CBX2 chromobox 2 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

USP33 facilitates the ovarian cancer progression via deubiquitinating and stabilizing CBX2.
Title: USP33 facilitates the ovarian cancer progression via deubiquitinating and stabilizing CBX2.
Bioinformatics analysis reveals that CBX2 promotes enzalutamide resistance in prostate cancer.
Title: Bioinformatics analysis reveals that CBX2 promotes enzalutamide resistance in prostate cancer.
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.
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.
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.
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.
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.
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.
CBX2 in DSD: The Quirky Kid on the Block.
Title: CBX2 in DSD: The Quirky Kid on the Block.
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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH47739 (e-PCR)
- UniSTS:78859

RH66799 (e-PCR)
- UniSTS:10516

RH93970 (e-PCR)
- UniSTS:88374

SHGC-111083 (e-PCR)
- UniSTS:168130

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

NG_016986.1 RefSeqGene

Range

4971..14806

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

79777311..79787983

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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