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BCL7B BAF chromatin remodeling complex subunit BCL7B [ Homo sapiens (human) ]

Gene ID: 9275, updated on 5-Mar-2024

Summary

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Official Symbol
BCL7Bprovided by HGNC
Official Full Name
BAF chromatin remodeling complex subunit BCL7Bprovided by HGNC
Primary source
HGNC:HGNC:1005
See related
Ensembl:ENSG00000106635 MIM:605846; AllianceGenome:HGNC:1005
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SMARCJ2
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]
Expression
Ubiquitous expression in bone marrow (RPKM 30.9), testis (RPKM 18.4) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
7q11.23
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (73536356..73557690, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (74736839..74758190, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (72950686..72972020, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:72847927-72848800 Neighboring gene Sharpr-MPRA regulatory region 10074 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:72856950-72857920 Neighboring gene frizzled class receptor 9 Neighboring gene bromodomain adjacent to zinc finger domain 1B Neighboring gene RNA, U6 small nuclear 1198, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:72930153-72930652 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18248 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26123 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18249 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26124 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18250 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18251 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18253 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18252 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18254 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26125 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73001900-73002400 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73002401-73002901 Neighboring gene transducin beta like 2 Neighboring gene Sharpr-MPRA regulatory region 5103 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73017160-73017696 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73021869-73022452 Neighboring gene MLX interacting protein like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73049903-73050752 Neighboring gene Sharpr-MPRA regulatory region 8994

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Williams syndrome and mature B-Leukemia: A random association? Decimi V, et al. Eur J Med Genet, 2016 Dec. PMID 27771473
  2. Williams-Beuren Syndrome and Burkitt Leukemia. Zhukova N, et al. J Pediatr Hematol Oncol, 2013 Jan. PMID 23018576
  3. Overexpression of PODXL/ITGB1 and BCL7B/ITGB1 accurately predicts unfavorable prognosis compared to the TNM staging system in postoperative pancreatic cancer patients. Taniuchi K, et al. PLoS One, 2019. PMID 31166991, Free PMC Article
  4. Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes. Meng X, et al. Hum Genet, 1998 Nov. PMID 9860302
  5. Molecular cloning of complex chromosomal translocation t(8;14;12)(q24.1;q32.3;q24.1) in a Burkitt lymphoma cell line defines a new gene (BCL7A) with homology to caldesmon. Zani VJ, et al. Blood, 1996 Apr 15. PMID 8605326

See all (52) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. the combination of PODXL with ITGB1 and the combination of BCL7B with ITGB1 accurately predicted the postoperative outcomes of pancreatic cancer patients.
    Title: Overexpression of PODXL/ITGB1 and BCL7B/ITGB1 accurately predicts unfavorable prognosis compared to the TNM staging system in postoperative pancreatic cancer patients.
  2. We herewith propose that the BCL7B gene, located in the chromosomal region commonly deleted in Williams syndrome, could potentially have a role in this particular association.
    Title: Williams syndrome and mature B-Leukemia: A random association?
  3. our data indicate that BCL7B/BCL-7 has some roles in maintaining the structure of nuclei and is involved in the modulation of multiple pathways, including Wnt and apoptosis.
    Title: The Tumor Suppressor BCL7B Functions in the Wnt Signaling Pathway.
  4. BCL7B gene deltion is associated with Williams-Beuren Syndrome leading to Burkitt Leukemia.
    Title: Williams-Beuren Syndrome and Burkitt Leukemia.
  5. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic loci associated with lipid concentrations and cardiovascular risk factors in the Korean population.
  6. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
    Title: Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population.
Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
EBI GWAS Catalog
Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
EBI GWAS Catalog
Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels.
EBI GWAS Catalog
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of B-cell CLL/lymphoma 7B (BCL7B) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin binding NAS
Non-traceable Author Statement
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in apoptotic process IEA
Inferred from Electronic Annotation
more info
  
involved_in biological_process ND
No biological Data available
more info
  
involved_in cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in chromatin remodeling NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in negative regulation of cell differentiation NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in positive regulation of cell population proliferation NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in positive regulation of double-strand break repair NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in positive regulation of stem cell population maintenance NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in regulation of G0 to G1 transition NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in regulation of G1/S transition of mitotic cell cycle NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in regulation of mitotic metaphase/anaphase transition NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in regulation of nucleotide-excision repair NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in regulation of transcription by RNA polymerase II NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
part_of GBAF complex NAS
Non-traceable Author Statement
more info
 PubMed 
part_of SWI/SNF complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of SWI/SNF complex NAS
Non-traceable Author Statement
more info
 PubMed 
part_of chromatin NAS
Non-traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
B-cell CLL/lymphoma 7 protein family member B
Names
B-cell CLL/lymphoma 7B
BCL tumor suppressor 7B
BCL7B, BAF complex component

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_027959.1 RefSeqGene

    Range
    5046..26380
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001197244.2 → NP_001184173.1  B-cell CLL/lymphoma 7 protein family member B isoform 2

    See identical proteins and their annotated locations for NP_001184173.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the CDS, as compared to variant 1. The resulting isoform (2) lacks an internal segment, as compared to isoform 1.
    Source sequence(s)
    BC009548, BI837138
    Consensus CDS
    CCDS56489.1
    UniProtKB/Swiss-Prot
    Q9BQE9
    Related
    ENSP00000393230.1, ENST00000411832.5
    Conserved Domains (1) summary
    pfam04714
    Location:4 → 50
    BCL_N; BCL7, N-terminal conserver region

  2. NM_001301061.2 → NP_001287990.1  B-cell CLL/lymphoma 7 protein family member B isoform 3

    See identical proteins and their annotated locations for NP_001287990.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains an alternate exon in the 5' coding region and uses an alternate start codon, compared to variant 1. The encoded isoform (3) has a longer and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AL525884, AW328570, BC000956, BI603803
    Consensus CDS
    CCDS75613.1
    UniProtKB/TrEMBL
    F2Z3H6
    Related
    ENSP00000411073.2, ENST00000455335.2
    Conserved Domains (2) summary
    pfam04714
    Location:42 → 61
    BCL_N; BCL7, N-terminal conserver region
    pfam13900
    Location:7 → 42
    GVQW; Putative domain of unknown function

  3. NM_001707.4 → NP_001698.2  B-cell CLL/lymphoma 7 protein family member B isoform 1

    See identical proteins and their annotated locations for NP_001698.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    AL553260, AW328570, BC009548
    Consensus CDS
    CCDS5550.1
    UniProtKB/Swiss-Prot
    A8K226, C9JWD3, D3DXF0, O43769, Q13845, Q6ZW75, Q9BQE9
    Related
    ENSP00000223368.2, ENST00000223368.7
    Conserved Domains (1) summary
    pfam04714
    Location:4 → 50
    BCL_N; BCL7, N-terminal conserver region

RNA

  1. NR_036682.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has an alternate 5' exon, as compared to variant 1. The transcript lacks a valid open reading frame and does not encode a protein.
    Source sequence(s)
    BC001967, BQ109412, DA688517
    Related
    ENST00000482231.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    73536356..73557690 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047421029.1 → XP_047276985.1  B-cell CLL/lymphoma 7 protein family member B isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    74736839..74758190 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054359327.1 → XP_054215302.1  B-cell CLL/lymphoma 7 protein family member B isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_138707.1: Suppressed sequence

    Description
    NM_138707.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BQE9.1 GenPept UniProtKB/Swiss-Prot:Q9BQE9

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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