BCL9L - BCL9 like Gene

Homo sapiens

Also known as B9L; BCL9-2; DLNB11

Gene ID: 283149 | Gene type: protein coding

About BCL9L

Cytogenetic location: 11q23.3 Genomic coordinates (GRCh38): 11:118,896,136-118,925,926 (from NCBI)

This gene has 5 transcripts (splice variants), 192 orthologues, 1 paralogue and is associated with 82 phenotypes. Ubiquitous expression in placenta (RPKM 7.2), appendix (RPKM 7.1) and 25 other tissues.

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]

BCL9L Products(3)

mRNA	Protein	Name
NM_001378213.1	NP_001365142.1	B-cell CLL/lymphoma 9-like protein isoform a
NM_001378214.1	NP_001365143.1	B-cell CLL/lymphoma 9-like protein isoform b
NM_182557.4	NP_872363.1	B-cell CLL/lymphoma 9-like protein isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables beta-catenin binding	IDA IDA: Inferred from direct assay	15574752	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in negative regulation of transforming growth factor beta receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	19328798	GOA
involved in positive regulation of epithelial to mesenchymal transition	IMP IMP: Inferred from mutant phenotype	19328798	GOA
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	19328798	GOA
involved in regulation of cell morphogenesis	IMP IMP: Inferred from mutant phenotype	19328798	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of beta-catenin-TCF complex	IDA IDA: Inferred from direct assay	28296634	GOA
located in nucleus	IDA IDA: Inferred from direct assay	15574752	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BCL9L Protein Structure

BCL9

0
300
600
900
1200
1499 a.a.

Protein Preferred Names

Protein Names

B-cell CLL/lymphoma 9-like protein

B cell CLL/lymphoma 9 like

Related Diseases

Diseases

Alias

Waardenburg Syndrome, Type 2e

Waardenburg Syndrome Type 2	Waardenburg Syndrome Type 2e
WS2E	Waardenburg Syndrome, Type 2e, With Or Without Neurologic Involvement
Waardenburg Syndrome, Type Iie	Hypogonadotropic Hypogonadism With Anosmia And Deafness With Or Without Hypopigmentation
Waardenburg Syndrome Type 2e With Or Without Neurologic Involvement	Waardenburg Syndrome Type Iie
Hypogonadotropic Hypogonadism With Anosmia And Deafness, With Or Without Hypopigmentation	Ws2e, With Or Without Neurologic Involvement
Ws2e With Or Without Neurological Involvement	Ws 2
Ws Type 2	Ws2
Waardenburg Syndrome Type Ii	Waardenburg Syndrome 2e
Kallmann Syndrome And Deafness With Or Without Hypopigmentation	Ws2e With Or Without Neurologic Involvement
Waardenburg Syndrome Type 2e, Without Neurologic Involvement	Ws-2

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01444	BCL9L Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	BCL9L	VGNC	VGNC:70113
Felis catus	BCL9L	VGNC	VGNC:60090
Mus musculus	BCL9L	MGD	MGI:1933114
Rattus norvegicus	BCL9L	RGD	RGD:1309096
Bos taurus	BCL9L	VGNC	VGNC:58093
Canis familiaris	BCL9L	VGNC	VGNC:58091

Name
Email *

	Sorry, but the email address you supplied was invalid.