Homo sapiens Protein: CITED2
Summary
InnateDB Protein IDBP-599981.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CITED2
Protein Name Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
Synonyms ASD8; MRG-1; MRG1; P35SRJ; VSD2;
Species Homo sapiens
Ensembl Protein ENSP00000444198
InnateDB Gene IDBG-97161 (CITED2)
Protein Structure
UniProt Annotation
Function Transcriptional coactivator of the p300/CBP-mediated trancription complex. Acts as a bridge, linking TFAP2 transcription factors and the p300/CBP transcriptional coactivator complex in order to stimulate TFAP2-mediated transcriptional activation. Positively regulates TGF-beta signaling through its association with the SMAD/p300/CBP-mediated transcriptional coactivator complex. Stimulates the peroxisome proliferator- activated receptors PPARA transcriptional activity. Enhances estrogen-dependent transactivation mediated by estrogen receptors. Acts also as a transcriptional corepressor; interferes with the binding of the transcription factors HIF1A or STAT2 and the p300/CBP transcriptional coactivator complex. Participates in sex determination and early gonad development by stimulating transcription activation of SRY. Plays a role in controlling left- right patterning during embryogenesis; potentiates transcriptional activation of NODAL-mediated gene transcription in the left lateral plate mesoderm (LPM). Plays an essential role in differentiation of the adrenal cortex from the adrenogonadal primordium (AGP); stimulates WT1-mediated transcription activation thereby up-regulating the nuclear hormone receptor NR5A1 promoter activity. Associates with chromatin to the PITX2 P1 promoter region. {ECO:0000269PubMed:11581164, ECO:0000269PubMed:12586840, ECO:0000269PubMed:15051727}.
Subcellular Localization Nucleus {ECO:0000269PubMed:12586840, ECO:0000269PubMed:8901575, ECO:0000269PubMed:9887100}. Note=Colocalizes with EP300 in dot-like structures.
Disease Associations Ventricular septal defect 2 (VSD2) [MIM:614431]: A common form of congenital cardiovascular anomaly that may occur alone or in combination with other cardiac malformations. It can affect any portion of the ventricular septum, resulting in abnormal communications between the two lower chambers of the heart. Classification is based on location of the communication, such as perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular defect. Large defects that go unrepaired may give rise to cardiac enlargement, congestive heart failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal brain development, arrhythmias, and even sudden cardiac death. {ECO:0000269PubMed:16287139}. Note=The disease is caused by mutations affecting the gene represented in this entry.Atrial septal defect 8 (ASD8) [MIM:614433]: A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. {ECO:0000269PubMed:16287139}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 17 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.
Experimentally validated
Total 17 [view]
Protein-Protein 15 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 6 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0001102 RNA polymerase II activating transcription factor binding
GO:0001105 RNA polymerase II transcription coactivator activity
GO:0001106 RNA polymerase II transcription corepressor activity
GO:0003682 chromatin binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0003713 transcription coactivator activity
GO:0003714 transcription corepressor activity
GO:0005515 protein binding
GO:0035035 histone acetyltransferase binding
GO:0046332 SMAD binding
GO:0050693 LBD domain binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001568 blood vessel development
GO:0001570 vasculogenesis
GO:0001666 response to hypoxia
GO:0001701 in utero embryonic development
GO:0001829 trophectodermal cell differentiation
GO:0001841 neural tube formation
GO:0001843 neural tube closure
GO:0001889 liver development
GO:0001892 embryonic placenta development
GO:0001944 vasculature development
GO:0001947 heart looping
GO:0002089 lens morphogenesis in camera-type eye
GO:0002244 hematopoietic progenitor cell differentiation
GO:0002521 leukocyte differentiation
GO:0003151 outflow tract morphogenesis
GO:0003156 regulation of organ formation
GO:0003197 endocardial cushion development
GO:0003281 ventricular septum development
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0007179 transforming growth factor beta receptor signaling pathway
GO:0007368 determination of left/right symmetry
GO:0007417 central nervous system development
GO:0007422 peripheral nervous system development
GO:0007507 heart development
GO:0007530 sex determination
GO:0007569 cell aging
GO:0008283 cell proliferation
GO:0008584 male gonad development
GO:0009612 response to mechanical stimulus
GO:0010628 positive regulation of gene expression
GO:0010629 negative regulation of gene expression
GO:0021602 cranial nerve morphogenesis
GO:0022409 positive regulation of cell-cell adhesion
GO:0030325 adrenal gland development
GO:0030336 negative regulation of cell migration
GO:0030511 positive regulation of transforming growth factor beta receptor signaling pathway
GO:0030851 granulocyte differentiation
GO:0034405 response to fluid shear stress
GO:0035360 positive regulation of peroxisome proliferator activated receptor signaling pathway
GO:0035802 adrenal cortex formation
GO:0035914 skeletal muscle cell differentiation
GO:0043066 negative regulation of apoptotic process
GO:0043627 response to estrogen
GO:0045787 positive regulation of cell cycle
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0046697 decidualization
GO:0048536 spleen development
GO:0048538 thymus development
GO:0048596 embryonic camera-type eye morphogenesis
GO:0048821 erythrocyte development
GO:0060136 embryonic process involved in female pregnancy
GO:0060349 bone morphogenesis
GO:0060411 cardiac septum morphogenesis
GO:0060412 ventricular septum morphogenesis
GO:0060971 embryonic heart tube left/right pattern formation
GO:0061156 pulmonary artery morphogenesis
GO:0061308 cardiac neural crest cell development involved in heart development
GO:0061371 determination of heart left/right asymmetry
GO:0061428 negative regulation of transcription from RNA polymerase II promoter in response to hypoxia
GO:0070986 left/right axis specification
GO:0071363 cellular response to growth factor stimulus
GO:1900164 nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry
GO:2000020 positive regulation of male gonad development
GO:2001141 regulation of RNA biosynthetic process
Cellular Component
GO:0000790 nuclear chromatin
GO:0005634 nucleus
GO:0005737 cytoplasm
Protein Structure and Domains
PDB ID
InterPro IPR007576 CITED
PFAM PF04487
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q99967
PhosphoSite PhosphoSite-Q99967
TrEMBL D9ZGF1
UniProt Splice Variant
Entrez Gene 10370
UniGene Hs.82071
RefSeq NP_001161861
HUGO HGNC:1987
OMIM 602937
CCDS CCDS75530
HPRD 04245
IMGT
EMBL AF109161 AF129290 AL592429 BC004377 CH471051 HM015589 U65093
GenPept AAC51114 AAD10055 AAF01263 AAF01264 AAH04377 ADL14510 CAH70354 EAW47894