ID:CITE2_HUMAN DESCRIPTION: RecName: Full=Cbp/p300-interacting transactivator 2; AltName: Full=MSG-related protein 1; Short=MRG-1; AltName: Full=P35srj; 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. SUBUNIT: Interacts (via C-terminus) with SMAD2. Interacts (via C- terminus) with SMAD3 (via MH2 domain). Interacts with LHX2 (via LIM domains). Interacts with WT1 (By similarity). Interacts (via C-terminus) with EP300 (via CH1 domain); the interaction is stimulated in response to hypoxia. Interacts with PPARA. Interacts (via C-terminus) with TFAP2A, TFAP2B and TFAP2C. INTERACTION: Q09472:EP300; NbExp=3; IntAct=EBI-937732, EBI-447295; Q92754:TFAP2C; NbExp=2; IntAct=EBI-937732, EBI-937309; SUBCELLULAR LOCATION: Nucleus. Note=Colocalizes with EP300 in dot- like structures. INDUCTION: By hypoxia and deferoxamine. DISEASE: Defects in CITED2 are a cause of ventricular septal defect type 2 (VSD2) [MIM:614431]. VSD2 is 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. DISEASE: Defects in CITED2 are a cause of atrial septal defect type 8 (ASD8) [MIM:614433]. ASD8 is 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. SIMILARITY: Belongs to the CITED family.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q99967
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
BioCarta from NCI Cancer Genome Anatomy Project h_pparaPathway - Mechanism of Gene Regulation by Peroxisome Proliferators via PPARa(alpha)
Reactome (by CSHL, EBI, and GO)
Protein Q99967 (Reactome details) participates in the following event(s):
R-HSA-8864718 TFAP2A,TFAP2C homodimers:CITED2 binds PITX2 gene promoter R-HSA-8864307 TFAP2 homo- and heterodimers bind CITED and EP300/CREBBP R-HSA-8866906 TFAP2 (AP-2) family regulates transcription of other transcription factors R-HSA-8866907 Activation of the TFAP2 (AP-2) family of transcription factors R-HSA-8864260 Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors R-HSA-212436 Generic Transcription Pathway R-HSA-73857 RNA Polymerase II Transcription R-HSA-74160 Gene expression (Transcription)
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
