Gene Gene information from NCBI Gene database.
Entrez ID 554251
Gene name F-box protein 48
Gene symbol FBXO48
Synonyms (NCBI Gene)
-
Chromosome 2
Chromosome location 2p13.3
miRNA miRNA information provided by mirtarbase database.
234
miRTarBase ID miRNA Experiments Reference
MIRT303263 hsa-miR-5011-5p HITS-CLIP 21572407
MIRT523753 hsa-miR-190a-3p HITS-CLIP 21572407
MIRT523752 hsa-miR-6083 HITS-CLIP 21572407
MIRT303262 hsa-miR-1277-5p HITS-CLIP 21572407
MIRT679902 hsa-miR-4438 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
4
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005737 Component Cytoplasm IBA
GO:0019005 Component SCF ubiquitin ligase complex IBA
GO:0031146 Process SCF-dependent proteasomal ubiquitin-dependent protein catabolic process IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
620549 33857 ENSG00000204923
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5FWF7
Protein name F-box only protein 48 (F-box protein 48)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12937 F-box-like 35 82 F-box-like Domain
Sequence
MHKNSKRNNNLRVSHTEANSVDAEKEKNESQNNFFELLPAEITFKIFSQLDIRSLCRASL
TCRSWNDTIRNSDSLWKPHCMT
VRAVCRREIDDDLESGYSWRVILLRNYQKSKVKHEWLS
GRYSNICSPISLPEKIMYPMDADTWGEILEAELER
Sequence length 155
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
FEMALE INFERTILITY 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
Parkinson Disease Parkinson disease BEFREE 23485738
★☆☆☆☆
Found in Text Mining only