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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
  • 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 skeletal muscle regeneration and lymphoma. Among its related pathways are Signaling by GPCR and Regulation of Wnt-mediated beta catenin signaling and target gene transcription. 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

Promoters for BCL9 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around BCL9 on UCSC Golden Path with GeneCards custom track

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

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:
REFSEQ proteins:

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

InterPro:
ProtoNet:

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

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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:0005737 cytoplasm IEA --
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:0035019 somatic stem cell population maintenance IEA --
GO:0060070 canonical Wnt signaling pathway IEA --
GO:1904837 beta-catenin-TCF complex assembly TAS --
genes like me logo Genes that share ontologies with BCL9: view

Drugs & Compounds for BCL9 Gene

No Compound Related Data Available

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

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, 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 expression patterns with BCL9: view

Protein tissue co-expression partners for BCL9 Gene

Primer Products

In Situ Assay 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
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
chimpanzee
(Pan troglodytes)
Mammalia BCL9 35
  • 99.84 (n)
  • 99.79 (a)
BCL9 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bcl9 35
  • 93.08 (n)
  • 95.44 (a)
oppossum
(Monodelphis domestica)
Mammalia BCL9 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BCL9 36
  • 82 (a)
OneToOne
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
tropical clawed frog
(Silurana tropicalis)
Amphibia bcl9 35
  • 71.8 (n)
  • 74.84 (a)
Str.18727 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.2426 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
rs3820129 - 147,620,166(-) CCCAG(A/G)CTCCA reference, missense
rs34002844 - 147,620,500(+) ATGGT(C/G/T)TGGGG reference, missense
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(C/T)ttatt 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

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

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

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
skeletal muscle regeneration
  • nonaka myopathy
lymphoma
  • lymphoid cancer
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 23 67
  2. 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
  3. 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
  4. LEF1 and B9L shield I^-catenin from inactivation by Axin, desensitizing colorectal cancer cells to tankyrase inhibitors. (PMID: 24419084) de la Roche M. … Bienz M. (Cancer Res. 2014) 3
  5. Characterizing WW domain interactions of tumor suppressor WWOX reveals its association with multiprotein networks. (PMID: 24550385) Abu-Odeh M. … Aqeilan R.I. (J. Biol. Chem. 2014) 3

Products for BCL9 Gene

Sources for BCL9 Gene

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