BCL7B - BAF chromatin remodeling complex subunit BCL7B Gene

Also Known as SMARCJ2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9275

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
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
21044950 GOA
Cellular Component GO Annotation Evidence References Source
part of SWI/SNF complex IDA
IDA: Inferred from direct assay
23644491 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

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

BCL7B Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
BCL7B Q9BQE9 MAGEA6 Homo sapiens P43360 25416956
Intra
BCL7B Q9BQE9 MAGEA6 Homo sapiens P43360 32296183
Intra
BCL7B Q9BQE9 MAGEA6 Homo sapiens P43360 32296183
Intra
BCL7B Q9BQE9 MAGEA3 Homo sapiens P43357 32296183
Intra
BCL7B Q9BQE9 MAGEA3 Homo sapiens P43357 32296183
Intra
BCL7B Q9BQE9 TERF2IP Homo sapiens Q9NYB0 21044950
Intra
BCL7B Q9BQE9 TERF2IP Homo sapiens Q9NYB0 21044950
Cross: Cross-species interaction Intra: Intraspecies interaction

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
Others BCL7B NCBI