Gene Gene information from NCBI Gene database.
Entrez ID 607
Gene name BCL9 transcription coactivator
Gene symbol BCL9
Synonyms (NCBI Gene)
LGS
Chromosome 1
Chromosome location 1q21.2
Summary 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.
253
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 ImmunoblotLuciferase reporter assayqRT-PCR 22024689
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602597 1008 ENSG00000116128
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
5
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
BCL9-related disorder Uncertain significance; Likely benign; Conflicting classifications of pathogenicity rs373321043, rs116866277, rs41295833, rs587603499, rs142428017 RCV003418814
RCV003901374
RCV003951675
RCV003959179
RCV003920491
Associations from Text MiningDisease 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