1. Gene
  2. BCL9L - BCL9 like Gene

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

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

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