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    CBX2 chromobox 2 [ Homo sapiens (human) ]

    Gene ID: 84733, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CBX2provided by HGNC
    Official Full Name
    chromobox 2provided by HGNC
    Primary source
    HGNC:HGNC:1552
    See related
    Ensembl:ENSG00000173894 MIM:602770; AllianceGenome:HGNC:1552
    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
    M33; CDCA6; SRXY5
    Summary
    This gene encodes a component of the polycomb multiprotein complex, which is required to maintain the transcriptionally repressive state of many genes throughout development via chromatin remodeling and modification of histones. Disruption of this gene in mice results in male-to-female gonadal sex reversal. Mutations in this gene are also associated with gonadal dysgenesis in humans. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Mar 2010]
    Expression
    Biased expression in testis (RPKM 5.1), placenta (RPKM 1.0) and 13 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CBX2 in Genome Data Viewer
    Location:
    17q25.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (79777311..79787983)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (80675116..80685808)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (77751947..77761782)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12919 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12920 Neighboring gene ectonucleotide pyrophosphatase/phosphodiesterase 7 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9081 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:77721486-77722425 Neighboring gene uncharacterized LOC124904070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77733899-77734400 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77736115-77736615 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9082 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9083 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77752607-77753200 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9084 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:77764567-77765376 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:77767145-77767859 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:77768921-77769661 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9085 Neighboring gene Sharpr-MPRA regulatory region 5922 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9087 Neighboring gene chromobox 8 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9088 Neighboring gene uncharacterized LOC124904071 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12921 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9089 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9090 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:77784936-77785461

    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. CBX2 shapes chromatin accessibility promoting AML via p38 MAPK signaling pathway. Del Gaudio N, et al. Mol Cancer, 2022 Jun 9. PMID 35681235, Free PMC Article
    2. The transcriptional regulator CBX2 and ovarian function: A whole genome and whole transcriptome approach. Bouazzi L, et al. Sci Rep, 2019 Nov 19. PMID 31745224, Free PMC Article
    3. CBX2-dependent transcriptional landscape: implications for human sex development and its defects. Sproll P, et al. Sci Rep, 2019 Nov 12. PMID 31719618, Free PMC Article
    4. Chromobox 2 Expression Predicts Prognosis After Curative Resection of Oesophageal Squamous Cell Carcinoma. Ueda S, et al. Cancer Genomics Proteomics, 2020 Jul-Aug. PMID 32576584, Free PMC Article
    5. A novel approach to modelling transcriptional heterogeneity identifies the oncogene candidate CBX2 in invasive breast carcinoma. Piqué DG, et al. Br J Cancer, 2019 Apr. PMID 30820027, Free PMC Article

    See all (88) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. USP33 facilitates the ovarian cancer progression via deubiquitinating and stabilizing CBX2.
      Title: USP33 facilitates the ovarian cancer progression via deubiquitinating and stabilizing CBX2.
    2. Bioinformatics analysis reveals that CBX2 promotes enzalutamide resistance in prostate cancer.
      Title: Bioinformatics analysis reveals that CBX2 promotes enzalutamide resistance in prostate cancer.
    3. 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.
    4. Cuproptosis-related ceRNA axis triggers cell proliferation and cell cycle through CBX2 in lung adenocarcinoma.
      Title: Cuproptosis-related ceRNA axis triggers cell proliferation and cell cycle through CBX2 in lung adenocarcinoma.
    5. Prognostic hub gene CBX2 drives a cancer stem cell-like phenotype in HCC revealed by multi-omics and multi-cohorts.
      Title: Prognostic hub gene CBX2 drives a cancer stem cell-like phenotype in HCC revealed by multi-omics and multi-cohorts.
    6. Phosphorylation of USP27X by GSK3beta maintains the stability and oncogenic functions of CBX2.
      Title: Phosphorylation of USP27X by GSK3β maintains the stability and oncogenic functions of CBX2.
    7. MiR-30a-5p inhibits cell behaviors in esophageal cancer via modulating CBX2.
      Title: MiR-30a-5p inhibits cell behaviors in esophageal cancer via modulating CBX2.
    8. Loss of CBX2 causes genomic instability and Wnt activation in high grade serous ovarian carcinoma cells.
      Title: Loss of CBX2 causes genomic instability and Wnt activation in high grade serous ovarian carcinoma cells.
    9. CBX2 in DSD: The Quirky Kid on the Block.
      Title: CBX2 in DSD: The Quirky Kid on the Block.
    10. CBX2 shapes chromatin accessibility promoting AML via p38 MAPK signaling pathway.
      Title: CBX2 shapes chromatin accessibility promoting AML via p38 MAPK signaling pathway.
    Submit: New GeneRIF Correction See all GeneRIFs (31)

