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Aliases for BCL9 Gene

Aliases for BCL9 Gene

  • B-Cell CLL/Lymphoma 9 2 3 5
  • B-Cell Lymphoma 9 Protein 3 4
  • Protein Legless Homolog 3 4
  • Bcl-9 3 4
  • B-Cell CLL/Lymphoma 9 Protein 3
  • LGS 3

External Ids for BCL9 Gene

Previous GeneCards Identifiers for BCL9 Gene

  • GC01P145227
  • GC01P143738
  • GC01P144357
  • GC01P144520
  • GC01P144237
  • GC01P145479
  • GC01P147013
  • GC01P120426

Summaries for BCL9 Gene

Entrez Gene Summary for BCL9 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 malignancies. [provided by RefSeq, Jul 2008]

GeneCards Summary for BCL9 Gene

BCL9 (B-Cell CLL/Lymphoma 9) is a Protein Coding gene. Diseases associated with BCL9 include Lymphoma and Skeletal Muscle Regeneration. Among its related pathways are Wnt Signaling Pathways: beta-Catenin-dependent Wnt Signaling and Wnt Signaling Pathway NetPath. GO annotations related to this gene include beta-catenin binding. An important paralog of this gene is BCL9L.

UniProtKB/Swiss-Prot for BCL9 Gene

  • Involved in signal transduction through the Wnt pathway. Promotes beta-catenins transcriptional activity (By similarity).

Gene Wiki entry for BCL9 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BCL9 Gene

Genomics for BCL9 Gene

Regulatory Elements for BCL9 Gene

Enhancers for BCL9 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F147538 1 ENCODE 35.5 -0.4 -391 5.8 PKNOX1 ARNT SIN3A FEZF1 ZNF2 YY1 ZNF302 ZNF416 ZNF548 FOS LOC647481 BCL9 ACP6 OR13Z3P OR13Z2P OR13Z1P LOC100130018 ENSG00000228626 ENSG00000235988 LOC100505824
GH01F147608 0.3 FANTOM5 20.6 +67.0 66952 0.2 BCL9 ACP6 CHD1L PRKAB2 GC01P147574
GH01F148262 0.2 ENCODE 13.7 +722.7 722692 2.7 PKNOX1 ARNT CREB3L1 ZFP64 SIN3A FEZF1 ZNF2 ZNF143 ZNF548 ZNF263 LOC647481 BCL9 ENSG00000227700 LOC101927468 ENSG00000272824 ACP6 LINC01731 TRQ-CTG4-1 RNU1-120P
GH01F147578 0.9 Ensembl ENCODE 11.9 +39.4 39417 4.4 HDGF ZNF133 RAD21 ZNF366 ZNF391 TSHZ1 ZEB2 KAT8 ZFP69B IKZF1 BCL9 ACP6 NBPF12 PFN1P8 GC01P147574
GH01F147586 0.6 Ensembl ENCODE 11.8 +45.6 45602 1.9 ELF3 TBP PKNOX1 RARA FOS CREM MIXL1 EGR2 KLF11 SP5 LOC647481 BCL9 NBPF12 GC01P147574 ACP6
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around BCL9 on UCSC Golden Path with GeneCards custom track

Promoters for BCL9 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000544386 499 2601 PKNOX1 ARNT SIN3A FEZF1 ZNF2 YY1 ZNF302 ZNF416 ZNF548 ZNF263

Genomic Location for BCL9 Gene

Chromosome:
1
Start:
147,541,401 bp from pter
End:
147,626,219 bp from pter
Size:
84,819 bases
Orientation:
Plus strand

Genomic View for BCL9 Gene

Genes around BCL9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BCL9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BCL9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BCL9 Gene

Proteins for BCL9 Gene

  • Protein details for BCL9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00512-BCL9_HUMAN
    Recommended name:
    B-cell CLL/lymphoma 9 protein
    Protein Accession:
    O00512
    Secondary Accessions:
    • Q5T489

