Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
607
Gene name Gene Name - the full gene name approved by the HGNC.
BCL9 transcription coactivator
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BCL9
Synonyms (NCBI Gene) Gene synonyms aliases
LGS
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q21.2
Summary Summary of gene provided in NCBI Entrez Gene.
BCL9 is associated with B-cell acute lymphoblastic leukemia. It may be a target of translocation in B-cell malignancies with abnormalities of 1q21. Its function is unknown. The overexpression of BCL9 may be of pathogenic significance in B-cell malignancie
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT027374 hsa-miR-101-3p Sequencing 20371350
MIRT027816 hsa-miR-98-5p Microarray 19088304
MIRT049671 hsa-miR-92a-3p CLASH 23622248
MIRT040481 hsa-miR-605-5p CLASH 23622248
MIRT052960 hsa-miR-30c-2-3p Immunoblot, Luciferase reporter assay, qRT-PCR 22024689
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003713 Function Transcription coactivator activity IEA
GO:0005515 Function Protein binding IPI 11955446, 16630820, 17052462, 17113272, 18498752, 21399610, 24981860
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm TAS
GO:0005737 Component Cytoplasm IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602597 1008 ENSG00000116128
Protein
UniProt ID O00512
Protein name B-cell CLL/lymphoma 9 protein (B-cell lymphoma 9 protein) (Bcl-9) (Protein legless homolog)
Protein function Involved in signal transduction through the Wnt pathway. Promotes beta-catenin's transcriptional activity (By similarity).
PDB 2GL7 , 2VP7 , 2VPB , 2VPD , 2VPE , 2VPG , 3SL9 , 8Y0P
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF11502 BCL9 350 388 B-cell lymphoma 9 protein Family
Tissue specificity TISSUE SPECIFICITY: Detected at low levels in thymus, prostate, testis, ovary and small intestine, and at lower levels in spleen, colon and blood.
Sequence
MHSSNPKVRSSPSGNTQSSPKSKQEVMVRPPTVMSPSGNPQLDSKFSNQGKQGGSASQSQ
PSPCDSKSGGHTPKALPGPGGSMGLKNGAGNGAKGKGKRERSISADSFDQRDPGTPNDDS
DIKECNSADHIKSQDSQHTPHSMTPSNATAPRSSTPSHGQTTATEPTPAQKTPAKVVYVF
STEMANKAAEAVLKGQVETIVSFHIQNISNNKTERSTAPLNTQISALRNDPKPLPQQPPA
PANQDQNSSQNTRLQPTPPIPAPAPKPAAPPRPLDRESPGVENKLIPSVGSPASSTPLPP
DGTGPNSTPNNRAVTPVSQGSNSSSADPKAPPPPPVSSGEPPTLGENPDGLSQEQLEHRE
RSLQTLRDIQRMLFPDEKEFTGAQSGGP
QQNPGVLDGPQKKPEGPIQAMMAQSQSLGKGP
GPRTDVGAPFGPQGHRDVPFSPDEMVPPSMNSQSGTIGPDHLDHMTPEQIAWLKLQQEFY
EEKRRKQEQVVVQQCSLQDMMVHQHGPRGVVRGPPPPYQMTPSEGWAPGGTEPFSDGINM
PHSLPPRGMAPHPNMPGSQMRLPGFAGMINSEMEGPNVPNPASRPGLSGVSWPDDVPKIP
DGRNFPPGQGIFSGPGRGERFPNPQGLSEEMFQQQLAEKQLGLPPGMAMEGIRPSMEMNR
MIPGSQRHMEPGNNPIFPRIPVEGPLSPSRGDFPKGIPPQMGPGRELEFGMVPSGMKGDV
NLNVNMGSNSQMIPQKMREAGAGPEEMLKLRPGGSDMLPAQQKMVPLPFGEHPQQEYGMG
PRPFLPMSQGPGSNSGLRNLREPIGPDQRTNSRLSHMPPLPLNPSSNPTSLNTAPPVQRG
LGRKPLDISVAGSQVHSPGINPLKSPTMHQVQSPMLGSPSGNLKSPQTPSQLAGMLAGPA
AAASIKSPPVLGSAAASPVHLKSPSLPAPSPGWTSSPKPPLQSPGIPPNHKAPLTMASPA
MLGNVESGGPPPPTASQPASVNIPGSLPSSTPYTMPPEPTLSQNPLSIMMSRMSKFAMPS
STPLYHDAIKTVASSDDDSPPARSPNLPSMNNMPGMGINTQNPRISGPNPVVPMPTLSPM
GMTQPLSHSNQMPSPNAVGPNIPPHGVPMGPGLMSHNPIMGHGSQEPPMVPQGRMGFPQG
FPPVQSPPQQVPFPHNGPSGGQGSFPGGMGFPGEGPLGRPSNLPQSSADAALCKPGGPGG
PDSFTVLGNSMPSVFTDPDLQEVIRPGATGIPEFDLSRIIPSEKPSQTLQYFPRGEVPGR
KQPQGPGPGFSHMQGMMGEQAPRMGLALPGMGGPGPVGTPDIPLGTAPSMPGHNPMRPPA
FLQQGMMGPHHRMMSPAQSTMPGQPTLMSNPAAAVGMIPGKDRGPAGLYTHPGPVGSPGM
MMSMQGMMGPQQNIMIPPQMRPRGMAADVGMGGFSQGPGNPGNMMF
Sequence length 1426
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Formation of the beta-catenin:TCF transactivating complex
Deactivation of the beta-catenin transactivating complex
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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
Congenital Heart Disease congenital heart disease N/A N/A GenCC
Diabetes Type 2 diabetes N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 35095769
Bipolar Disorder Associate 37894929
Breast Neoplasms Associate 31073027, 34452548, 36835467
Carcinoma Hepatocellular Associate 31440992, 35078970
Carcinoma Non Small Cell Lung Associate 30009824
Carcinoma Renal Cell Stimulate 40362354
Colonic Neoplasms Associate 19738061
Colorectal Neoplasms Associate 27121066, 31081087
Hand Foot Syndrome Associate 34270794
Heart Defects Congenital Associate 22318994