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Aliases for BCL9 Gene

Aliases for BCL9 Gene

  • B-Cell CLL/Lymphoma 9 2 3
  • 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

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 lymphoblastic leukemia. Among its related pathways are Regulation of Wnt-mediated beta catenin signaling and target gene transcription and Wnt signaling pathway (KEGG). 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

Genomic Location for BCL9 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BCL9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BCL9 Gene

Regulatory Elements 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

Proteomics data for BCL9 Gene at MOPED

Post-translational modifications for BCL9 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BCL9 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for BCL9 Gene

Domains for BCL9 Gene

Protein Domains for BCL9 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BCL9 Gene

Graphical View of Domain Structure for InterPro Entry

O00512

UniProtKB/Swiss-Prot:

BCL9_HUMAN
Family:
  • Belongs to the BCL9 family.:
    • O00512
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

Phenotypes for BCL9 Gene

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

miRNA for BCL9 Gene

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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 3
cytosol 2

Gene Ontology (GO) - Cellular Components for BCL9 Gene

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

Pathways for BCL9 Gene

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

Pathways by source for BCL9 Gene

1 R&D Systems pathway for BCL9 Gene
1 Qiagen pathway for BCL9 Gene

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:0017015 NOT regulation of transforming growth factor beta receptor signaling pathway IMP 19328798
GO:0035019 somatic stem cell maintenance IEA --
GO:0035914 skeletal muscle cell differentiation IEA --
GO:0045944 positive regulation of transcription from RNA polymerase II promoter 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:

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

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for BCL9 Gene

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 expressions with BCL9: view

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 35
  • 99.84 (n)
  • 99.79 (a)
BCL9 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BCL9 35
  • 94.18 (n)
  • 96.98 (a)
BCL9 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BCL9 35
  • 94.55 (n)
  • 97.34 (a)
BCL9 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bcl9 35
  • 92.89 (n)
  • 95.37 (a)
Bcl9 16
Bcl9 36
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BCL9 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BCL9 36
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bcl9 35
  • 93.08 (n)
  • 95.44 (a)
chicken
(Gallus gallus)
Aves BCL9 35
  • 81.79 (n)
  • 87.46 (a)
BCL9 36
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BCL9 36
  • 84 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.2426 35
tropical clawed frog
(Silurana tropicalis)
Amphibia bcl9 35
  • 71.8 (n)
  • 74.84 (a)
Str.18727 35
zebrafish
(Danio rerio)
Actinopterygii bcl9 35
  • 64.15 (n)
  • 64.15 (a)
bcl9 36
  • 53 (a)
OneToOne
Species with no ortholog for BCL9:
  • 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 MAF
rs583583 -- 147,611,315(-) GGTGA(A/G)AAAGG intron-variant
rs593068 -- 147,572,131(-) tcgag(C/T)agctg intron-variant
rs594132 -- 147,542,066(-) GAGAA(G/T)GCACA intron-variant
rs594206 -- 147,548,685(-) AACTG(A/C/G/T)ttatt intron-variant
rs597577 -- 147,617,106(-) GGAAT(A/G)TGAAA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv7181 OTHER Inversion 18451855
nsv831414 CNV Gain 17160897
nsv872266 CNV Gain 21882294
esv2663751 CNV Deletion 23128226
nsv831426 CNV Loss 17160897

Relevant External Links for BCL9 Gene

HapMap Linkage Disequilibrium report
BCL9
Human Gene Mutation Database (HGMD)
BCL9

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

Disorders for BCL9 Gene

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.

(1) MalaCards Diseases for BCL9 Gene

Search for BCL9 Gene in MalaCards »

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
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 23
  2. BCL9-2 binds Arm/beta-catenin in a Tyr142-independent manner and requires Pygopus for its function in Wg/Wnt signaling. (PMID: 17113272) Hoffmans R. … Basler K. (Mech. Dev. 2007) 3 23
  3. 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 23
  4. Crystal structure of a beta-catenin/BCL9/Tcf4 complex. (PMID: 17052462) Sampietro J. … Xu W. (Mol. Cell 2006) 3 4
  5. Wnt/wingless signaling requires BCL9/legless-mediated recruitment of pygopus to the nuclear beta-catenin-TCF complex. (PMID: 11955446) Kramps T. … Basler K. (Cell 2002) 3 4

Products for BCL9 Gene

Sources for BCL9 Gene

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