Gene Gene information from NCBI Gene database.
Entrez ID 79712
Gene name Queuosine-tRNA mannosyltransferase
Gene symbol QTMAN
Synonyms (NCBI Gene)
GTDC1Hmat-Xamat-Xa
Chromosome 2
Chromosome location 2q22.3
miRNA miRNA information provided by mirtarbase database.
557
miRTarBase ID miRNA Experiments Reference
MIRT716978 hsa-miR-101-5p HITS-CLIP 19536157
MIRT716977 hsa-miR-188-5p HITS-CLIP 19536157
MIRT716976 hsa-miR-6866-3p HITS-CLIP 19536157
MIRT716975 hsa-miR-3127-3p HITS-CLIP 19536157
MIRT716974 hsa-miR-6756-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
GO ID Ontology Definition Evidence Reference
GO:0005634 Component Nucleus IDA 37992713
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IDA 37992713
GO:0005737 Component Cytoplasm IEA
GO:0006400 Process TRNA modification IDA 37992713
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610165 20887 ENSG00000121964
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q4AE62
Protein name tRNA-queuosine alpha-mannosyltransferase (QTMAN) (EC 2.4.1.110) (Glycosyltransferase-like domain-containing protein 1) (Mannosyltransferase-like protein Xa) (Mat-Xa)
Protein function Glycosyltransferase that specifically catalyzes mannosylation of cytoplasmic tRNA(Asp) modified with queuosine at position 34 (queuosine(34)) (PubMed:37992713). Mannosylates the cyclopentene moiety of queuosine(34) in tRNA(Asp) to form mannosyl-
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12038 DUF3524 2 167 Domain of unknown function (DUF3524) Family
PF00534 Glycos_transf_1 279 457 Glycosyl transferases group 1 Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Expressed at high levels in the lung, brain, spleen, testis, placenta. ovary, pancreas, spleen and peripheral blood leukocytes. Expressed at low level in the colon, small intestine, kidney, skeletal muscle and thymus. Expre
Sequence
Sequence length 458
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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
Colon adenocarcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma Benign ClinVar
★★☆☆☆
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
Alzheimer Disease Alzheimer disease Pubtator 31646584 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 36458010 Associate
★☆☆☆☆
Found in Text Mining only
Neurodevelopmental Disorders Neurodevelopmental Disorders BEFREE 28365779
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Oral Ulcer Oral Ulcer GWASCAT_DG 30837455
★☆☆☆☆
Found in Text Mining only
Schizophrenia Schizophrenia GWASDB_DG 22037555
★☆☆☆☆
Found in Text Mining only