2. Gene
  3. CBX2 - chromobox 2 Gene

CBX2 - chromobox 2 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
16189514 GOA
Biological Process GO Annotation Evidence Reference 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 Reference 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

Chromo: Chromo (CHRromatin Organisation MOdifier) domain (14 - 61)

  • 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 Reference
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

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 Pre-designed Sets / 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