CITED2
entrez
10370
canonical
uniprot
Q99967
canonical
ensembl
ENSG00000164442
resolver
ensp
ENSP00000356623
resolver
ensp
ENSP00000442831
resolver
ensp
ENSP00000444198
resolver
enst
ENST00000537332
resolver
genesymbol
CITED2
resolver
genesymbol_syn
MRG1
resolver
hgnc
HGNC:1987
resolver
uniprot
A0A0A0MTM3
resolver
uniprot
O95426
resolver
uniprot
Q5VTF4
resolver
uniprot_entry
A0A0A0MTM3_HUMAN
resolver
uniprot_entry
CITE2_HUMAN
resolver
uniprot_sec
O95426
resolver
uniprot_sec
Q5VTF4
resolver
amino_acid_sequence
MADHMMAMNHGRFPDGTNGLHHHPAHRMGMGQFPSPHHHQQQQPQHAFNALMGEHIHYGAGNMNATSGIRHAMGPGTVNGGHPPSALAPAARFNNSQFMGPPVASQGGSLPASMQLQKLNNQYFNHHPYPHNHYMPDLHPAAGHQMNGTNQHFRDCNPKHSGGSSTPGGSGGSSTPGGSGSSSGGGAGSSNSGGGSGSGNMPASVAHVPAAMLPPNVIDTDFIDEEVLMSLVIEMGLDRIKELPELWLGQNEFDFMTDFVCKQQPSRVSC
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:16287139}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 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:0000269|PubMed:16287139}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcriptional coactivator of the p300/CBP-mediated transcription 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. Also acts 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:0000269|PubMed:11581164, ECO:0000269|PubMed:12586840, ECO:0000269|PubMed:15051727}.
uniprot
proteins
mass_dalton
28497
uniprot
proteins
mutagenesis
MUTAGEN 243..246; /note="Missing: Inhibits transactivation activity."; /evidence="ECO:0000269|PubMed:12778114"; MUTAGEN 243; /note="L->E: Inhibits transactivation activity; when associated with E-246."; /evidence="ECO:0000269|PubMed:12778114"; MUTAGEN 246; /note="L->E: Inhibits transactivation activity; when associated with E-243."; /evidence="ECO:0000269|PubMed:12778114
uniprot
proteins
protein_family
CITED family
uniprot
proteins
pubmed
10552932
uniprot
proteins
pubmed
11581164
uniprot
proteins
pubmed
11694877
uniprot
proteins
pubmed
12586840
uniprot
proteins
pubmed
12778114
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14594809
uniprot
proteins
pubmed
15051727
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16287139
uniprot
proteins
pubmed
33214242
uniprot
proteins
pubmed
8901575
uniprot
proteins
pubmed
9887100
uniprot
proteins
sequence_length
270
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12586840, ECO:0000269|PubMed:8901575, ECO:0000269|PubMed:9887100}. Note=Colocalizes with EP300 in dot-like structures.
uniprot
proteins