ADAT3 (adenosine deaminase tRNA specific 3)

Gene

• Entrez ID: 113179
• Gene name: Adenosine deaminase tRNA specific 3
• Gene symbol: ADAT3
• Synonyms (NCBI Gene): FWP005, MRT36, MST121, MSTP121, NEDBGF, S863-5, TAD3
• 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
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

Gene ontology (GO)

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

Other IDs

• MIM: 615302
• HGNC: 25151
• e!Ensembl: ENSG00000213638

Protein

• UniProt ID: 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

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 disability-strabismus syndrome	Likely pathogenic; Pathogenic	rs752360082, rs746859902	RCV005023263 RCV000664409	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ADAT3-related disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY WITH STRABISMUS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER WITH BRAIN ABNORMALITIES, POOR GROWTH, AND DYSMORPHIC FACIES	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	35076175	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	26842963		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	26842963, 30296593, 31263000		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Intellectual developmental disorder	Pubtator	31263000, 32763916, 35405382	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability-strabismus syndrome	Intellectual Disability-Strabismus Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36	Mental retardation	ORPHANET_DG	23620220		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36	Mental retardation	UNIPROT_DG	23620220		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36	Mental retardation	GENOMICS_ENGLAND_DG	29796286		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36	Mental retardation	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Recurrent otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	BEFREE	26842963		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only