1. Gene
  2. BCL7B - BAF chromatin remodeling complex subunit BCL7B Gene

BCL7B - BAF chromatin remodeling complex subunit BCL7B Gene

Homo sapiens

Also known as SMARCJ2

Gene ID: 9275 | Gene type: protein coding

About BCL7B

Cytogenetic location: 7q11.23 Genomic coordinates (GRCh38): 7:73,536,356-73,557,690 (from NCBI)

This gene has 14 transcripts (splice variants), 225 orthologues, 2 paralogues and is associated with 1 phenotype. Ubiquitous expression in bone marrow (RPKM 30.9), testis (RPKM 18.4) and 25 other tissues.

Summary

This gene encodes a member of the BCL7 family including BCL7A, BCL7B and BCL7C proteins. This member is BCL7B, which contains a region that is highly similar to the N-terminal segment of BCL7A or BCL7C proteins. The BCL7A protein is encoded by the gene known to be directly involved in a three-way gene translocation in a Burkitt lymphoma cell line. This gene is located at a chromosomal region commonly deleted in Williams syndrome. This gene is highly conserved from C. elegans to human. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2010]

BCL7B Products(3)

mRNA Protein Name
NM_001197244.2 NP_001184173.1 B-cell CLL/lymphoma 7 protein family member B isoform 2
NM_001301061.2 NP_001287990.1 B-cell CLL/lymphoma 7 protein family member B isoform 3
NM_001707.4 NP_001698.2 B-cell CLL/lymphoma 7 protein family member B isoform 1

BCL7B Protein Structure

BCL_N

BCL_N: BCL7, N-terminal conserver region (4 - 52)

  • 0
  • 100
  • 202 a.a.
Protein Preferred Names Protein Names

B-cell CLL/lymphoma 7 protein family member B

B-cell CLL/lymphoma 7B

Related Diseases

Diseases Alias
Williams-Beuren Syndrome

Williams Syndrome

WBS

Wms

Deletion 7q11.23

Monosomy 7q11.23

Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb

Fanconi Schlesinger Syndrome

Beuren Syndrome

Elfin Facies Syndrome

Elfin Facies With Hypercalcemia

Hypercalcemia-Supravalvar Aortic Stenosis

Ws

Lymphoma

Lymphoid Cancer

Lymphomas

Lymphoid Cancers

Lymphoid Neoplasm

Lymphoma Nos

Nhl - [Non-Hodgkin Lymphoma]

Non-Hodgkin Lymphoma

Non-Hodgkin Lymphoma, Nos

Non-Hodgkin Malignant Lymphoma Nos

Burkitt Lymphoma

Burkitt'S Lymphoma

BL

Burkitt Lymphoma, Somatic

Burkitt Lymphoma/Leukaemia

Burkitt'S Tumor

Burkitt'S Tumor Or Lymphoma

Malignant Lymphoma, Burkitt'S Type

Small Non-Cleaved Cell Lymphoma, Burkitt'S Type

Small Non-Cleaved Cell Lymphoma

Burkitt Tumor

Burkitts Lymphoma

Lymphoma, Small Noncleaved-Cell

Burkitt Tumour

Diffuse Small Noncleaved Malignant Burkitt Lymphoma

Malignant Burkitt Lymphoma

“Burkitt-Like” Lymphoma

Undifferentiated Burkitt Lymphoma

Small Noncleaved Cell Burkitt Lymphoma

Dermatitis

Eczema

Skin Inflammation

Inflammatory Dermatosis

Spinal Meningioma

Spinal Cord Meningioma

Meningioma, Spine

Meningioma

Meningioma, Benign, No Icd-O Subtype

Spinal Canal And Spinal Cord Meningioma
Williams-Beuren Region Duplication Syndrome

7q11.23 Duplication Syndrome

7q11.23 Microduplication Syndrome

Chromosome 7q11.23 Duplication Syndrome

Wbs Duplication Syndrome

Somerville-Van Der Aa Syndrome

Dup(7)(Q11.23)

Trisomy 7q11.23

William-Beuren Region Duplication Syndrome

Chromosome 7q11.23 Duplication

Hypophosphatasia, Childhood

Childhood Hypophosphatasia

Childhood-Onset Hypophosphatasia

HPPC

Childhood-Onset Phosphoethanolaminuria

Childhood-Onset Rathburn Disease

Childhood-Onset Rathbun Disease

Small-Cell Carcinoma Of The Ovary Of Hypercalcemic Type

Hypercalcemic Type Ovarian Small Cell Carcinoma

Small Cell Carcinoma Of The Ovary, Hypercalcemic Type

Ovarian Small Cell Carcinoma, Hypercalcemic Type

Supravalvular Aortic Stenosis

SVAS

Supravalvar Aortic Stenosis

Supravalvar Aortic Stenosis, Eisenberg Type

Aortic Supravalvular Stenosis

Aortic Stenosis, Supravalvular

Supra-Valvular Aortic Stenosis

Stenosis, Aortic Supravalvular

Stenosis, Supravalvular Aortic

Supravalvular Stenosis, Aortic

Aortic Stenosis Supravalvular

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
Bos taurus BCL7B VGNC VGNC:26450
Canis familiaris BCL7B VGNC VGNC:38413
Mus musculus BCL7B MGD MGI:1332238
Rattus norvegicus BCL7B RGD RGD:1597090
Macaca mulatta BCL7B VGNC VGNC:70039
Felis catus BCL7B VGNC VGNC:60088