Gene Gene information from NCBI Gene database.
Entrez ID 25793
Gene name F-box protein 7
Gene symbol FBXO7
Synonyms (NCBI Gene)
FBXFBX07FBX7PARK15PKPS
Chromosome 22
Chromosome location 22q12.3
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
SNPs SNP information provided by dbSNP.
7
SNP ID Visualize variation Clinical significance Consequence
rs34316445 G>C,T Conflicting-interpretations-of-pathogenicity, uncertain-significance Coding sequence variant, missense variant
rs71799110 C>G,T Pathogenic Coding sequence variant, missense variant
rs121918304 C>A,T Pathogenic Coding sequence variant, synonymous variant, stop gained
rs121918305 C>T Pathogenic 5 prime UTR variant, genic upstream transcript variant, upstream transcript variant, missense variant, coding sequence variant
rs730880272 G>T Pathogenic Splice donor variant
miRNA miRNA information provided by mirtarbase database.
76
miRTarBase ID miRNA Experiments Reference
MIRT023257 hsa-miR-122-5p Microarray 17612493
MIRT037372 hsa-miR-877-5p CLASH 23622248
MIRT440651 hsa-miR-127-5p HITS-CLIP 24374217
MIRT440651 hsa-miR-127-5p HITS-CLIP 24374217
MIRT992950 hsa-miR-2278 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
53
GO ID Ontology Definition Evidence Reference
GO:0000151 Component Ubiquitin ligase complex IDA 23933751
GO:0000151 Component Ubiquitin ligase complex TAS 10531035
GO:0000422 Process Autophagy of mitochondrion IMP 23933751
GO:0004842 Function Ubiquitin-protein transferase activity TAS 10531035
GO:0005515 Function Protein binding IPI 15145941, 16278047, 21378169, 22632967, 23933751, 25029497, 25416956, 25910212, 26496610, 27705803, 28514442, 31515488, 32814053, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605648 13586 ENSG00000100225
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y3I1
Protein name F-box only protein 7
Protein function Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins and plays a role in several biological processes s
PDB 4L9C , 4L9H
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF11566 PI31_Prot_N 188 322 PI31 proteasome regulator N-terminal Family
PF00646 F-box 330 377 F-box domain Domain
Sequence
MRLRVRLLKRTWPLEVPETEPTLGHLRSHLRQSLLCTWGYSSNTRFTITLNYKDPLTGDE
ETLASYGIVSGDLICLILQDDIPAPNIPSSTDSEHSSLQNNEQPSLATSSNQTSMQDEQP
SDSFQGQAAQSGVWNDDSMLGPSQNFEAESIQDNAHMAEGTGFYPSEPMLCSESVEGQVP
HSLETLYQSADCSDANDALIVLIHLLMLESGYIPQGTEAKALSMPEKWKLSGVYKLQYMH
PLCEGSSATLTCVPLGNLIVVNATLKINNEIRSVKRLQLLPESFICKEKLGENVANIYKD
LQKLSRLFKDQLVYPLLAFTRQ
ALNLPDVFGLVVLPLELKLRIFRLLDVRSVLSLSAVCR
DLFTASNDPLLWRFLYL
RDFRDNTVRVQDTDWKELYRKRHIQRKESPKGRFVMLLPSSTH
TIPFYPNPLHPRPFPSSRLPPGIIGGEYDQRPTLPYVGDPISSLIPGPGETPSQFPPLRP
RFDPVGPLPGPNPILPGRGGPNDRFPFRPSRGRPTDGRLSFM
Sequence length 522
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Neddylation
Antigen processing: Ubiquitination & Proteasome degradation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
20
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
Clear cell carcinoma of kidney Likely pathogenic rs762209257 RCV005934959
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FBXO7-related disorder Likely pathogenic; Pathogenic rs1290655316 RCV003392591
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glioma susceptibility 1 Likely pathogenic rs762209257 RCV005934958
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Parkinsonian-pyramidal syndrome Pathogenic; Likely pathogenic rs1342038737, rs369105683, rs2146009225, rs750398883, rs71799110, rs121918304, rs730880272, rs121918305, rs376455464, rs151103559, rs1370252127, rs778770873, rs2544671633, rs2057587984, rs2057490468
View all (24 more)
RCV001950804
RCV003101279
RCV002226951
RCV003071818
RCV000005077
View all (37 more)
★★★★★
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
Acute myeloid leukemia Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Likely benign; Uncertain significance ClinVar
★★☆☆☆
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
Anxiety Anxiety Disorder BEFREE 26010069
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 26010069
★☆☆☆☆
Found in Text Mining only
Ataxia Ataxia Pubtator 36233161 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 37344480 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 15145941 Associate
★☆☆☆☆
Found in Text Mining only
Cardiomyopathies Cardiomyopathy Pubtator 38291374 Associate
★☆☆☆☆
Found in Text Mining only
Chromosomal Instability Chromosomal instability Pubtator 34791250 Inhibit
★☆☆☆☆
Found in Text Mining only
Cognition Disorders Cognition disorder Pubtator 20669327, 20853184 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 34791250 Inhibit
★☆☆☆☆
Found in Text Mining only
Congenital clubfoot Congenital Clubfoot HPO_DG
★☆☆☆☆
Found in Text Mining only