    Protein attributes for BCL9 Gene

    Size:
    1426 amino acids
    Molecular mass:
    149290 Da
    Quaternary structure:
    • Binds to beta-catenin (CTNNB1), PYGO1 and PYGO2; the interaction with PYGO1 increases PYGO1 affinity to histone H3 methylated at Lys 4.
    SequenceCaution:
    • Sequence=CAA73942.1; Type=Frameshift; Positions=1391; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for BCL9 Gene

neXtProt entry for BCL9 Gene

Post-translational modifications for BCL9 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BCL9 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for BCL9 (Bcl-9)

No data available for DME Specific Peptides for BCL9 Gene

Domains & Families for BCL9 Gene

Protein Domains for BCL9 Gene

Suggested Antigen Peptide Sequences for BCL9 Gene

Graphical View of Domain Structure for InterPro Entry

O00512

UniProtKB/Swiss-Prot:

BCL9_HUMAN :
  • Belongs to the BCL9 family.
Family:
  • Belongs to the BCL9 family.
genes like me logo Genes that share domains with BCL9: view

No data available for Gene Families for BCL9 Gene

Function for BCL9 Gene

Molecular function for BCL9 Gene

GENATLAS Biochemistry:
gene coding for a large proline-rich protein with two transcripts,expressed in all tissues and a third expressed only in thymus,spleen,small intestine,involved in translocation t(1;14) and t(1;22)
UniProtKB/Swiss-Prot Function:
Involved in signal transduction through the Wnt pathway. Promotes beta-catenins transcriptional activity (By similarity).

Gene Ontology (GO) - Molecular Function for BCL9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11955446
GO:0008013 beta-catenin binding IEA --
genes like me logo Genes that share ontologies with BCL9: view
genes like me logo Genes that share phenotypes with BCL9: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BCL9 Gene

Localization for BCL9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BCL9 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BCL9 Gene COMPARTMENTS Subcellular localization image for BCL9 gene
Compartment Confidence
nucleus 4
cytosol 2

Gene Ontology (GO) - Cellular Components for BCL9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005801 cis-Golgi network IEA,IDA 23386608
genes like me logo Genes that share ontologies with BCL9: view

Pathways & Interactions for BCL9 Gene

genes like me logo Genes that share pathways with BCL9: view

SIGNOR curated interactions for BCL9 Gene

Activates:

Gene Ontology (GO) - Biological Process for BCL9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0014908 myotube differentiation involved in skeletal muscle regeneration IEA --
GO:0016055 Wnt signaling pathway IEA --
GO:0017015 NOT regulation of transforming growth factor beta receptor signaling pathway IMP 19328798
GO:0035019 somatic stem cell population maintenance IEA --
GO:0035914 skeletal muscle cell differentiation IEA --
genes like me logo Genes that share ontologies with BCL9: view

Transcripts for BCL9 Gene

Unigene Clusters for BCL9 Gene

B-cell CLL/lymphoma 9:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for BCL9 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11
SP1: -
SP2:
SP3: -

Relevant External Links for BCL9 Gene

GeneLoc Exon Structure for
BCL9
ECgene alternative splicing isoforms for
BCL9

Expression for BCL9 Gene

mRNA expression in normal human tissues for BCL9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for BCL9 Gene

This gene is overexpressed in Fetal Brain (33.3) and Heart (28.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BCL9 Gene



Protein tissue co-expression partners for BCL9 Gene

NURSA nuclear receptor signaling pathways regulating expression of BCL9 Gene:

BCL9

SOURCE GeneReport for Unigene cluster for BCL9 Gene:

Hs.415209

mRNA Expression by UniProt/SwissProt for BCL9 Gene:

O00512-BCL9_HUMAN
Tissue specificity: Detected at low levels in thymus, prostate, testis, ovary and small intestine, and at lower levels in spleen, colon and blood.
genes like me logo Genes that share expression patterns with BCL9: view

Primer Products

No data available for mRNA differential expression in normal tissues for BCL9 Gene

Orthologs for BCL9 Gene

This gene was present in the common ancestor of chordates.

