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

    Gene ID: 9275, updated on 27-Nov-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
    mouse all
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    Genomic context

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    See BCL7B in Genome Data Viewer
    Location:
    7q11.23
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (73536356..73557690, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (74736839..74758190, complement)
    RS_2024_09 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-Beuren Syndrome and Burkitt Leukemia. Zhukova N, et al. J Pediatr Hematol Oncol, 2013 Jan. PMID 23018576
    2. Williams syndrome and mature B-Leukemia: A random association? Decimi V, et al. Eur J Med Genet, 2016 Dec. PMID 27771473
    3. 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
    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. 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

    See all (54) 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)

    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 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 
    located_in chromatin NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  

    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_2024_08

    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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