BCL9L BCL9 like [Homo sapiens (human)] - Gene

Summary

Official Symbol: BCL9Lprovided by HGNC
Official Full Name: BCL9 likeprovided by HGNC
Primary source: HGNC:HGNC:23688
See related: Ensembl:ENSG00000186174 MIM:609004; AllianceGenome:HGNC:23688
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: B9L; BCL9-2; DLNB11
Summary: Enables beta-catenin binding activity. Involved in several processes, including negative regulation of transforming growth factor beta receptor signaling pathway; positive regulation of epithelial to mesenchymal transition; and positive regulation of transcription by RNA polymerase II. Located in nucleolus and nucleoplasm. Part of beta-catenin-TCF complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in placenta (RPKM 7.2), appendix (RPKM 7.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q23.3

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (118896136..118925926, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (118916371..118946170, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (118766845..118796635, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Wnt/beta-Catenin Signalling and Its Cofactor BCL9L Have an Oncogenic Effect in Bladder Cancer Cells.
Title: Wnt/β-Catenin Signalling and Its Cofactor BCL9L Have an Oncogenic Effect in Bladder Cancer Cells.
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.
Type I collagen promotes tumor progression of integrin beta1 positive gastric cancer through a BCL9L/beta-catenin signaling pathway.
Title: Type I collagen promotes tumor progression of integrin β1 positive gastric cancer through a BCL9L/β-catenin signaling pathway.
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.
Dual-luciferase reporter confirmed that BCL9L is the target gene of both miR-22 and miR-214.
Title: miR-22 and miR-214 targeting BCL9L inhibit proliferation, metastasis, and epithelial-mesenchymal transition by down-regulating Wnt signaling in colon cancer.
we identify BCL9L as a novel regulator of TGF-beta-induced EMT in pancreatic cancer.
Title: Role of BCL9L in transforming growth factor-β (TGF-β)-induced epithelial-to-mesenchymal-transition (EMT) and metastasis of pancreatic cancer.
BCL9L dysfunction contributes to aneuploidy tolerance in both TP53-WT and mutant cells by reducing basal caspase-2 levels and preventing cleavage of MDM2 and BID.
Title: BCL9L Dysfunction Impairs Caspase-2 Expression Permitting Aneuploidy Tolerance in Colorectal Cancer.
The inhibition of the transcriptional activity of BCL9-2 by WWOX and HDAC3 constitutes a new molecular mechanism and provides new insight for a broad range of cancers.
Title: The Tumor-Suppressor WWOX and HDAC3 Inhibit the Transcriptional Activity of the β-Catenin Coactivator BCL9-2 in Breast Cancer Cells.
BCL9-2 induces ER positive breast cancers in vivo, regulates ER expression by a novel ss-catenin independent mechanism in breast cancer cells.
Title: The BCL9-2 proto-oncogene governs estrogen receptor alpha expression in breast tumorigenesis.
Data show that beta-catenin/BCL9-Like (BCL9L)/T-cell factor 4 (TCF4) signalling directly targets the GCM1/syncytin pathway and thereby regulates the fusion of human choriocarcinoma cells.
Title: Identification of a link between Wnt/β-catenin signalling and the cell fusion pathway.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SGC32303 (e-PCR)
- UniSTS:99842

D11S795 (e-PCR)
- UniSTS:12813

Bcl9l (e-PCR), detects polymorphism
- UniSTS:498745

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables beta-catenin binding	IBA Inferred from Biological aspect of Ancestor more info
enables beta-catenin binding	IDA Inferred from Direct Assay more info	PubMed
enables transcription coactivator activity	NAS Non-traceable Author Statement more info	PubMed

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 negative regulation of transforming growth factor beta receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of transforming growth factor beta receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of epithelial to mesenchymal transition	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cell morphogenesis	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
located_in fibrillar center	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IC Inferred by Curator more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: B-cell CLL/lymphoma 9-like protein

Names: B cell CLL/lymphoma 9 like; B-cell lymphoma 9-like protein; BCL9-like protein; nuclear co-factor of beta-catenin signalling; protein BCL9-2

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.

mRNA and Protein(s)

NM_001378213.1 → NP_001365142.1 B-cell CLL/lymphoma 9-like protein isoform a

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 2 both encode the same isoform (a).

