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    CBX7 chromobox 7 [ Homo sapiens (human) ]

    Gene ID: 23492, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CBX7provided by HGNC
    Official Full Name
    chromobox 7provided by HGNC
    Primary source
    HGNC:HGNC:1557
    See related
    Ensembl:ENSG00000100307 MIM:608457; AllianceGenome:HGNC:1557
    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
    Summary
    This gene encodes a protein that contains the CHROMO (CHRomatin Organization MOdifier) domain. The encoded protein is a component of the Polycomb repressive complex 1 (PRC1), and is thought to control the lifespan of several normal human cells. [provided by RefSeq, Oct 2016]
    Expression
    Ubiquitous expression in ovary (RPKM 27.3), endometrium (RPKM 25.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CBX7 in Genome Data Viewer
    Location:
    22q13.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (39130772..39152680, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (39601155..39623071, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (39526777..39548685, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr22:39492371-39493570 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:39493781-39494667 Neighboring gene apolipoprotein B mRNA editing enzyme catalytic subunit 3H Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:39509973-39510947 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19031 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19032 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13742 Neighboring gene cytochrome c oxidase subunit 5B pseudogene 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39527431-39527992 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39529632-39530316 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39530317-39531000 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39531107-39532084 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39540727-39541516 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13744 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39544030-39544628 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39544629-39545227 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39548263-39548844 Neighboring gene FUN14 domain containing 2 pseudogene 4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:39567703-39568508 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:39569521-39570190 Neighboring gene Sharpr-MPRA regulatory region 8665 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:39601000-39601939 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:39605384-39605884 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:39609067-39609686 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:39609687-39610305 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr22:39610322-39611521 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:39612165-39612782 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39632330-39633224 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39633225-39634119 Neighboring gene platelet derived growth factor subunit B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19036 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13747

    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. Chromodomain antagonists that target the polycomb-group methyllysine reader protein chromobox homolog 7 (CBX7). Simhadri C, et al. J Med Chem, 2014 Apr 10. PMID 24625057
    2. CBX7 negatively regulates migration and invasion in glioma via Wnt/β-catenin pathway inactivation. Bao Z, et al. Oncotarget, 2017 Jun 13. PMID 28388562, Free PMC Article
    3. Potential role of CBX7 in regulating pluripotency of adult human pluripotent-like olfactory stem cells in stroke model. Fan JR, et al. Cell Death Dis, 2018 May 1. PMID 29717132, Free PMC Article
    4. Restoration of CBX7 expression increases the susceptibility of human lung carcinoma cells to irinotecan treatment. Cacciola NA, et al. Naunyn Schmiedebergs Arch Pharmacol, 2015 Nov. PMID 26216446
    5. Critical evaluation of Cbx7 downregulation in primary colon carcinomas and its clinical significance in Chinese patients. Zheng X, et al. BMC Cancer, 2015 Mar 18. PMID 25881303, Free PMC Article

    See all (76) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CBX7 promotes choroidal neovascularization by activating the HIF-1alpha/VEGF pathway in choroidal vascular endothelial cells.
      Title: CBX7 promotes choroidal neovascularization by activating the HIF-1α/VEGF pathway in choroidal vascular endothelial cells.
    2. A novel nanoplatform-based circCSNK1G3 affects CBX7 protein and promotes glioma cell growth.
      Title: A novel nanoplatform-based circCSNK1G3 affects CBX7 protein and promotes glioma cell growth.
    3. CBX7 reprograms metabolic flux to protect against meningioma progression by modulating the USP44/c-MYC/LDHA axis.
      Title: CBX7 reprograms metabolic flux to protect against meningioma progression by modulating the USP44/c-MYC/LDHA axis.
    4. Subcellular expression pattern and clinical significance of CBX2 and CBX7 in breast cancer subtypes.
      Title: Subcellular expression pattern and clinical significance of CBX2 and CBX7 in breast cancer subtypes.
    5. Adipose-derived exosomal miR-421 targets CBX7 and promotes metastatic potential in ovarian cancer cells.
      Title: Adipose-derived exosomal miR-421 targets CBX7 and promotes metastatic potential in ovarian cancer cells.
    6. Expression and correlation analysis of Skp2 and CBX7 in cervical cancer.
      Title: Expression and correlation analysis of Skp2 and CBX7 in cervical cancer.
    7. CBX7 represses the POU2F2 to inhibit the PD-L1 expression and regulate the immune response in bladder cancer.
      Title: CBX7 represses the POU2F2 to inhibit the PD-L1 expression and regulate the immune response in bladder cancer.
    8. Multiomics integrative analysis reveals antagonistic roles of CBX2 and CBX7 in metabolic reprogramming of breast cancer.
      Title: Multiomics integrative analysis reveals antagonistic roles of CBX2 and CBX7 in metabolic reprogramming of breast cancer.
    9. CBX7 suppresses urinary bladder cancer progression via modulating AKR1B10-ERK signaling.
      Title: CBX7 suppresses urinary bladder cancer progression via modulating AKR1B10-ERK signaling.
    10. MicroRNA-18a suppresses ovarian carcinoma progression by targeting CBX7 and regulating ERK/MAPK signaling pathway and epithelial-to-mesenchymal transition.
      Title: MicroRNA-18a suppresses ovarian carcinoma progression by targeting CBX7 and regulating ERK/MAPK signaling pathway and epithelial-to-mesenchymal transition.
    Submit: New GeneRIF Correction See all GeneRIFs (44)

    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

    EBI GWAS Catalog

    Description
    Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk.
    EBI GWAS Catalog
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    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)

    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in chromatin organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of PRC1 complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of PcG protein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of PcG protein complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in chromatin IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    chromobox protein homolog 7

    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_051974.1 RefSeqGene

      Range
      4971..26879
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001346743.2 → NP_001333672.1  chromobox protein homolog 7 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AL031846, BU584870
      Conserved Domains (2) summary
      cd18646
      Location:7 → 62
      CD_Cbx7; chromodomain of chromobox homolog 7
      pfam17218
      Location:208 → 239
      CBX7_C; CBX family C-terminal motif

    2. NM_001346744.2 → NP_001333673.1  chromobox protein homolog 7 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AL031846, BU584870, BU584877, DQ064603
      Consensus CDS
      CCDS87028.1
      UniProtKB/TrEMBL
      B0QYP2, Q4PNR6
      Related
      ENSP00000384035.3, ENST00000401405.7
      Conserved Domains (2) summary
      cd18646
      Location:7 → 62
      CD_Cbx7; chromodomain of chromobox homolog 7
      pfam17218
      Location:116 → 147
      CBX7_C; CBX family C-terminal motif

    3. NM_175709.5 → NP_783640.1  chromobox protein homolog 7 isoform 1

      See identical proteins and their annotated locations for NP_783640.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AL031846, BC051773, BU584870, BU584877
      Consensus CDS
      CCDS13986.1
      UniProtKB/Swiss-Prot
      O95931, Q86T17
      Related
      ENSP00000216133.5, ENST00000216133.10
      Conserved Domains (2) summary
      cd18646
      Location:7 → 62
      CD_Cbx7; chromodomain of chromobox homolog 7
      pfam17218
      Location:209 → 240
      CBX7_C; CBX family C-terminal motif

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      39130772..39152680 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      39601155..39623071 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95931.1 GenPept UniProtKB/Swiss-Prot:O95931

    Gene LinkOut

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

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