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Gene : CITED2 Homo sapiens

Name  ? Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 Cytological Location  6q24.1
Brief Description  Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2
Description  The protein encoded by this gene inhibits transactivation of HIF1A-induced genes by competing with binding of hypoxia-inducible factor 1-alpha to p300-CH1. Mutations in this gene are a cause of cardiac septal defects. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
  • synonyms:
  • uc003qip.3,
  • MRG-1,
  • U65093,
  • MRG1,
  • NM_001168388,
  • VSD2,
  • OTTHUMG00000015691,
  • MRG1,
  • CITED2,
  • Cbp/p300-interacting transactivator, with Glu/Asp rich carboxy-terminal domain, 2,
  • HGNC:1987,
  • P35SRJ,
  • ASD8
  • identifiers:
  • 10370,
  • ENSG00000164442,
  • CITED2

Genome feature

Region: gene ? Length: 2842  
Location: 6:139371807-139374648 reverse strand Cyto location: 6q24.1


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

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Genomics

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Proteins

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SNPs

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Disease

2 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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Expression

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Other

203 SN Ps

5 Cross References

18 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results