InnateDB Protein
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IDBP-584186.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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CITED2
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Protein Name
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Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
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Synonyms
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ASD8; MRG-1; MRG1; P35SRJ; VSD2;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000442831
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InnateDB Gene
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IDBG-97161 (CITED2)
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Protein Structure
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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}.
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Subcellular Localization |
Nucleus {ECO:0000269PubMed:12586840, ECO:0000269PubMed:8901575, ECO:0000269PubMed:9887100}. Note=Colocalizes with EP300 in dot-like structures.
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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.
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Tissue Specificity |
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
15
[view]
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Protein-DNA |
2
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
6 [view]
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Molecular Function |
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Biological Process |
GO:0000122
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negative regulation of transcription from RNA polymerase II promoter
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GO:0001666
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response to hypoxia
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GO:0001889
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liver development
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GO:0003151
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outflow tract morphogenesis
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GO:0003156
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regulation of organ formation
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GO:0006351
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transcription, DNA-templated
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GO:0006355
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regulation of transcription, DNA-templated
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GO:0007368
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determination of left/right symmetry
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GO:0007507
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heart development
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GO:0007530
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sex determination
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GO:0008283
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cell proliferation
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GO:0010628
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positive regulation of gene expression
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GO:0010629
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negative regulation of gene expression
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GO:0022409
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positive regulation of cell-cell adhesion
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GO:0030336
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negative regulation of cell migration
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GO:0030511
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positive regulation of transforming growth factor beta receptor signaling pathway
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GO:0034405
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response to fluid shear stress
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GO:0035360
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positive regulation of peroxisome proliferator activated receptor signaling pathway
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GO:0035802
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adrenal cortex formation
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GO:0043066
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negative regulation of apoptotic process
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GO:0043627
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response to estrogen
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GO:0045787
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positive regulation of cell cycle
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GO:0045892
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negative regulation of transcription, DNA-templated
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GO:0045893
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positive regulation of transcription, DNA-templated
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GO:0045944
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positive regulation of transcription from RNA polymerase II promoter
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GO:0048536
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spleen development
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GO:0060412
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ventricular septum morphogenesis
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GO:0060971
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embryonic heart tube left/right pattern formation
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GO:0061428
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negative regulation of transcription from RNA polymerase II promoter in response to hypoxia
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GO:0070986
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left/right axis specification
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GO:1900164
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nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry
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GO:2000020
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positive regulation of male gonad development
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GO:2001141
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regulation of RNA biosynthetic process
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Cellular Component |
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PDB ID |
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InterPro |
IPR007576
CITED
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PFAM |
PF04487
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q99967
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PhosphoSite |
PhosphoSite-Q99967
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TrEMBL |
D9ZGF1
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UniProt Splice Variant |
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Entrez Gene |
10370
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UniGene |
Hs.82071
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RefSeq |
NP_001161860
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HUGO |
HGNC:1987
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OMIM |
602937
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CCDS |
CCDS5195
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HPRD |
04245
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IMGT |
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EMBL |
AF109161
AF129290
AL592429
BC004377
CH471051
HM015589
U65093
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GenPept |
AAC51114
AAD10055
AAF01263
AAF01264
AAH04377
ADL14510
CAH70354
EAW47894
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