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FLASH GENE

Symbol

CBX2

contributors: mct/npt - updated : 22-10-2021

HGNC name	chromobox homolog 2 (Pc class homolog, Drosophila)
HGNC id	1552

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	SRA4 sex reversal XY, CBX2-related
Location	17q25.3      Physical location : 77.751.976 - 77.761.449
Synonym name	M33 polycomb-like
	cell division cycle associated 6
	modifier 3
Synonym symbol(s)	CDCA6, M33, MGC10561, SRXY5

DNA

TYPE	functioning gene
STRUCTURE	11.73 kb     5 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005189 5 - 4192 NP_005180 - 532 - 2019 31745224 CBX2.1 NM_032647 4 - 1107 NP_116036 - 211 - 2019 31745224 CBX2.2 CBX2.2 variants that fail to regulate the expression of genes essential for sexual development, leading to a severe 46,XY DSD defect, likely because of a defective expression of EMX2 in the developing gonad (PMID: 29998616)

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Reproductive female system uterus     highly Visual eye       highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a chromatin organization modifier (chromo) domain conserved and chromobox regions were dispensable for chromatin association
	a AT HOOK DNA-binding domain

HOMOLOGY

interspecies

homolog to Drosophila polycomb-like (PcG) chromobox 2

Homologene

FAMILY

polycomb group CBX family

CATEGORY

DNA associated

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,nucleoplasm
	intracellular,nucleus,chromatin/chromosome,euchromosome
	intracellular,nucleus,chromatin/chromosome,heterochromosome

basic FUNCTION	involved in the compaction of chromatin
	required to maintain the transcriptionally repressive state of many genes, including hox genes, throughout development
	CBX2 role in the sex development cascade is likely to stimulate the male pathway and concurrently inhibit the female pathway
	stabilization of the testis fate requires likely CBX2-mediated repression of bivalent ovary-determining genes, which would otherwise block testis development
	is essential for gonadal development in mammals
	CBX2 is an important epigenetic reader involved in cell proliferation and differentiation
	prominent role for CBX2 in heterochromatin homeostasis and the regulation of nuclear architecture

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

component of chromatin-associated class II polycomb repressive complex 1

INTERACTION

DNA

RNA

small molecule

protein

CBX2 promoted the proliferation, invasion and migration of Gastric cancer cells by activating the YAP1/CTNNB1 pathway

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SRA4

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function can lead to sex reversal tumoral     --over   is associated with poor prognosis in hepatocellular carcinoma (HCC) patients

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer digestive liver could be a potential target for HCC anticancer treatment cancer digestive stomach may represent a novel target for the clinical treatment of Gastric cancer cancer reproductive prostate CBX2 as an attractive drug target in lethal castration-resistant prostate cancer (CRPC)

ANIMAL & CELL MODELS