• Gene id: 10370

Gene Summary

• Gene Symbol: CITED2   Gene   UCSC   Ensembl
• Aliases: ASD8, MRG-1, MRG1, P35SRJ, VSD2
• Gene name: Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2
• Alternate names: cbp/p300-interacting transactivator 2, MSG-related protein 1, MSG1-related gene 1, melanocyte-specific gene 1-related gene 1,
• Gene location: 6q24.1 (139374647: 139371806)     Exons: 4     NC_000006.12
• Gene summary(Entrez): 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 vari

Protein Summary

• Protein general information: Q99967  
  • Name: Cbp/p300 interacting transactivator 2 (MSG related protein 1) (MRG 1) (P35srj)
  • Length: 270  
  • Mass: 28497
• Sequence:

  MADHMMAMNHGRFPDGTNGLHHHPAHRMGMGQFPSPHHHQQQQPQHAFNALMGEHIHYGAGNMNATSGIRHAMGP
  GTVNGGHPPSALAPAARFNNSQFMGPPVASQGGSLPASMQLQKLNNQYFNHHPYPHNHYMPDLHPAAGHQMNGTN
  QHFRDCNPKHSGGSSTPGGSGGSSTPGGSGSSSGGGAGSSNSGGGSGSGNMPASVAHVPAAMLPPNVIDTDFIDE
  EVLMSLVIEMGLDRIKELPELWLGQNEFDFMTDFVCKQQPSRVSC

• Structural information:
  • Interpro: IPR007576  
  • PDB: 1P4Q 1R8U
  • PDBsum: 1P4Q 1R8U
  • STRING: ENSP00000444198
• Other Databases: GeneCards:  CITED2  Malacards:  CITED2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0060972	left/right pattern formation	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0003713	transcription coactivator activity	IBA	molecular function
GO:0007530	sex determination	IBA	biological process
GO:0043627	response to estrogen	IDA	biological process
GO:0001666	response to hypoxia	IDA	biological process
GO:0035360	positive regulation of peroxisome proliferator activated receptor signaling pathway	IDA	biological process
GO:0003714	transcription corepressor activity	IDA	molecular function
GO:0003713	transcription coactivator activity	IDA	molecular function
GO:0003713	transcription coactivator activity	IDA	molecular function
GO:2000020	positive regulation of male gonad development	ISS	biological process
GO:0035802	adrenal cortex formation	ISS	biological process
GO:0007530	sex determination	ISS	biological process
GO:0003682	chromatin binding	ISS	molecular function
GO:0003156	regulation of animal organ formation	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	TAS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0035035	histone acetyltransferase binding	IDA	molecular function
GO:0003682	chromatin binding	ISS	molecular function
GO:0003714	transcription corepressor activity	IDA	molecular function
GO:0003713	transcription coactivator activity	IDA	molecular function
GO:0003714	transcription corepressor activity	IMP	molecular function
GO:0061428	negative regulation of transcription from RNA polymerase II promoter in response to hypoxia	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0001666	response to hypoxia	IMP	biological process
GO:0030336	negative regulation of cell migration	IMP	biological process
GO:0043066	negative regulation of apoptotic process	ISS	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IMP	biological process
GO:0000790	nuclear chromatin	ISS	cellular component
GO:0001889	liver development	ISS	biological process
GO:0003151	outflow tract morphogenesis	ISS	biological process
GO:0022409	positive regulation of cell-cell adhesion	ISS	biological process
GO:0034405	response to fluid shear stress	IMP	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0048536	spleen development	ISS	biological process
GO:0060412	ventricular septum morphogenesis	ISS	biological process
GO:0060971	embryonic heart tube left/right pattern formation	ISS	biological process
GO:0070986	left/right axis specification	ISS	biological process
GO:1900164	nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry	ISS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0032991	protein-containing complex	IMP	cellular component
GO:0019904	protein domain specific binding	IPI	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0010628	positive regulation of gene expression	IDA	biological process
GO:0010629	negative regulation of gene expression	IDA	biological process
GO:0008283	cell population proliferation	IDA	biological process
GO:0003713	transcription coactivator activity	IDA	molecular function
GO:0030511	positive regulation of transforming growth factor beta receptor signaling pathway	ISS	biological process
GO:0007507	heart development	ISS	biological process
GO:0050693	LBD domain binding	IPI	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	ISS	biological process
GO:0007507	heart development	IMP	biological process
GO:0007368	determination of left/right symmetry	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IMP	biological process
GO:0045787	positive regulation of cell cycle	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04137	Mitophagy - animal

Diseases

Associated diseases	References
Atrial septal defect	KEGG:H00546
Ventricular septal defect	KEGG:H01926
Atrial septal defect	KEGG:H00546
Ventricular septal defect	KEGG:H01926
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)