CBX2 - chromobox 2 Gene

Also Known as M33; CDCA6; SRXY5

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 84733

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Referencias	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA

Biological Process GO Annotation	Evidence	Referencias	Source
involved in development of primary sexual characteristics	IMP IMP: Inferred from mutant phenotype	19361780	GOA
involved in negative regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	21282530	GOA

Cellular Component GO Annotation	Evidence	Referencias	Source
part of PRC1 complex	IDA IDA: Inferred from direct assay	12167701	GOA
part of PcG protein complex	IDA IDA: Inferred from direct assay	21282530	GOA
located in nucleus	IDA IDA: Inferred from direct assay	21282530	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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

CBX2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Referencias
Intra	CBX2	Q14781	KRTAP10-9	Homo sapiens	P60411	Y2H Prey Pooling	25416956
Intra	CBX2	Q14781	KRTAP10-9	Homo sapiens	P60411	Validated Y2H	25416956
Intra	CBX2	Q14781	KRTAP2-3	Homo sapiens	P0C7H8	Validated Y2H	25416956
Intra	CBX2	Q14781	DHX57	Homo sapiens	Q6P158	Validated Y2H	25416956
Intra	CBX2	Q14781	MDFI	Homo sapiens	Q99750	Y2H Pooling	19060904
Intra	CBX2	Q14781	MDFI	Homo sapiens	Q99750	Y2H Array	19060904
Intra	CBX2	Q14781	RBMY1A1	Homo sapiens	P0DJD3	Validated Y2H	25416956
Intra	CBX2	Q14781	RBMY1F	Homo sapiens	Q15415	Y2H Array	25416956
Intra	CBX2	Q14781	RBMY1F	Homo sapiens	Q15415	Validated Y2H	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

CBX2 Antibodies

Referencia número	Nombre del producto	Aplicación	Reactivity
HY-P82678	CBX2 Antibody (YA2423)	WB, FC	Human, Mouse, Rat

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

Pre-clinical Phase

Bioactive Molecules (5)

Referencia número	Nombre del producto	Efecto	Pureza	Rare Diseases
HY-147058	SW2_152F	Inhibitor	99.51%	Unkown
HY-181089	CBX2-IN-1	Inhibitor	/	Unkown
HY-RS02009	CBX2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18605	Cbx2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25090	Cbx2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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