Aliases for BCL9L Gene

Aliases for BCL9L Gene

  • BCL9 Like 2 3 5
  • DLNB11 2 3 4
  • B-Cell CLL/Lymphoma 9-Like Protein 3 4
  • B-Cell Lymphoma 9-Like Protein 3 4
  • B Cell CLL/Lymphoma 9 Like 2 3
  • BCL9-Like Protein 3 4
  • Protein BCL9-2 3 4
  • B9L 2 3
  • Nuclear Co-Factor Of Beta-Catenin Signalling 3
  • BCL9-2 3
  • Bcl9-2 2
  • BCL9L 5

External Ids for BCL9L Gene

Previous GeneCards Identifiers for BCL9L Gene

  • GC11M118304
  • GC11M118272
  • GC11M118766
  • GC11M114706

Summaries for BCL9L Gene

GeneCards Summary for BCL9L Gene

BCL9L (BCL9 Like) is a Protein Coding gene. Diseases associated with BCL9L include Acinar Cell Cystadenocarcinoma. Among its related pathways are Signaling by GPCR and Signaling by Wnt. Gene Ontology (GO) annotations related to this gene include transcription coactivator activity and beta-catenin binding. An important paralog of this gene is BCL9.

UniProtKB/Swiss-Prot Summary for BCL9L Gene

  • Transcriptional regulator that acts as an activator. Promotes beta-catenin transcriptional activity. Plays a role in tumorigenesis. Enhances the neoplastic transforming activity of CTNNB1 (By similarity).

Additional gene information for BCL9L Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BCL9L Gene

Genomics for BCL9L Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for BCL9L Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BCL9L on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BCL9L

Top Transcription factor binding sites by QIAGEN in the BCL9L gene promoter:
  • AP-2alpha
  • c-Ets-1
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • E47
  • Hand1

Genomic Locations for BCL9L Gene

Genomic Locations for BCL9L Gene
chr11:118,893,875-118,926,071
(GRCh38/hg38)
Size:
32,197 bases
Orientation:
Minus strand
chr11:118,764,584-118,796,317
(GRCh37/hg19)
Size:
31,734 bases
Orientation:
Minus strand

Genomic View for BCL9L Gene

Genes around BCL9L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BCL9L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BCL9L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BCL9L Gene

Proteins for BCL9L Gene

  • Protein details for BCL9L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86UU0-BCL9L_HUMAN
    Recommended name:
    B-cell CLL/lymphoma 9-like protein
    Protein Accession:
    Q86UU0
    Secondary Accessions:
    • A1A4C1
    • Q67FY1
    • Q6ZWJ0
    • Q6ZWK2

    Protein attributes for BCL9L Gene

    Size:
    1499 amino acids
    Molecular mass:
    157129 Da
    Quaternary structure:
    • Found in a complex with CDC73; CTNNB1 and PYGO1. Interacts with CTNNB1.
    SequenceCaution:
    • Sequence=AAH33257.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAC85500.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAC85512.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for BCL9L Gene

    Alternative splice isoforms for BCL9L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BCL9L Gene

Post-translational modifications for BCL9L Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for BCL9L Gene

Domains & Families for BCL9L Gene

Gene Families for BCL9L Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

Protein Domains for BCL9L Gene

Suggested Antigen Peptide Sequences for BCL9L Gene

GenScript: Design optimal peptide antigens:
  • Protein BCL9-2 (BCL9L_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86UU0

UniProtKB/Swiss-Prot:

BCL9L_HUMAN :
  • Tne C-terminal domain is important for its transactivation activity.
  • Belongs to the BCL9 family.
Domain:
  • Tne C-terminal domain is important for its transactivation activity.
Family:
  • Belongs to the BCL9 family.
genes like me logo Genes that share domains with BCL9L: view

Function for BCL9L Gene

Molecular function for BCL9L Gene

UniProtKB/Swiss-Prot Function:
Transcriptional regulator that acts as an activator. Promotes beta-catenin transcriptional activity. Plays a role in tumorigenesis. Enhances the neoplastic transforming activity of CTNNB1 (By similarity).

Phenotypes From GWAS Catalog for BCL9L Gene

Gene Ontology (GO) - Molecular Function for BCL9L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003713 transcription coactivator activity IEA,NAS 19328798
GO:0008013 beta-catenin binding IEA,IDA 15574752
genes like me logo Genes that share ontologies with BCL9L: view
genes like me logo Genes that share phenotypes with BCL9L: view

Animal Model Products

CRISPR Products

miRNA for BCL9L Gene

miRTarBase miRNAs that target BCL9L

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BCL9L

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BCL9L Gene

Localization for BCL9L Gene

Subcellular locations from UniProtKB/Swiss-Prot for BCL9L Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BCL9L gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for BCL9L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 15574752
GO:0005654 nucleoplasm IDA,TAS --
GO:0005730 nucleolus IDA --
GO:1990907 beta-catenin-TCF complex IBA,IDA 28296634
genes like me logo Genes that share ontologies with BCL9L: view

