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	113179
Gene name	Adenosine deaminase tRNA specific 3
Gene symbol	ADAT3
Synonyms (NCBI Gene)	FWP005MRT36MST121MSTP121NEDBGFS863-5TAD3
Chromosome	19
Chromosome location	19p13.3
Summary	This gene encodes a subunit of a tRNA-specific adenosine deaminase. This heterodimeric enzyme converts adenosine to inosine in the tRNA anticodon. A mutation in this gene causes a syndrome characterized by intellectual disability and strabismus. This gene

Show/Hide all (11)

miRTarBase ID	miRNA	Experiments
MIRT767663	hsa-miR-147b	CLIP-seq
MIRT767664	hsa-miR-210	CLIP-seq
MIRT767665	hsa-miR-3155	CLIP-seq
MIRT767666	hsa-miR-3155b	CLIP-seq
MIRT767667	hsa-miR-484	CLIP-seq
MIRT1926203	hsa-miR-3184	CLIP-seq
MIRT1926204	hsa-miR-423-5p	CLIP-seq
MIRT1926205	hsa-miR-4459	CLIP-seq
MIRT1926206	hsa-miR-4758-3p	CLIP-seq
MIRT1926207	hsa-miR-4779	CLIP-seq
MIRT1926208	hsa-miR-665	CLIP-seq

Show/Hide all (7)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0008033	Process	TRNA processing	IEA
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
615302	25151	ENSG00000213638

Q96EY9

Protein name

Probable inactive tRNA-specific adenosine deaminase-like protein 3 (tRNA-specific adenosine-34 deaminase subunit ADAT3)

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00383	dCMP_cyt_deam_1	170 → 310	Cytidine and deoxycytidylate deaminase zinc-binding region	Family

Sequence

MEPAPGLVEQPKCLEAGSPEPEPAPWQALPVLSEKQSGDVELVLAYAAPVLDKRQTSRLL
KEVSALHPLPAQPHLKRVRPSRDAGSPHALEMLLCLAGPASGPRSLAELLPRPAVDPRGL
GQPFLVPVPARPPLTRGQFEEARAHWPTSFHEDKQVTSALAGRLFSTQERAAMQSHMERA
VWAARRAAARGLRAVGAVVVDPASDRVLATGHDCSCADNPLLHAVMVCVDLVARGQGRGT
YDFRPFPACSFAPAAAPQAVRAGAVRKLDADEDGLPYLCTGYDLYVTREPCAMCAMALVH
ARILRVFYGAPSPDGALGTRFRIHARPDLNHRFQVFRGVLEEQCRWLDPDT

Sequence length

351

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 disability-strabismus syndrome	Likely pathogenic; Pathogenic	rs752360082, rs746859902	RCV005023263 RCV000664409

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
ADAT3-related disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs76159002, rs937114381, rs12984675, rs556568423, rs139117131, rs146212621, rs200992550, rs576864116, rs202206209	RCV003976060 RCV003923328 RCV003914653 RCV003932782 RCV003925418 RCV003942620 RCV003925560 RCV003905851 RCV003953625
Intellectual disability	Uncertain significance	rs752566822, rs200437566	RCV001251871 RCV001251870
Microcephaly	Uncertain significance	rs1430965718	RCV001252922

Show/Hide Text Mining Associations (3)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Cerebral Palsy	Associate	35076175
Deafness Autosomal Recessive 36	Associate	35405382
Intellectual Disability	Associate	31263000, 32763916, 35405382

ADAT3 (adenosine deaminase tRNA specific 3)