Gene Gene information from NCBI Gene database.
Entrez ID 9184
Gene name BUB3 mitotic checkpoint protein
Gene symbol BUB3
Synonyms (NCBI Gene)
BUB3LhBUB3
Chromosome 10
Chromosome location 10q26.13
Summary This gene encodes a protein involved in spindle checkpoint function. The encoded protein contains four WD repeat domains and has sequence similarity with the yeast BUB3 protein. Alternate transcriptional splice variants, encoding different isoforms, have
miRNA miRNA information provided by mirtarbase database.
372
miRTarBase ID miRNA Experiments Reference
MIRT032111 hsa-let-7d-5p Sequencing 20371350
MIRT039843 hsa-miR-615-3p CLASH 23622248
MIRT039843 hsa-miR-615-3p CLASH 23622248
MIRT037378 hsa-miR-744-3p CLASH 23622248
MIRT055863 hsa-miR-548ac HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
GO ID Ontology Definition Evidence Reference
GO:0000775 Component Chromosome, centromeric region IEA
GO:0000776 Component Kinetochore IBA
GO:0000776 Component Kinetochore IDA 9660858
GO:0000776 Component Kinetochore IEA
GO:0005515 Function Protein binding IPI 9660858, 10198256, 11283619, 12762840, 15525512, 17289665, 19407811, 21566117, 21988832, 22000412, 22365833, 24462186, 24462187, 25383541, 25416956, 25852190, 25959826, 26496610, 32707033, 32814053, 33961781, 35271311
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603719 1151 ENSG00000154473
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O43684
Protein name Mitotic checkpoint protein BUB3
Protein function Has a dual function in spindle-assembly checkpoint signaling and in promoting the establishment of correct kinetochore-microtubule (K-MT) attachments. Promotes the formation of stable end-on bipolar attachments. Necessary for kinetochore localiz
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00400 WD40 4 43 WD domain, G-beta repeat Repeat
PF00400 WD40 88 124 WD domain, G-beta repeat Repeat
PF00400 WD40 215 262 WD domain, G-beta repeat Repeat
Sequence
MTGSNEFKLNQPPEDGISSVKFSPNTSQFLLVSSWDTSVRLYDVPANSMRLKYQHTGAVL
DCAFYDPTHAWSGGLDHQLKMHDLNTDQENLVGTHDAPIRCVEYCPEVNVMVTGSWDQTV
KLWD
PRTPCNAGTFSQPEKVYTLSVSGDRLIVGTAGRRVLVWDLRNMGYVQQRRESSLKY
QTRCIRAFPNKQGYVLSSIEGRVAVEYLDPSPEVQKKKYAFKCHRLKENNIEQIYPVNAI
SFHNIHNTFATGGSDGFVNIWD
PFNKKRLCQFHRYPTSIASLAFSNDGTTLAIASSYMYE
MDDTEHPEDGIFIRQVTDAETKPKSPCT
Sequence length 328
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cell cycle
Human T-cell leukemia virus 1 infection
  Inactivation of APC/C via direct inhibition of the APC/C complex
Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
Cdc20:Phospho-APC/C mediated degradation of Cyclin A
APC/C:Cdc20 mediated degradation of mitotic proteins
APC-Cdc20 mediated degradation of Nek2A
Separation of Sister Chromatids
Resolution of Sister Chromatid Cohesion
RHO GTPases Activate Formins
Mitotic Prometaphase
EML4 and NUDC in mitotic spindle formation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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)
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
BUB3-related disorder Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME Disgenet, GWAS catalog, Orphanet
Disgenet, GWAS catalog, Orphanet
Disgenet, GWAS catalog, Orphanet
★★☆☆☆
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
Adrenocortical Carcinoma Adrenocortical carcinoma Pubtator 30413320 Associate
★☆☆☆☆
Found in Text Mining only
Ambiguous Genitalia Ambiguous Genitalia HPO_DG
★☆☆☆☆
Found in Text Mining only
Aneuploidy Aneuploidy Pubtator 29448935, 33564066 Associate
★☆☆☆☆
Found in Text Mining only
Aortic coarctation Aortic Coarctation HPO_DG
★☆☆☆☆
Found in Text Mining only
Aortic Valve Insufficiency Aortic Valve Insufficiency HPO_DG
★☆☆☆☆
Found in Text Mining only
Atrial Septal Defects Atrial Septal Defect HPO_DG
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 11400114
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 24711138
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 35186236, 35493295 Associate
★☆☆☆☆
Found in Text Mining only
Cafe au lait spots, multiple Cafe-au-lait spot HPO_DG
★☆☆☆☆
Found in Text Mining only