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    CBX2 chromobox 2 [ Homo sapiens (human) ]

    Gene ID: 84733, updated on 21-Feb-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CBX2 in Genome Data Viewer
    Location:
    17q25.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (79777311..79787983)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (80675116..80685808)
    105.20220307 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    part_of euchromatin IEA
    Inferred from Electronic Annotation
    more info
     
    part_of 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

    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)

    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.

    Genomic

    1. NG_016986.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_005189.3NP_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:1561
      Chromo; Chromo (CHRromatin Organization MOdifier) domain
    2. NM_032647.4NP_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:1561
      Chromo; Chromo (CHRromatin Organization MOdifier) domain

    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_000017.11 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

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

      Conserved Domains (1) summary
      pfam17218
      Location:406438
      CBX7_C; CBX family C-terminal motif
    2. XM_011525382.2XP_011523684.1  chromobox protein homolog 2 isoform X1

      Conserved Domains (1) summary
      pfam00385
      Location:1561
      Chromo; Chromo (CHRromatin Organization MOdifier) domain
    3. XM_047436946.1XP_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_054317579.1XP_054173554.1  chromobox protein homolog 2 isoform X2

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

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