Gene content    
BCL9 ( by HUGO)
B-Cell CLL/Lymphoma 9
Other
B-Cell CLL/Lymphoma 9
Protein Legless Homolog
B-Cell Lymphoma 9 Protein
LGS
B-Cell CLL/Lymphoma 9 Protein
bcl-9
Bcl-9
NCBI: 1q21    Ensembl: 1q21.2
BCL9_HUMANSize: 1426 amino acidsMass: 149290 Da

  • Subunit: Binds to beta-catenin (CTNNB1), PYGO1 and PYGO2; the interaction with PYGO1 increases PYGO1 affinity to histone H3 methylated at 'Lys 4' Caution: It is uncertain whether Met-1 or Met-27 is the initiator Sequence caution: Sequence=CAA73942.1; Type=Frameshift; Positions=1391; Selected PDB 3D structures from [IMAGE] and Proteopedia [IMAGE] for BCL9 (see all 7): 2GL7 (3D) [IMAGE] 2VP7 (3D) [IMAGE] 2VPB (3D) [IMAGE] 2VPD (3D) [IMAGE] 2VPE (3D) [IMAGE] 2VPG (3D) [IMAGE]
  • Tissue specificity: Detected at low levels in thymus, prostate, testis, ovary and small intestine, and at lower levels in spleen, colon and blood [IMAGE] Pathway & Disease-focused RT2 Profiler PCR Arrays including BCL9: WNT Signaling Pathway in human mouse rat Stem Cell Sign
  • Function:
    UniProtKB/Swiss-Prot Summary: BCL9_HUMAN, O00512 Function: Involved in signal transduction through the Wnt pathway. Promotes beta-catenin's transcriptional activity (By similarity)
  • Similarity:
    Belongs to the BCL9 family [IMAGE]

    • Gene Ontology    
    Type Term Evidence Source Pub
    Biological Process NOT regulation of transforming growth factor beta receptor signaling pathway IMP GOA 19328798
    Molecular Function protein binding IPI GOA 11955446

    Disorder & Mutation    
    Source Disease
    GenatlasB-cell CLL ,chronic lymphocytic leukemia with translocation t(1;14)(q21;q32),t(1;22)(q21;q11)
    SWISS-PROTNote=A chromosomal aberration involving BCL9 is found in a patient with precusor B-cell acute lymphoblastic leukemia (ALL). Translocation t(1;14)(q21;q32). This translocation leaves the coding region intact, but may have pathogenic effects due to alterations in the expression level of BCL9. Several cases of translocations within the 3'-UTR of BCL9 have been found in B-cell malignancies

    BCL9 cross reference    
    PubMed OMIM Entrez Gene NCKU SNP Nucleotide UniProt Genome Data Viewer HomoloGene