Gene Gene information from NCBI Gene database.
Entrez ID 23219
Gene name F-box protein 28
Gene symbol FBXO28
Synonyms (NCBI Gene)
CENP-30DEE100Fbx28
Chromosome 1
Chromosome location 1q42.11
Summary Members of the F-box protein family, such as FBXO28, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box pr
miRNA miRNA information provided by mirtarbase database.
547
miRTarBase ID miRNA Experiments Reference
MIRT019382 hsa-miR-148b-3p Microarray 17612493
MIRT020240 hsa-miR-130b-3p Sequencing 20371350
MIRT021854 hsa-miR-132-3p Microarray 17612493
MIRT024194 hsa-miR-221-3p Sequencing 20371350
MIRT025097 hsa-miR-181a-5p Sequencing 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7
GO ID Ontology Definition Evidence Reference
GO:0000209 Process Protein polyubiquitination IBA
GO:0000775 Component Chromosome, centromeric region IEA
GO:0000776 Component Kinetochore IDA 20813266
GO:0000776 Component Kinetochore IEA
GO:0005515 Function Protein binding IPI 16189514, 21516116, 22632967, 25416956, 27705803, 28514442, 32296183, 32814053, 33961781, 38225382
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609100 29046 ENSG00000143756
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NVF7
Protein name F-box only protein 28
Protein function Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00646 F-box 63 94 F-box domain Domain
Sequence
MAAAAEERMAEEGGGGQGDGGSSLASGSTQRQPPPPAPQHPQPGSQALPAPALAPDQLPQ
NNTLVALPIVAIENILSFMSYDEISQLRLVCKRMDLVCQRMLNQGFLKVERYHNLCQKQV
KAQLPRRESERRNHSLARHADILAAVETRLSLLNMTFMKYVDSNLCCFIPGKVIDEIYRV
LRYVNSTRAPQRAHEVLQELRDISSMAMEYFDEKIVPILKRKLPGSDVSGRLMGSPPVPG
PSAALTTMQLFSKQNPSRQEVTKLQQQVKTNGAGVTVLRREISELRTKVQEQQKQLQDQD
QKLLEQTQIIGEQNARLAELERKLREVMESAVGNSSGSGQNEESPRKRKKATEAIDSLRK
SKRLRNRK
Sequence length 368
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
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
Developmental and epileptic encephalopathy 100 Pathogenic; Likely pathogenic rs2102638530, rs2102604634, rs2102638590, rs2102638612, rs2102638631, rs2527209619, rs1553292987 RCV001844418
RCV001844419
RCV001844420
RCV001844421
RCV001844422
View all (2 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
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FBXO28-associated epileptic encephalopathy Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FBXO28-related developmental and epileptic encephalopathy 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
Brain Diseases Brain disease Pubtator 37761828 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 23776131, 28179588
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 23776131, 28179588 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 37596321 Inhibit
★☆☆☆☆
Found in Text Mining only
Carcinoma Pancreatic Ductal Pancreatic ductal carcinoma Pubtator 35046938 Stimulate
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Developmental disability Pubtator 37761828 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Diabetes BEFREE 29587369
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Diabetes Mellitus BEFREE 29587369
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus BEFREE 29587369
★☆☆☆☆
Found in Text Mining only
Global developmental delay Developmental Delay BEFREE 30160831
★☆☆☆☆
Found in Text Mining only