Gene Gene information from NCBI Gene database.
Entrez ID 84154
Gene name Ribosome production factor 2 homolog
Gene symbol RPF2
Synonyms (NCBI Gene)
BXDC1bA397G5.4
Chromosome 6
Chromosome location 6q21
miRNA miRNA information provided by mirtarbase database.
304
miRTarBase ID miRNA Experiments Reference
MIRT712931 hsa-miR-3529-3p HITS-CLIP 19536157
MIRT712930 hsa-miR-3664-5p HITS-CLIP 19536157
MIRT712929 hsa-miR-3613-3p HITS-CLIP 19536157
MIRT712928 hsa-miR-3065-5p HITS-CLIP 19536157
MIRT712927 hsa-miR-371b-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0000027 Process Ribosomal large subunit assembly IEA
GO:0000463 Process Maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA
GO:0000470 Process Maturation of LSU-rRNA IEA
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0005515 Function Protein binding IPI 28514442, 30021884, 32296183, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
618471 20870 ENSG00000197498
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H7B2
Protein name Ribosome production factor 2 homolog (Brix domain-containing protein 1) (Ribosome biogenesis protein RPF2 homolog)
Protein function Involved in ribosomal large subunit assembly. May regulate the localization of the 5S RNP/5S ribonucleoprotein particle to the nucleolus.
PDB 8FL0 , 8IR1 , 8IR3 , 8RL2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04427 Brix 38 227 Brix domain Domain
Sequence
Sequence length 306
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
DRY EYE SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Vitiligo Associate 33463119
★☆☆☆☆
Found in Text Mining only