CBX2 - chromobox 2 Gene

Homo sapiens

Also known as M33; CDCA6; SRXY5

Gene ID: 84733 | Gene type: protein coding

About CBX2

Cytogenetic location: 17q25.3 Genomic coordinates (GRCh38): 17:79,777,311-79,787,983 (from NCBI)

This gene has 3 transcripts (splice variants), 251 orthologues, 8 paralogues and is associated with 2 phenotypes. Biased expression in testis (RPKM 5.1), placenta (RPKM 1.0) and 13 other tissues.

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]

CBX2 Products(2)

mRNA	Protein	Name
NM_005189.3	NP_005180.1	chromobox protein homolog 2 isoform 1
NM_032647.4	NP_116036.1	chromobox protein homolog 2 isoform 2

CBX2 Protein Structure

Chromo

0
100
200
300
400
500
532 a.a.

Protein Preferred Names

Protein Names

chromobox protein homolog 2

Pc class homolog

Related Diseases

Diseases

Alias

46,Xy Sex Reversal 5

SRXY5	46,Xy Sex Reversal, Cbx2-Related
46,Xy Gonadal Dysgenesis, Complete, Cbx2-Related	Sex Reversal, Xy, Cbx2-Related
Disorder Of Sex Development, 46,Xy, Cbx2-Related	46xy Sex Reversal 5
46,Xy Gonadal Dysgenesis Complete Cbx2-Related	46,Xy Sex Reversal Cbx2-Related
Disorder Of Sex Development 46,Xy Cbx2-Related	Sex Reversal Xy Cbx2-Related
46, Xy Sex Reversal 5

46,Xy Sex Reversal

Swyer Syndrome	Pure Gonadal Dysgenesis 46,Xy
Gonadal Dysgenesis, Xy Female Type	Gonadal Dysgenesis, 46,Xy
46,Xy Cgd	46,Xy Complete Gonadal Dysgenesis
46,Xy Pure Gonadal Dysgenesis	46 Xy Gonadal Dysgenesis
46, Xy Cgd	46, Xy Complete Gonadal Dysgenesis
46, Xy Pure Gonadal Dysgenesis	Xy Pure Gonadal Dysgenesis
Female With 46,Xy Karyotype	Xy Females

Gonadal Dysgenesis

Gonadal Dysgenesis Syndrome

Turner Syndrome

Disorder Of Sexual Development

Disorder Of Sex Development	Disorders Of Sex Development
Sex Development Disorder	Sex Differentiation Disease
Dsd	Sex Differentiation Disorders

Pontocerebellar Hypoplasia, Type 13

PCH13	Pontocerebellar Hypoplasia Type 13
Pontocerebellar Hypoplasia 13	Doid:0112332
Hypoplasia, Pontocerebellar, Type 13

Primary Hyperoxaluria

Hyperoxaluria	Hyperoxaluria, Primary
Oxalosis	Primary Oxalosis
Congenital Oxaluria	D-Glycerate Dehydrogenase Deficiency
Glyceric Aciduria	Glycolic Aciduria
Hepatic Agt Deficiency	Oxaluria, Primary
Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency	Primary Oxaluria
Hyperoxaluria Primary	Primary Hyperoxaluria Type 2
Primary Hyperoxaluria, Type I

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-147058	SW2_152F	Inhibitor	99.77%	Unkown
HY-RS02009	CBX2 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	CBX2	MGD	MGI:88289
Bos taurus	CBX2	VGNC	VGNC:26817
Felis catus	CBX2	VGNC	VGNC:98769
Canis familiaris	CBX2	VGNC	VGNC:51933
Macaca mulatta	CBX2	VGNC	VGNC:99127
Rattus norvegicus	CBX2	RGD	RGD:1588561
Others	CBX2	NCBI

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