Summary Summary of gene provided in NCBI Entrez Gene.	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(12)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001510	Process	RNA methylation	IBA	21873635
GO:0002128	Process	TRNA nucleoside ribose methylation	IEA
GO:0002181	Process	Cytoplasmic translation	IBA	21873635
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005829	Component	Cytosol	TAS
GO:0006400	Process	TRNA modification	TAS
GO:0008173	Function	RNA methyltransferase activity	IBA	21873635
GO:0008175	Function	TRNA methyltransferase activity	IBA	21873635
GO:0009020	Function	TRNA (guanosine-2'-O-)-methyltransferase activity	EXP	25404562, 26310293
GO:0030488	Process	TRNA methylation	IBA	21873635
GO:0052666	Function	TRNA (cytosine-2'-O-)-methyltransferase activity	EXP	25404562, 26310293

MIM	HGNC	e!Ensembl
300499	13254	ENSG00000068438

Protein

UniProt ID

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

Show/Hide Causal Diseases (8)

Disease term	Disease name	dbSNP ID	References
Causal
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs786205019
Autism	Autistic behavior	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699 View all (8 more)
Developmental delay	Global developmental delay, Gross motor development delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Mental retardation	Severe intellectual disability, Mild Mental Retardation, Moderate intellectual disability, Mental Retardation, X-Linked 9, Mental Retardation, X-Linked Nonsyndromic	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)	15162322, 26310293, 8288232, 10398246, 12239714, 18081026, 15342698
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Mental retardation, x-linked	Mental Retardation, X-Linked 1	rs1603009115, rs199422240, rs199422234, rs782600511, rs199422235, rs199422236, rs199422237, rs199422238, rs199422239, rs2147483647, rs137852561, rs104894952, rs137852350, rs137852351, rs137852352 View all (405 more)	18081026
Obesity	Obesity	rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562 View all (27 more)
Seizure	Tonic - clonic seizures	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061 View all (179 more)

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Neurodevelopmental Disorders	X-linked complex neurodevelopmental disorder			GenCC

Show/Hide Text Mining Associations (6)

Disease Name	Relationship Type	References
Associations from Text Mining
Developmental Disabilities	Associate	29631977
Intellectual Disability	Associate	15342698, 32558197, 36720500
Memory Disorders	Associate	36720500
Mental Retardation X Linked	Associate	15342698
Mental Retardation X Linked Nonsyndromic	Associate	15162322, 26310293
Neoplasms	Associate	36720500

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