Gene Gene information from NCBI Gene database.
Entrez ID 84294
Gene name UTP23 small subunit processome component
Gene symbol UTP23
Synonyms (NCBI Gene)
C8orf53
Chromosome 8
Chromosome location 8q24.11
miRNA miRNA information provided by mirtarbase database.
349
miRTarBase ID miRNA Experiments Reference
MIRT031537 hsa-miR-16-5p Proteomics 18668040
MIRT1481225 hsa-miR-1193 CLIP-seq
MIRT1481226 hsa-miR-1208 CLIP-seq
MIRT1481227 hsa-miR-122 CLIP-seq
MIRT1481228 hsa-miR-1226 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
GO ID Ontology Definition Evidence Reference
GO:0000480 Process Endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IEA
GO:0003723 Function RNA binding HDA 22658674
GO:0003730 Function MRNA 3'-UTR binding IDA 16213212
GO:0005515 Function Protein binding IPI 25416956, 32296183
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BRU9
Protein name rRNA-processing protein UTP23 homolog
Protein function Involved in rRNA-processing and ribosome biogenesis.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04900 Fcf1 51 149 Fcf1 Family
Sequence
MKITRQKHAKKHLGFFRNNFGVREPYQILLDGTFCQAALRGRIQLREQLPRYLMGETQLC
TTRCVLKELETLGKDLYGAKLIAQKCQVRNCPHFKNAVSGSECLLSMVEEGNPHHYFVAT
QDQNLSVKVKKKPGVPLMFIIQNTMVLDK
PSPKTIAFVKAVESGQLVSVHEKESIKHLKE
EQGLVKNTEQSRRKKRKKISGPNPLSCLKKKKKAPDTQSSASEKKRKRKRIRNRSNPKVL
SEKQNAEGE
Sequence length 249
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
COLON CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL ADENOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER 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
Adenocarcinoma of large intestine Colorectal Cancer GWASCAT_DG 25990418, 30510241
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma GWASCAT_DG 30510241
★☆☆☆☆
Found in Text Mining only
Blepharoptosis Ptosis CLINVAR_DG 30125677
★☆☆☆☆
Found in Text Mining only
Byzanthine arch palate High palate CLINVAR_DG 30125677
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 22367214, 26553438
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer GWASCAT_DG 25990418, 30510241
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 22367214, 26553438 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal Neoplasms GWASCAT_DG 25990418, 30510241
★☆☆☆☆
Found in Text Mining only
Congenital diaphragmatic hernia Congenital diaphragmatic hernia CLINVAR_DG 30125677
★☆☆☆☆
Found in Text Mining only
CORNELIA DE LANGE SYNDROME 4 Cornelia De Lange Syndrome CLINVAR_DG 22633399, 30125677
★☆☆☆☆
Found in Text Mining only