BCL9 BCL9 transcription coactivator [Homo sapiens (human)] - Gene

Summary

Official Symbol: BCL9provided by HGNC
Official Full Name: BCL9 transcription coactivatorprovided by HGNC
Primary source: HGNC:HGNC:1008
See related: Ensembl:ENSG00000116128 MIM:602597; AllianceGenome:HGNC:1008
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: LGS
Summary: 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]
Expression: Ubiquitous expression in endometrium (RPKM 9.5), ovary (RPKM 8.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q21.2

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (147541501..147626216)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (147181850..147266601, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (147013271..147098017)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Prognostic and survival impact of BCL9 and RPS6KB1 copy number variation detected from circulating free DNA in hepatocellular carcinoma.
Title: Prognostic and survival impact of BCL9 and RPS6KB1 copy number variation detected from circulating free DNA in hepatocellular carcinoma.
Hypoxia-inducible factor 1alpha induces osteo/odontoblast differentiation of human dental pulp stem cells via Wnt/beta-catenin transcriptional cofactor BCL9.
Title: Hypoxia-inducible factor 1α induces osteo/odontoblast differentiation of human dental pulp stem cells via Wnt/β-catenin transcriptional cofactor BCL9.
The interactions of Bcl9/Bcl9L with beta-catenin and Pygopus promote breast cancer growth, invasion, and metastasis.
Title: The interactions of Bcl9/Bcl9L with β-catenin and Pygopus promote breast cancer growth, invasion, and metastasis.
Evidence for frequent concurrent DCUN1D1, FGFR1, BCL9 gene copy number amplification in squamous cell lung cancer.
Title: Evidence for frequent concurrent DCUN1D1, FGFR1, BCL9 gene copy number amplification in squamous cell lung cancer.
BCL9/BCL9L promotes tumorigenicity through immune-dependent and independent mechanisms in triple negative breast cancer.
Title: BCL9/BCL9L promotes tumorigenicity through immune-dependent and independent mechanisms in triple negative breast cancer.
LncRNA NCK1-AS1 exerts oncogenic property in gastric cancer by targeting the miR-22-3p/BCL9 axis to activate the Wnt/beta-catenin signaling.
Title: LncRNA NCK1-AS1 exerts oncogenic property in gastric cancer by targeting the miR-22-3p/BCL9 axis to activate the Wnt/β-catenin signaling.
miR-140-3p inhibits colorectal cancer progression and its liver metastasis by targeting BCL9 and BCL2.
Title: miR-140-3p inhibits colorectal cancer progression and its liver metastasis by targeting BCL9 and BCL2.
MiR-30c exerts tumor suppressive functions in colorectal carcinoma by directly targeting BCL9.
Title: MiR-30c exerts tumor suppressive functions in colorectal carcinoma by directly targeting BCL9.
In response to spontaneous calcium transients or cellular stress, BCL9 is recruited adjacent to the interchromosomal regions, where it stabilizes the mRNA of calcium signaling and neural associated genes by interacting with paraspeckle proteins.
Title: BCL9 provides multi-cellular communication properties in colorectal cancer by interacting with paraspeckle proteins.
Investigated targeting the protein interactions of catenin beta 1 and B-cell lymphoma 9 protein (BCL9) binding using peptides designed by peptidomimetic drug design.
Title: Inhibition of β-catenin/B cell lymphoma 9 protein-protein interaction using α-helix-mimicking sulfono-γ-AApeptide inhibitors.

Submit: New GeneRIF Correction See all GeneRIFs (43)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients. EBI GWAS Catalog EBI GWAS CatalogPubMed
BCL9 and C9orf5 are associated with negative symptoms in schizophrenia: meta-analysis of two genome-wide association studies. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of B-cell CLL/lymphoma 9 (BCL9) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

BCL9 (e-PCR)
- UniSTS:503810

AL009676 (e-PCR)
- UniSTS:12807

BCL9_52 (e-PCR)
- UniSTS:277032

RH41927 (e-PCR)
- UniSTS:92205

RH119628 (e-PCR)
- UniSTS:133946

SHGC-143527 (e-PCR)
- UniSTS:171942

MARC_1017-1018:991929864:1 (e-PCR)
- UniSTS:230828

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables beta-catenin binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription coactivator activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in canonical Wnt signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in myoblast differentiation	IEA Inferred from Electronic Annotation more info
involved_in myotube differentiation involved in skeletal muscle regeneration	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
NOT involved_in regulation of transforming growth factor beta receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skeletal muscle cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in somatic stem cell population maintenance	IEA Inferred from Electronic Annotation more info
involved_in transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of beta-catenin-TCF complex	IBA Inferred from Biological aspect of Ancestor more info
part_of beta-catenin-TCF complex	IDA Inferred from Direct Assay more info	PubMed
part_of beta-catenin-TCF complex	IPI Inferred from Physical Interaction more info	PubMed
located_in cis-Golgi network	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in sarcoplasm	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: B-cell CLL/lymphoma 9 protein

Names: B cell CLL/lymphoma 9; B-cell lymphoma 9 protein; bcl-9; protein legless homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.