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CBX2 chromobox 2 [ Homo sapiens (human) ]

Gene ID: 84733, updated on 12-Oct-2019

Summary

Official Symbol
CBX2provided by HGNC
Official Full Name
chromobox 2provided by HGNC
Primary source
HGNC:HGNC:1552
See related
Ensembl:ENSG00000173894 MIM:602770
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

Genomic context

See CBX2 in Genome Data Viewer
Location:
17q25.3
Exon count:
7
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (79776254..79787983)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (77751977..77761449)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 9091 Neighboring gene ectonucleotide pyrophosphatase/phosphodiesterase 7 Neighboring gene chromobox 8 Neighboring gene uncharacterized LOC102723961

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 BioSystems

  • Cellular Senescence, organism-specific biosystem (from REACTOME)
    Cellular Senescence, organism-specific biosystemCellular senescence involves irreversible growth arrest accompanied by phenotypic changes such as enlarged morphology, reorganization of chromatin through formation of senescence-associated heterochr...
  • Cellular responses to stress, organism-specific biosystem (from REACTOME)
    Cellular responses to stress, organism-specific biosystemCells are subject to external molecular and physical stresses such as foreign molecules that perturb metabolic or signaling processes, and changes in temperature or pH. The ability of cells and tissu...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Oxidative Stress Induced Senescence, organism-specific biosystem (from REACTOME)
    Oxidative Stress Induced Senescence, organism-specific biosystemOxidative stress, caused by increased concentration of reactive oxygen species (ROS) in the cell, can happen as a consequence of mitochondrial dysfunction induced by the oncogenic RAS (Moiseeva et al...
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • SUMO E3 ligases SUMOylate target proteins, organism-specific biosystem (from REACTOME)
    SUMO E3 ligases SUMOylate target proteins, organism-specific biosystemSUMO proteins are conjugated to lysine residues of target proteins via an isopeptide bond with the C-terminal glycine of SUMO (reviewed in Zhao 2007, Gareau and Lima 2010, Hannoun et al. 2010, Citro ...
  • SUMOylation, organism-specific biosystem (from REACTOME)
    SUMOylation, organism-specific biosystemSmall Ubiquitin-like MOdifiers (SUMOs) are a family of 3 proteins (SUMO1,2,3) that are reversibly conjugated to lysine residues of target proteins via a glycine-lysine isopeptide bond (reviewed in Ha...
  • SUMOylation of DNA damage response and repair proteins, organism-specific biosystem (from REACTOME)
    SUMOylation of DNA damage response and repair proteins, organism-specific biosystemSeveral factors that participate in DNA damage response and repair are SUMOylated (reviewed in Dou et al. 2011, Bekker-Jensen and Mailand 2011, Ulrich 2012, Psakhye and Jentsch 2012, Bologna and Ferr...
  • SUMOylation of RNA binding proteins, organism-specific biosystem (from REACTOME)
    SUMOylation of RNA binding proteins, organism-specific biosystemSUMOylation of RNA-binding proteins (Li et al. 2004, reviewed in Filosa et al. 2013) alters their interactions with nucleic acids and with proteins. Whereas SUMOylation of HNRNPC decreases its affini...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC10561

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
chromatin binding IEA
Inferred from Electronic Annotation
more info
 
methylated histone binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
chromatin organization IEA
Inferred from Electronic Annotation
more info
 
development of primary sexual characteristics IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
PRC1 complex IDA
Inferred from Direct Assay
more info
PubMed 
PcG protein complex IDA
Inferred from Direct Assay
more info
PubMed 
euchromatin IEA
Inferred from Electronic Annotation
more info
 
heterochromatin IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
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)

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
    Q14781
    Related
    ENSP00000308750.4, ENST00000310942.9
    Conserved Domains (1) summary
    pfam00385
    Location:1561
    Chromo; Chromo (CHRromatin Organization MOdifier) domain
  2. NM_032647.3NP_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: Homo sapiens Annotation Release 109.20190905

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    79776254..79787983
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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

    Conserved Domains (1) summary
    pfam00385
    Location:1561
    Chromo; Chromo (CHRromatin Organization MOdifier) domain
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