BCL9L - BCL9 like Gene

Also Known as B9L; BCL9-2; DLNB11

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 283149

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 References Source
enables beta-catenin binding IDA
IDA: Inferred from direct assay
15574752 GOA
Biological Process GO Annotation Evidence References 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 References 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

BCL9: B-cell lymphoma 9 protein (398 - 428)

  • 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

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS01444 BCL9L Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS21497 Bcl9l Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS28015 Bcl9l Rat Pre-designed siRNA Set A Pre-designed Set / 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
Others BCL9L NCBI