FBXW12 (F-box and WD repeat domain containing 12)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 285231
Gene name F-box and WD repeat domain containing 12
Gene symbol FBXW12
Synonyms (NCBI Gene)
FBW12FBXO12FBXO35
Chromosome 3
Chromosome location 3p21.31
Summary Members of the F-box protein family, such as FBXW12, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603034), and F-box proteins, act as protein-ubiquitin ligases. F-box pr
miRNA miRNA information provided by mirtarbase database.
3
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (3)
miRTarBase ID miRNA Experiments Reference
MIRT2532294 hsa-miR-1322 CLIP-seq
MIRT2532295 hsa-miR-3974 CLIP-seq
MIRT2532296 hsa-miR-4708-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
3
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (3)
GO ID Ontology Definition Evidence Reference
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol TAS
GO:0016567 Process Protein ubiquitination IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
609075 20729 ENSG00000164049
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6X9E4
Protein name F-box/WD repeat-containing protein 12 (F-box and WD-40 domain-containing protein 12) (F-box only protein 35)
Protein function Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex (PubMed:26171402). Promotes degradation of interleukin-22 receptor subunit IL22RA1 in resting and IL22-stimulated conditions by facilitating it
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12937 F-box-like 3 → 48 F-box-like Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:15040455}.
Sequence 
MEIRLPDLALKRIFSFLDLFGLLQVSQVNKHWNRIADSDYLWRSLSLQRWDCSNFTNQHL
GTHTWKQFFLHQRRKELRLALAQPHNFIYKVTKNIAFETELAYLSGNRLTVDEQEKSIIC
SVSPKQELCAWDVQEGTMIWSSPVQEFHFSNLVTLPQMHLAITMDRKKTIKVWNCQDRDA
LAVLPMPQPCYCMEAYLTKDGPFLMVGDAAGDIYTFTLPGLRDVSKVTAFQYGIVLLHCS
PDKKWVFACGTYSRTLPQVFLTESLLRPSEGSVPLSTFLPHKLCASACWTPKVKNRITLM
SQSSTGKKTEFITFDLTTKKTGGQTVIQAYEIASFQVAAHLKCPIWMGASDGYMIVFTSG
PYLLLFSITGFLLQRFEDHQAAINNFWVDPCYVLTTSENSVHVYMWEEGGRHPYLRSCCH
LENTWHDHTTDSCISSVMCDNASIVLRVRKVSDSSILVMYSLNT
Sequence length 464
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Neddylation
Antigen processing: Ubiquitination & Proteasome degradation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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)
Show/Hide Unknown Diseases (6)
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
AUTISM SPECTRUM DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHIES — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
KIDNEY CANCER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (6)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Carcinoma Ovarian Epithelial Epithelial ovarian carcinoma Pubtator 26617728 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 26617728
★★★★★
★☆☆☆☆
Found in Text Mining only
Epithelial ovarian cancer Ovarian cancer BEFREE 26617728
★★★★★
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 26617728
★★★★★
★☆☆☆☆
Found in Text Mining only
Neuroblastoma Neuroblastoma Pubtator 33934450 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Parkinson Disease Parkinson disease BEFREE 28341977
★★★★★
★☆☆☆☆
Found in Text Mining only