Gene Gene information from NCBI Gene database.
Entrez ID 26263
Gene name F-box protein 22
Gene symbol FBXO22
Synonyms (NCBI Gene)
FBX22FISTC1TYMAS
Chromosome 15
Chromosome location 15q24.2
Summary This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box
miRNA miRNA information provided by mirtarbase database.
183
miRTarBase ID miRNA Experiments Reference
MIRT046543 hsa-miR-1-3p CLASH 23622248
MIRT044372 hsa-miR-106b-5p CLASH 23622248
MIRT537422 hsa-miR-5692b PAR-CLIP 22012620
MIRT537421 hsa-miR-5692c PAR-CLIP 22012620
MIRT537420 hsa-miR-95-5p PAR-CLIP 22012620
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
GO ID Ontology Definition Evidence Reference
GO:0000209 Process Protein polyubiquitination IBA
GO:0000209 Process Protein polyubiquitination IEA
GO:0004842 Function Ubiquitin-protein transferase activity TAS 10531037
GO:0005515 Function Protein binding IPI 21145461, 26496610, 27705803, 32296183, 33961781
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
609096 13593 ENSG00000167196
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NEZ5
Protein name F-box only protein 22 (F-box protein FBX22p44)
Protein function Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex that is implicated in the control of various cellular processes such as cell cycle control, transcriptional regulation, DNA damage repair, and
PDB 8S7D , 8S7E , 8UA3 , 8UA6
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00646 F-box 21 67 F-box domain Domain
PF10442 FIST_C 278 365 FIST C domain Domain
Tissue specificity TISSUE SPECIFICITY: Predominantly expressed in liver, also enriched in cardiac muscle. {ECO:0000269|PubMed:22972877}.
Sequence
MEPVGCCGECRGSSVDPRSTFVLSNLAEVVERVLTFLPAKALLRVACVCRLWRECVRRVL
RTHRSVT
WISAGLAEAGHLEGHCLVRVVAEELENVRILPHTVLYMADSETFISLEECRGH
KRARKRTSMETALALEKLFPKQCQVLGIVTPGIVVTPMGSGSNRPQEIEIGESGFALLFP
QIEGIKIQPFHFIKDPKNLTLERHQLTEVGLLDNPELRVVLVFGYNCCKVGASNYLQQVV
STFSDMNIILAGGQVDNLSSLTSEKNPLDIDASGVVGLSFSGHRIQSATVLLNEDVSDEK
TAEAAMQRLKAANIPEHNTIGFMFACVGRGFQYYRAKGNVEADAFRKFFPSVPLFGFFGN
GEIGC
DRIVTGNFILRKCNEVKDDDLFHSYTTIMALIHLGSSK
Sequence length 403
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Salmonella infection   Neddylation
Antigen processing: Ubiquitination & Proteasome degradation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Neurodevelopmental disorder Pathogenic rs2141698833 RCV004798925
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tayoun-Maawali syndrome Pathogenic rs2141698833 RCV005401853
★★★★☆
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
GOUT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS Disgenet
★★☆☆☆
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 lung (disorder) Lung adenocarcinoma BEFREE 31217475
★☆☆☆☆
Found in Text Mining only
Arthritis, Gouty Gouty arthritis GWASDB_DG 23263486
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 29945959, 30418174, 31138683
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 34215846 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 36112263 Inhibit
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 31217475, 31257023
★☆☆☆☆
Found in Text Mining only
Carcinoma Pancreatic Ductal Pancreatic ductal carcinoma Pubtator 35046938 Stimulate
★☆☆☆☆
Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma Renal Carcinoma BEFREE 30745851
★☆☆☆☆
Found in Text Mining only
Gout Gout GWASDB_DG 23263486
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Liver carcinoma Liver carcinoma BEFREE 30808376
★☆☆☆☆
Found in Text Mining only