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    BCL7C BAF chromatin remodeling complex subunit BCL7C [ Homo sapiens (human) ]

    Gene ID: 9274, updated on 3-Apr-2024

    Summary

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    Official Symbol
    BCL7Cprovided by HGNC
    Official Full Name
    BAF chromatin remodeling complex subunit BCL7Cprovided by HGNC
    Primary source
    HGNC:HGNC:1006
    See related
    Ensembl:ENSG00000099385 MIM:605847; AllianceGenome:HGNC:1006
    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
    SMARCJ3
    Summary
    This gene is identified by the similarity of its product to the N-terminal region of BCL7A protein. 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. The function of this gene has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
    Expression
    Ubiquitous expression in ovary (RPKM 5.5), endometrium (RPKM 4.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    16p11.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (30833626..30894077, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (31221122..31281535, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (30844947..30905398, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10728 Neighboring gene zinc finger protein 629 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:30807171-30807374 Neighboring gene uncharacterized LOC124903679 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7394 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7395 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30824465-30825020 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30825021-30825575 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7396 Neighboring gene chromosome 20 open reading frame 27 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10730 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10731 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30885309-30886064 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30886065-30886819 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30886820-30887574 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:30893961-30894461 Neighboring gene MIR762 host gene Neighboring gene microRNA 4519 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7398 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:30898777-30899278 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30904355-30904987 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7399 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30906599-30907104 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30907105-30907608 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10736 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7400 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30915408-30915908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30915909-30916409 Neighboring gene microRNA 762 Neighboring gene cardiotrophin 1 Neighboring gene cardiotrophin 2, pseudogene

    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. BCL7C suppresses ovarian cancer growth by inactivating mutant p53. Huang C, et al. J Mol Cell Biol, 2021 May 7. PMID 33306126, Free PMC Article
    2. 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
    3. The BCL7 gene family: deletion of BCL7B in Williams syndrome. Jadayel DM, et al. Gene, 1998 Dec 11. PMID 9931421
    4. Proteomic and bioinformatic analysis of mammalian SWI/SNF complexes identifies extensive roles in human malignancy. Kadoch C, et al. Nat Genet, 2013 Jun. PMID 23644491, Free PMC Article
    5. Risk of non-Hodgkin lymphoma associated with germline variation in genes that regulate the cell cycle, apoptosis, and lymphocyte development. Morton LM, et al. Cancer Epidemiol Biomarkers Prev, 2009 Apr. PMID 19336552, Free PMC Article

    See all (47) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. BCL7C suppresses ovarian cancer growth by inactivating mutant p53.
      Title: BCL7C suppresses ovarian cancer growth by inactivating mutant p53.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    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

    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

    Process Evidence Code Pubs
    involved_in apoptotic process 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 C
    Names
    B-cell CLL/lymphoma 7C
    BCL tumor suppressor 7C
    BCL7C, BAF complex component

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_001286526.2 → NP_001273455.1  B-cell CLL/lymphoma 7 protein family member C isoform 1

      See identical proteins and their annotated locations for NP_001273455.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC135048, AC138417, BC058863, BG055884
      Consensus CDS
      CCDS67012.1
      UniProtKB/Swiss-Prot
      Q8WUZ0
      Related
      ENSP00000369674.4, ENST00000380317.8
      Conserved Domains (1) summary
      pfam04714
      Location:4 → 50
      BCL_N; BCL7, N-terminal conserver region

    2. NM_004765.4 → NP_004756.2  B-cell CLL/lymphoma 7 protein family member C isoform 2

      See identical proteins and their annotated locations for NP_004756.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      BC019071, BC058863
      Consensus CDS
      CCDS10693.1
      UniProtKB/Swiss-Prot
      O43770, Q6PD89, Q8WUZ0
      Related
      ENSP00000215115.4, ENST00000215115.5
      Conserved Domains (1) summary
      pfam04714
      Location:4 → 50
      BCL_N; BCL7, N-terminal conserver region

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      30833626..30894077 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047434898.1 → XP_047290854.1  B-cell CLL/lymphoma 7 protein family member C isoform X4

    2. XM_047434897.1 → XP_047290853.1  B-cell CLL/lymphoma 7 protein family member C isoform X3

    3. XM_011545980.4 → XP_011544282.1  B-cell CLL/lymphoma 7 protein family member C isoform X2

      UniProtKB/TrEMBL
      I3L1Q2
      Related
      ENSP00000459007.1, ENST00000572628.5
      Conserved Domains (1) summary
      pfam04714
      Location:4 → 50
      BCL_N; BCL7, N-terminal conserver region

    4. XM_047434896.1 → XP_047290852.1  B-cell CLL/lymphoma 7 protein family member C isoform X1

    5. XM_047434899.1 → XP_047290855.1  B-cell CLL/lymphoma 7 protein family member C isoform X5

    6. XM_047434900.1 → XP_047290856.1  B-cell CLL/lymphoma 7 protein family member C isoform X6

      Related
      ENSP00000461177.1, ENST00000574418.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      31221122..31281535 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054314372.1 → XP_054170347.1  B-cell CLL/lymphoma 7 protein family member C isoform X2

    2. XM_054314374.1 → XP_054170349.1  B-cell CLL/lymphoma 7 protein family member C isoform X4

    3. XM_054314373.1 → XP_054170348.1  B-cell CLL/lymphoma 7 protein family member C isoform X3

    4. XM_054314371.1 → XP_054170346.1  B-cell CLL/lymphoma 7 protein family member C isoform X1

    5. XM_054314375.1 → XP_054170350.1  B-cell CLL/lymphoma 7 protein family member C isoform X7

    6. XM_054314376.1 → XP_054170351.1  B-cell CLL/lymphoma 7 protein family member C isoform X5

    7. XM_054314377.1 → XP_054170352.1  B-cell CLL/lymphoma 7 protein family member C isoform X6

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WUZ0.3 GenPept UniProtKB/Swiss-Prot:Q8WUZ0

    Gene LinkOut

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

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