    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

    Associated conditions

    Description Tests
    46,XY sex reversal 5
    MedGen: C2751317 OMIM: 613080 GeneReviews: Not available
    		Compare labs

    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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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Both HIV-1 Tat 47-59 and FITC-labeled Tat 47-59 peptides downregulate gene expression of chromobox homolog 2 (CBX2) in U-937 macrophages 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

    Clone Names

    • MGC10561

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables chromatin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables methylated histone binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chromatin organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in development of primary sexual characteristics IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of PRC1 complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of PcG protein complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in euchromatin IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in heterochromatin IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    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 2
    Names
    Pc class homolog
    cell division cycle associated 6
    chromobox homolog 2 (Pc class homolog, Drosophila)
    modifier 3

    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_016986.1 RefSeqGene

      Range
      4971..14806
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005189.3 → NP_005180.1  chromobox protein homolog 2 isoform 1

      See identical proteins and their annotated locations for NP_005180.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC105337, AL157459, CN367098, CV815254, DB452048
      Consensus CDS
      CCDS32757.1
      UniProtKB/Swiss-Prot
      Q0VDA5, Q14781, Q9BTB1
      Related
      ENSP00000308750.4, ENST00000310942.9
      Conserved Domains (1) summary
      pfam00385
      Location:15 → 61
      Chromo; Chromo (CHRromatin Organization MOdifier) domain

    2. NM_032647.4 → NP_116036.1  chromobox protein homolog 2 isoform 2

      See identical proteins and their annotated locations for NP_116036.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks a 3' exon compared to variant 1, resulting in an alternate 3' coding region and UTR. It encodes a shorter isoform (2) with an unique C-terminus compared to isoform 1.
      Source sequence(s)
      AC105337, BC004252, DB452048
      Consensus CDS
      CCDS11764.1
      UniProtKB/Swiss-Prot
      Q14781
      Related
      ENSP00000269399.5, ENST00000269399.5
      Conserved Domains (1) summary
      pfam00385
      Location:15 → 61
      Chromo; Chromo (CHRromatin Organization MOdifier) domain

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      79777311..79787983
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011525383.3 → XP_011523685.1  chromobox protein homolog 2 isoform X2

      Conserved Domains (1) summary
      pfam17218
      Location:406 → 438
      CBX7_C; CBX family C-terminal motif

    2. XM_011525382.2 → XP_011523684.1  chromobox protein homolog 2 isoform X1

      Conserved Domains (1) summary
      pfam00385
      Location:15 → 61
      Chromo; Chromo (CHRromatin Organization MOdifier) domain

    3. XM_047436946.1 → XP_047292902.1  chromobox protein homolog 2 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      80675116..80685808
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054317579.1 → XP_054173554.1  chromobox protein homolog 2 isoform X2

    2. XM_054317578.1 → XP_054173553.1  chromobox protein homolog 2 isoform X1

    3. XM_054317580.1 → XP_054173555.1  chromobox protein homolog 2 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14781.2 GenPept UniProtKB/Swiss-Prot:Q14781

    Gene LinkOut

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

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