| basic FUNCTION
| cytokine-inducible transcription factor with transformation activity, involved in the recruitement of p300/CBP by hypoxia-inducible factor HIF1A and MRG1 (MSG1-related gene) |
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controlling left-right patterning and heart development through NODAL/PITX2 pathway |
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coactivator of PPARA and that both proteins may participate in signaling cascades of hypoxic response and angiogenesis |
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regulating colon cancer invasion and might be a target for HDAC inhibitor-based intervention of colon cancer |
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interfering with the binding of transcription factors HIF-1a and STAT2 to p300/CBP |
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involved in response to stress |
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implicated in control of cell growth and malignant transformation |
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important regulator of transforming growth factor (TGF)-beta signaling |
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functioning as a Smad3/p300-interacting transcriptional co-activator in modulating the expression of MMP9, which could affect tumor cell invasion mediated by TGF-beta |
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playing a role in adrenal growth and possibly in adrenal tumorigenesis  |
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non-DNA binding protein that functions as a context dependent transcriptional co-activator or repressor |
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functions to ensure elevated NR5A1 and SRY levels which provide a robust activation of the male pathway as well as proper development |
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critical upstream regulator of fracture healing |
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may act as a mechanosensitive molecular switch regulating cartilage matrix breakdown |
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role in tissues of the embryo vital for left–right patterning (the node and lateral plate mesoderm) |
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role as a potentiator of bone morphogenetic protein (BMP) signalling, counteracting the initiation of NODAL expression in the lateral plate mesoderm |
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cardiac transcription factor, plays an important role in cardiac development |
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may play a role in the development of congenital heart disease (CHD) |
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plays a role in left–right patterning through the NODAL-PITX2C pathway |
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potential role of CITED2 in the remodeling of chromatin structures |
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critical role of CITED2 in cardiomyocyte differentiation by affecting the expression of NFATC4 leading to down-regulation of NKX2.5 and beta-MHC cardiomyocyte genes |
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functions as a molecular switch of cytokine-induced proliferation and quiescence |
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functions as a transcriptional co-activator of ESR1 in breast cancer cells and its increased expression in tumors may result in estrogen-independent ER activation, thereby reducing estrogen dependence and response to anti-estrogen therapy |
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is an essential regulator for HSC quiescence, apoptosis, and function |
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is a transcriptional co-factor with important roles in many organs of the developing mammalian embryo |
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its overexpression sustains ESC pluripotency |
CELLULAR PROCESS
| cell cycle
|
 |
nucleotide, transcription, regulation
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| PHYSIOLOGICAL PROCESS
|
development
|
| text
| determination of left/right symmetry |
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heart development |
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positive regulation of cell cycle |
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| role during sex determination through a WT1/NR5A1 regulatory pathway |
| a component
| CITED2-TFAP2C complex controls lung maturation by regulating CEBPA expression |
| protein
| coactivator of TFAP2 |
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interacting directly with PPARA in the presence or absence of ligand predominantly via the ligand binding domain of the nuclear receptor |
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binding to the CH1 region of p300/CBP |
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interacts with WT1 to stimulate the expression of NR5A1 in the adrenogonadal primordium to ensure adrenal development |
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role for transcription factor LMO4 in thymus development through genetic interaction with CITED2 |
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may interact with both NODAL and BMP signalling in establishing laterality |
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EP300 interacting transcriptional modulator that functions as an important modulator in cardiac development |
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controls embryonic stem cells (ESCs) pluripotency and differentiation via direct regulation of POU5F1 gene expression. |
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SPI1 is a critical regulator of CITED2, as SPI1 repressed CITED2 expression in a DNMT3A/B-dependent manner in normal CD34+ cells |
| induced by
| hypoxia and deferoxamine |
| corresponding disease(s)
|
ASD8
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| Other morbid association(s)
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| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| constitutional
| germinal mutation
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mutation cluster in the serine-glycine rich junction, reducing the trans repression of HIF1A in congenital heart defect (VSD, ASD, malrotation of the great arteries) | | tumoral
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| --low
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| |
might act as a repressor of colon cancer progression | | constitutional
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| --over
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enhanced TGF-beta-mediated MMP9 promoter reporter activity | | constitutional
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| --low
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rapidly within 3 h after osteotomy, associated with a dramatic increase in matrix metalloproteinases, namely MMPs 2, 3, 9, and 13, as well as genes regulating angiogenesis and osteogenesis | | constitutional
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| loss of function
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in syncytiotrophoblasts results in the subcellular mislocalization of one of the major lactate transporters in the placenta, SLC16A3 | | constitutional
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| deletion
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deletion of CITED2 in mESCs results in abnormal mitochondrial morphology and impaired glucose metabolism, which correlates with a defective cell fate decision | | tumoral
|
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| --over
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in breast cancer with poor survival | |
| Susceptibility
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to congenital heart defects |
| Variant & Polymorphism
SNP
| missense mutations G184S and S192G, decreased cooperation between CITED2 and TFAP2C in the transactivation of the PITX2 gene, and are responsible for tetralogy of Fallot and aortic stenosis, respectively |
| 
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Candidate gene
Marker
Therapy target
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| System | Type | Disorder | Pubmed |
|---|
| cancer | digestive | colon | |
| target for nutrition-based chemoprevention and chemotherapy for colon cancer |
| | | |
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| Cited2-null mice die during gestation with fully penetrant heart defects and partially penetrant laterality defects | |
mice lacking Cited2 die in utero, and they show various cardiac malformations including atrial and ventricular septal defects |
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loss of Cited2 in mice results in cardiac and aortic arch malformations, adrenal agenesis, neural tube and placental defects, and partially penetrant defects in left-right patterning |
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embryonic growth retardation observed in Cited2 null embryos is likely due in part to a disorganized embryonic capillary network, and in part due to abnormalities of the nutrient transport functions of the feto-maternal interface |
