Gene Gene information from NCBI Gene database.
Entrez ID 55152
Gene name DALR anticodon binding domain containing 3
Gene symbol DALRD3
Synonyms (NCBI Gene)
DEE86EIEE86
Chromosome 3
Chromosome location 3p21.31
Summary The exact function of this gene is not known. It encodes a protein with a DALR anticodon binding domain similar to that of class Ia aminoacyl tRNA synthetases. This gene is located in a cluster of genes (with a complex sense-anti-sense genome architecture
miRNA miRNA information provided by mirtarbase database.
128
miRTarBase ID miRNA Experiments Reference
MIRT040896 hsa-miR-18a-3p CLASH 23622248
MIRT1973452 hsa-miR-129-5p CLIP-seq
MIRT1973453 hsa-miR-3140-3p CLIP-seq
MIRT1973454 hsa-miR-629 CLIP-seq
MIRT2447995 hsa-miR-101 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
GO ID Ontology Definition Evidence Reference
GO:0000049 Function TRNA binding IBA
GO:0000049 Function TRNA binding IDA 32427860
GO:0000049 Function TRNA binding IMP 39482881
GO:0000166 Function Nucleotide binding IEA
GO:0004812 Function Aminoacyl-tRNA ligase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
618904 25536 ENSG00000178149
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5D0E6
Protein name DALR anticodon-binding domain-containing protein 3
Protein function Involved in tRNA methylation. Facilitates the recognition and targeting of tRNA(Arg)(CCU) and tRNA(Arg)(UCU) substrates for N(3)-methylcytidine modification by METTL2A and METTL2B.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05746 DALR_1 403 543 DALR anticodon binding domain Domain
Sequence
MATRRLGVGETLGALNAALGPGGPVWIKETRTRHLRSRDFLAPHRALQARFDDGQVPEHL
LHALACLQGPGVAPVLRCAPTPAGLSLQLQRSAVFERVLSAVAAYATPASPASLGQRVLL
HCPALRSSPCALRLSQLRTVLVADHLARALRAHGVCVRLVPAVRDPHMLTFLQQLRVDWP
AASERASSHTLRSHALEELTSANDGRTLSPGILGRLCLKELVEEQGRTAGYDPNLDNCLV
TEDLLSVLAELQEALWHWPEDSHPGLAGASDTGTGGCLVVHVVSCEEEFQQQKLDLLWQK
LVDKAPLRQKHLICGPVKVAGAPGTLMTAPEYYEFRHTQVCKASALKHGGDLAQDPAWTE
IFGVLSVATIKFEMLSTAPQSQLFLALADSSISTKGTKSGTFVMYNCARLATLFESYKCS
MEQGLYPTFPPVSSLDFSLLHDEGEWLLLFNSILPFPDLLSRTAVLDCTAPGLHIAVRTE
MICKFLVQLSMDFSSYYNRVHILGEPRPHLFGQMFVRLQLLRAVREVLHTGLAMLGLPPL
SHI
Sequence length 543
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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)
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.
Phenotype Name Clinical Significance Source Evidence Score
DALRD3-related disorder Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86 Disgenet, HPO
Disgenet, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Developmental and epileptic encephalopathy, 86 Uncertain significance; Conflicting classifications of pathogenicity ClinVar
ClinVar, GWAS catalog
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
MYOCARDIAL INFARCTION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Brain Diseases Brain disease Pubtator 32427860 Associate
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Developmental disability Pubtator 32427860 Associate
★☆☆☆☆
Found in Text Mining only
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 Mitochondrial Complex Deficiency CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Non-specific early-onset epileptic encephalopathy Non-Specifi Epileptic Encephalopathy Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations