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Gene : CBX2 Homo sapiens

Name  ? chromobox 2 Cytological Location  17q25.3
Brief Description  chromobox 2
Description  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]
  • synonyms:
  • M33,
  • HGNC:1552,
  • CDCA6,
  • OTTHUMG00000177463,
  • chromobox homolog 2,
  • BG354579,
  • BC004252,
  • CDCA6,
  • uc002jxc.4,
  • cell division cycle associated 6,
  • chromobox homolog 2 (Drosophila Pc class),
  • CBX2,
  • Pc class homolog (Drosophila),
  • MGC10561,
  • SRXY5,
  • NM_032647
  • identifiers:
  • 84733,
  • ENSG00000173894,
  • CBX2

Genome feature

Region: gene ? Length: 11730  
Location: 17:79776254-79787983 Cyto location: 17q25.3


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

31 SN Ps

5 Cross References

18 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results