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CBX2 chromobox 2 [ Homo sapiens (human) ]

Gene ID: 84733, updated on 5-Mar-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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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

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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. Loss of CBX2 causes genomic instability and Wnt activation in high grade serous ovarian carcinoma cells. Ma Y, et al. Mol Carcinog, 2023 Apr. PMID 36621979
  2. 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
  3. CBX2 Expression in Colorectal Mucosa-adenoma-adenocarcinoma Sequence. Wang B, et al. J Coll Physicians Surg Pak, 2021 Sep. PMID 34500520
  4. M33 condenses chromatin through nuclear body formation and methylation of both histone H3 lysine 9 and lysine 27. Lin YR, et al. Biochim Biophys Acta Mol Cell Res, 2021 Oct. PMID 34274396
  5. 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

See all (74) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. CBX2 in DSD: The Quirky Kid on the Block.
    Title: CBX2 in DSD: The Quirky Kid on the Block.
  8. CBX2 shapes chromatin accessibility promoting AML via p38 MAPK signaling pathway.
    Title: CBX2 shapes chromatin accessibility promoting AML via p38 MAPK signaling pathway.
  9. Developmental maturation of the hematopoietic system controlled by a Lin28b-let-7-Cbx2 axis.
    Title: Developmental maturation of the hematopoietic system controlled by a Lin28b-let-7-Cbx2 axis.
  10. 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.
Submit: New GeneRIF Correction See all GeneRIFs (29)

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
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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

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 
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

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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_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_011525383.3 → 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

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