Source sequence(s)

AP004609

Consensus CDS

CCDS8403.1

UniProtKB/Swiss-Prot

A1A4C1, Q67FY1, Q6ZWJ0, Q6ZWK2, Q86UU0

Related

ENSP00000507778.1, ENST00000683865.1

Conserved Domains (2) summary

PHA03247
Location:946 → 1378

PHA03247; large tegument protein UL36; Provisional

pfam11502
Location:398 → 432

BCL9; B-cell lymphoma 9 protein
NM_001378214.1 → NP_001365143.1 B-cell CLL/lymphoma 9-like protein isoform b

Status: VALIDATED

Source sequence(s)

AP004609

Consensus CDS

CCDS91603.1

UniProtKB/TrEMBL

A0A087WZX0

Conserved Domains (2) summary

PHA03247
Location:909 → 1341

PHA03247; large tegument protein UL36; Provisional

pfam11502
Location:361 → 395

BCL9; B-cell lymphoma 9 protein
NM_182557.4 → NP_872363.1 B-cell CLL/lymphoma 9-like protein isoform a

See identical proteins and their annotated locations for NP_872363.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same isoform (a).

Source sequence(s)

AP004609

Consensus CDS

CCDS8403.1

UniProtKB/Swiss-Prot

A1A4C1, Q67FY1, Q6ZWJ0, Q6ZWK2, Q86UU0

Related

ENSP00000335320.3, ENST00000334801.7

Conserved Domains (2) summary

PHA03247
Location:946 → 1378

PHA03247; large tegument protein UL36; Provisional

pfam11502
Location:398 → 432

BCL9; B-cell lymphoma 9 protein

RNA

NR_165445.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AP004609

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

118896136..118925926 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005271513.4 → XP_005271570.1 B-cell CLL/lymphoma 9-like protein isoform X4

See identical proteins and their annotated locations for XP_005271570.1

UniProtKB/TrEMBL

A0A087WZX0

Related

ENSP00000482938.1, ENST00000526143.2

Conserved Domains (2) summary

PHA03247
Location:909 → 1341

PHA03247; large tegument protein UL36; Provisional

pfam11502
Location:361 → 395

BCL9; B-cell lymphoma 9 protein
XM_006718815.4 → XP_006718878.1 B-cell CLL/lymphoma 9-like protein isoform X3

See identical proteins and their annotated locations for XP_006718878.1

UniProtKB/Swiss-Prot

A1A4C1, Q67FY1, Q6ZWJ0, Q6ZWK2, Q86UU0

Conserved Domains (2) summary

PHA03247
Location:946 → 1378

PHA03247; large tegument protein UL36; Provisional

pfam11502
Location:398 → 432

BCL9; B-cell lymphoma 9 protein
XM_047426800.1 → XP_047282756.1 B-cell CLL/lymphoma 9-like protein isoform X1
XM_011542756.3 → XP_011541058.1 B-cell CLL/lymphoma 9-like protein isoform X2

Conserved Domains (1) summary

pfam11502
Location:413 → 447

BCL9; B-cell lymphoma 9 protein

Alternate T2T-CHM13v2.0

Genomic

NC_060935.1 Alternate T2T-CHM13v2.0

Range

118916371..118946170 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054368475.1 → XP_054224450.1 B-cell CLL/lymphoma 9-like protein isoform X4

UniProtKB/TrEMBL

A0A087WZX0
XM_054368474.1 → XP_054224449.1 B-cell CLL/lymphoma 9-like protein isoform X3

UniProtKB/Swiss-Prot

A1A4C1, Q67FY1, Q6ZWJ0, Q6ZWK2, Q86UU0
XM_054368472.1 → XP_054224447.1 B-cell CLL/lymphoma 9-like protein isoform X1
XM_054368473.1 → XP_054224448.1 B-cell CLL/lymphoma 9-like protein isoform X2