Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
80204
Gene name Gene Name - the full gene name approved by the HGNC.
F-box protein 11
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FBXO11
Synonyms (NCBI Gene) Gene synonyms aliases
FBX11, IDDFBA, PRMT9, UBR6, UG063H01, VIT1
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p16.3
Summary Summary of gene provided in NCBI Entrez Gene.
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 ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), w
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1553334863 TA>- Pathogenic Stop gained, coding sequence variant
rs1553334874 ->A Pathogenic Stop gained, coding sequence variant
rs1553335247 A>G Pathogenic Coding sequence variant, missense variant
rs1553338592 T>C Pathogenic Coding sequence variant, missense variant
rs1553342101 ->C Pathogenic Splice donor variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT025191 hsa-miR-181a-5p Sequencing 20371350
MIRT027332 hsa-miR-101-3p Sequencing 20371350
MIRT030357 hsa-miR-26b-5p Sequencing 20371350
MIRT031059 hsa-miR-21-5p Microarray 18591254
MIRT039392 hsa-miR-421 CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000151 Component Ubiquitin ligase complex NAS 10531035, 10531037
GO:0001837 Process Epithelial to mesenchymal transition IDA 16096638
GO:0004842 Function Ubiquitin-protein transferase activity IEA
GO:0004842 Function Ubiquitin-protein transferase activity NAS 10531035
GO:0005515 Function Protein binding IPI 17098746, 20596027, 22113614, 22632967, 25203322, 25416956, 27705803, 29892012, 31515488, 33961781
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607871 13590 ENSG00000138081
Protein
UniProt ID Q86XK2
Protein name F-box only protein 11 (Protein arginine N-methyltransferase 9) (Vitiligo-associated protein 1) (VIT-1)
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, such as DTL/CDT2, BCL6, SNAI1 and PRDM1/BLIMP1 (P
PDB 5VMD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12937 F-box-like 157 202 F-box-like Domain
PF13229 Beta_helix 329 495 Right handed beta helix region Family
PF13229 Beta_helix 387 535 Right handed beta helix region Family
PF13229 Beta_helix 481 635 Right handed beta helix region Family
PF13229 Beta_helix 583 714 Right handed beta helix region Family
PF13229 Beta_helix 664 823 Right handed beta helix region Family
PF02207 zf-UBR 834 901 Putative zinc finger in N-recognin (UBR box) Family
Tissue specificity TISSUE SPECIFICITY: Isoform 5 is expressed in keratinocytes, fibroblasts and melanocytes. {ECO:0000269|PubMed:11775060}.
Sequence
MNSVRAANRRPRRVSRPRPVQQQQQQPPQQPPPQPPQQQPPQQQPPPPPQQQQQQQPPPP
PPPPPPLPQERNNVGERDDDVPADMVAEESGPGAQNSPYQLRRKTLLPKRTACPTKNSME
GASTSTTENFGHRAKRARVSGKSQDLSAAPAEQYLQEKLPDEVVLKIFSYLLEQDLCRAA
CVCKRFSELANDPILWKRLYME
VFEYTRPMMHPEPGKFYQINPEEYEHPNPWKESFQQLY
KGAHVKPGFAEHFYSNPARYKGRENMLYYDTIEDALGGVQEAHFDGLIFVHSGIYTDEWI
YIESPITMIGAAPGKVADKVIIENTRDSTFVFMEGSEDAYVGYMTIRFNPDDKSAQHHNA
HHCLEITVNCSPIIDHCIIRSTCTVG
SAVCVSGQGACPTIKHCNISDCENVGLYITDHAQ
GIYEDNEISNNALAGIWVKNHGNPIIRRNHIHHGRDVGVFTFDHGMGYFESCNIHRNRIA
GFEVKAYANPTVVRCEIHHGQTGGIYVHEKGRGQFIENKIYANNFAGVWITSNSDPTIRG
NSIFNGNQGGVYIFGDGRGLIEGNDIYGNALAGIQIRTNSCPIVRHNKIHDGQHGGIYVH
EKGQGVIEENEVYSNTLAGVWVTTGSTPVLRRNRI
HSGKQVGVYFYDNGHGVLEDNDIYN
HMYSGVQIRTGSNPKIRRNKIWGGQNGGILVYNSGLGCIEDNEIFDNAMAGVWIKTDSNP
TLRRNKIHDGRDGGICIFNGGRGLLEENDIFRNAQAGVLISTNSHPILRKNRIFDGFAAG
IEITNHATATLEGNQIFNNRFGGLFLASGVNVTMKDNKIMNNQ
DAIEKAVSRGQCLYKIS
SYTSYPMHDFYRCHTCNTTDRNAICVNCIKKCHQGHDVEFIRHDRFFCDCGAGTLSNPCT
L
AGEPTHDTDTLYDSAPPIESNTLQHN
Sequence length 927
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Neddylation
Antigen processing: Ubiquitination & Proteasome degradation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities intellectual developmental disorder with dysmorphic facies and behavioral abnormalities rs1572764737, rs1572806589, rs1572785471, rs1572753822, rs1572764698, rs1553338592, rs1572776344, rs1553342109, rs1553334874, rs1553334863, rs1553342101 N/A
Obesity obesity rs1572820988 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes N/A N/A GWAS
Insomnia Insomnia N/A N/A GWAS
Mental retardation intellectual disability N/A N/A ClinVar
Oligodendroglioma Oligodendroglioma N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenoma Associate 29725252
Anxiety Associate 30679813
Ascending aortic aneurysm hypertelorism bifid uvula cleft palate and arterial tortuosity Associate 30057029
Attention Deficit Disorder with Hyperactivity Associate 30679813
Autism Spectrum Disorder Associate 30679813, 31838722
Body Dysmorphic Disorders Associate 30679813
Burkitt Lymphoma Associate 34472720
Carcinoma Hepatocellular Inhibit 32657545
Carcinoma Renal Cell Associate 31159774
Cleft Lip Associate 30057029