Orthologs for BCL9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BCL9 34 35
  • 99.84 (n)
dog
(Canis familiaris)
Mammalia BCL9 34 35
  • 94.55 (n)
cow
(Bos Taurus)
Mammalia BCL9 34 35
  • 94.18 (n)
rat
(Rattus norvegicus)
Mammalia Bcl9 34
  • 93.08 (n)
mouse
(Mus musculus)
Mammalia Bcl9 34 16 35
  • 92.89 (n)
oppossum
(Monodelphis domestica)
Mammalia BCL9 35
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BCL9 35
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves BCL9 34 35
  • 81.79 (n)
lizard
(Anolis carolinensis)
Reptilia BCL9 35
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bcl9 34
  • 71.8 (n)
Str.18727 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.2426 34
zebrafish
(Danio rerio)
Actinopterygii bcl9 34 35
  • 64.15 (n)
Species where no ortholog for BCL9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BCL9 Gene

ENSEMBL:
Gene Tree for BCL9 (if available)
TreeFam:
Gene Tree for BCL9 (if available)

Paralogs for BCL9 Gene

Paralogs for BCL9 Gene

Pseudogenes.org Pseudogenes for BCL9 Gene

genes like me logo Genes that share paralogs with BCL9: view

Variants for BCL9 Gene

Sequence variations from dbSNP and Humsavar for BCL9 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1015235 -- 147,571,754(+) GGGTT(A/G)CCTCC intron-variant
rs1027423 -- 147,546,759(-) AGTCG(C/G)TATGA intron-variant
rs1027424 -- 147,546,591(-) CAGAG(C/T)TGGAA intron-variant
rs10465880 -- 147,597,790(+) TTAGC(C/G)TGCTT intron-variant
rs10465881 -- 147,595,529(+) CATCC(A/G)GAATT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BCL9 Gene

Variant ID Type Subtype PubMed ID
dgv183n106 CNV deletion 24896259
dgv327n100 CNV gain 25217958
dgv66e199 CNV deletion 23128226
esv2663751 CNV deletion 23128226
esv2761299 CNV gain+loss 21179565
esv3587441 CNV loss 21293372
esv3587442 CNV loss 21293372
esv3587443 CNV loss 21293372
nsv1003688 CNV gain 25217958
nsv1005055 CNV loss 25217958
nsv1076796 CNV deletion 25765185
nsv1077661 CNV deletion 25765185
nsv1132304 CNV duplication 24896259
nsv1136033 CNV deletion 24896259
nsv509457 CNV insertion 20534489
nsv510962 OTHER complex 20534489
nsv831414 CNV gain 17160897
nsv831426 CNV loss 17160897
nsv951831 CNV duplication 24416366

Variation tolerance for BCL9 Gene

Residual Variation Intolerance Score: 12.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.39; 85.51% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BCL9 Gene

Human Gene Mutation Database (HGMD)
BCL9
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BCL9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BCL9 Gene

Disorders for BCL9 Gene

MalaCards: The human disease database

(3) MalaCards diseases for BCL9 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
lymphoma
  • lymphoid cancer
skeletal muscle regeneration
  • nonaka myopathy
lymphoblastic leukemia
  • acute lymphocytic leukemia
- elite association - COSMIC cancer census association via MalaCards
Search BCL9 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

BCL9_HUMAN
  • Note=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. {ECO:0000269 PubMed:9490669}.

Genatlas disease for BCL9 Gene

B-cell CLL ,chronic lymphocytic leukemia with translocation t(1;14)(q21;q32),t(1;22)(q21;q11)

Relevant External Links for BCL9

Genetic Association Database (GAD)
BCL9
Human Genome Epidemiology (HuGE) Navigator
BCL9
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BCL9
genes like me logo Genes that share disorders with BCL9: view

Publications for BCL9 Gene

  1. Molecular cloning of translocation t(1;14)(q21;q32) defines a novel gene (BCL9) at chromosome 1q21. (PMID: 9490669) Willis T.G. … Dyer M.J.S. (Blood 1998) 2 3 4 22 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  4. Decoding of methylated histone H3 tail by the Pygo-BCL9 Wnt signaling complex. (PMID: 18498752) Fiedler M. … Bienz M. (Mol. Cell 2008) 3 4 64
  5. Cell-type-specific function of BCL9 involves a transcriptional activation domain that synergizes with beta-catenin. (PMID: 18347063) Sustmann C. … Grosschedl R. (Mol. Cell. Biol. 2008) 3 22 64

Products for BCL9 Gene

Sources for BCL9 Gene

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