Pathways & Interactions for BCL9L Gene

genes like me logo Genes that share pathways with BCL9L: view

Pathways by source for BCL9L Gene

Gene Ontology (GO) - Biological Process for BCL9L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010718 positive regulation of epithelial to mesenchymal transition IMP 19328798
GO:0022604 regulation of cell morphogenesis IMP 19328798
GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway IBA,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 BCL9L: view

No data available for SIGNOR curated interactions for BCL9L Gene

Drugs & Compounds for BCL9L Gene

No Compound Related Data Available

Transcripts for BCL9L Gene

mRNA/cDNA for BCL9L Gene

3 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BCL9L

Alternative Splicing Database (ASD) splice patterns (SP) for BCL9L Gene

No ASD Table

Relevant External Links for BCL9L Gene

GeneLoc Exon Structure for
BCL9L

Expression for BCL9L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BCL9L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for BCL9L Gene

This gene is overexpressed in Blymphocyte (28.2), Cervix (12.4), Frontal cortex (8.3), and Fetal gut (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BCL9L Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BCL9L

SOURCE GeneReport for Unigene cluster for BCL9L Gene:

Hs.414740

mRNA Expression by UniProt/SwissProt for BCL9L Gene:

Q86UU0-BCL9L_HUMAN
Tissue specificity: Expressed in breast, ductal and invasive ductal carcinomas of the breast, sporadic colorectal adenomas and carcinomas (at protein level). Expressed in fetal brain. Expressed in lung, amygdala, eye, prostate, pancreatic and prostate cancers, head and neck tumors and embryonal tumor.

Evidence on tissue expression from TISSUES for BCL9L Gene

  • Nervous system(4.4)
  • Liver(4.4)
  • Adrenal gland(3.2)
  • Intestine(2.7)
  • Muscle(2.5)
  • Lung(2.2)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with BCL9L: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for BCL9L Gene

Orthologs for BCL9L Gene

This gene was present in the common ancestor of chordates.

Orthologs for BCL9L Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia BCL9L 30 31
  • 99.32 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia BCL9L 30 31
  • 92.22 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia BCL9L 30 31
  • 91.84 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Bcl9l 30 17 31
  • 89.11 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Bcl9l 30
  • 88.89 (n)
Oppossum
(Monodelphis domestica)
Mammalia BCL9L 31
  • 78 (a)
OneToOne
Chicken
(Gallus gallus)
Aves BCL9L 30 31
  • 72.74 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia BCL9L 31
  • 62 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia bcl9l 30
  • 59.47 (n)
Zebrafish
(Danio rerio)
Actinopterygii bcl9l 30 31
  • 57.01 (n)
OneToOne
Species where no ortholog for BCL9L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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 BCL9L Gene

ENSEMBL:
Gene Tree for BCL9L (if available)
TreeFam:
Gene Tree for BCL9L (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BCL9L: view image

Paralogs for BCL9L Gene

Paralogs for BCL9L Gene

genes like me logo Genes that share paralogs with BCL9L: view

Variants for BCL9L Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BCL9L Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
714057 Benign: not provided 118,903,056(-) C/T SYNONYMOUS_VARIANT
725608 Benign: not provided 118,901,309(-) G/A MISSENSE_VARIANT
731760 Benign: not provided 118,898,880(-) G/A SYNONYMOUS_VARIANT
736993 Benign: not provided 118,902,432(-) T/A SYNONYMOUS_VARIANT
741786 Likely Benign: not provided 118,899,945(-) G/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for BCL9L Gene

Structural Variations from Database of Genomic Variants (DGV) for BCL9L Gene

Variant ID Type Subtype PubMed ID
dgv732n106 CNV deletion 24896259
nsv952743 CNV deletion 24416366

Variation tolerance for BCL9L Gene

Residual Variation Intolerance Score: 2.43% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.79; 73.63% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BCL9L Gene

Human Gene Mutation Database (HGMD)
BCL9L
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BCL9L

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BCL9L Gene

Disorders for BCL9L Gene

MalaCards: The human disease database

(1) MalaCards diseases for BCL9L Gene - From: DISEASES

Disorder Aliases PubMed IDs
acinar cell cystadenocarcinoma
  • pancreatic acinar cell cystadenocarcinoma
- elite association - COSMIC cancer census association via MalaCards
Search BCL9L in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BCL9L

genes like me logo Genes that share disorders with BCL9L: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BCL9L Gene

Publications for BCL9L Gene

  1. Identification and characterization of human BCL9L gene and mouse Bcl9l gene in silico. (PMID: 12964048) Katoh M … Katoh M (International journal of molecular medicine 2003) 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 (Mechanisms of development 2007) 3 4 23
  3. Crystal structure of a beta-catenin/BCL9/Tcf4 complex. (PMID: 17052462) Sampietro J … Xu W (Molecular cell 2006) 3 4
  4. Essential role of BCL9-2 in the switch between beta-catenin's adhesive and transcriptional functions. (PMID: 15371335) Brembeck FH … Birchmeier W (Genes & development 2004) 3 4
  5. Role of a BCL9-related beta-catenin-binding protein, B9L, in tumorigenesis induced by aberrant activation of Wnt signaling. (PMID: 15574752) Adachi S … Akiyama T (Cancer research 2004) 2 3

Products for BCL9L Gene

Sources for BCL9L Gene