UniProtKB - Q99967 (CITE2_HUMAN)
Cbp/p300-interacting transactivator 2
CITED2
Functioni
GO - Molecular functioni
- chromatin binding Source: UniProtKB
- DNA-binding transcription factor activity Source: UniProtKB
- histone acetyltransferase binding Source: BHF-UCL
- LBD domain binding Source: UniProtKB
- protein domain specific binding Source: CAFA
- transcription coactivator activity Source: UniProtKB
- transcription corepressor activity Source: UniProtKB
GO - Biological processi
- adrenal cortex formation Source: UniProtKB
- cell differentiation Source: UniProtKB-KW
- cell population proliferation Source: UniProtKB
- determination of left/right symmetry Source: UniProtKB
- embryonic heart tube left/right pattern formation Source: BHF-UCL
- heart development Source: UniProtKB
- left/right axis specification Source: BHF-UCL
- liver development Source: BHF-UCL
- negative regulation of apoptotic process Source: BHF-UCL
- negative regulation of cell migration Source: BHF-UCL
- negative regulation of gene expression Source: UniProtKB
- negative regulation of transcription, DNA-templated Source: UniProtKB
- negative regulation of transcription by RNA polymerase II Source: BHF-UCL
- negative regulation of transcription from RNA polymerase II promoter in response to hypoxia Source: BHF-UCL
- nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry Source: BHF-UCL
- outflow tract morphogenesis Source: BHF-UCL
- positive regulation of cell-cell adhesion Source: BHF-UCL
- positive regulation of cell cycle Source: UniProtKB
- positive regulation of gene expression Source: UniProtKB
- positive regulation of male gonad development Source: UniProtKB
- positive regulation of peroxisome proliferator activated receptor signaling pathway Source: UniProtKB
- positive regulation of transcription, DNA-templated Source: UniProtKB
- positive regulation of transcription by RNA polymerase II Source: BHF-UCL
- positive regulation of transforming growth factor beta receptor signaling pathway Source: UniProtKB
- regulation of animal organ formation Source: UniProtKB
- response to estrogen Source: UniProtKB
- response to fluid shear stress Source: BHF-UCL
- response to hypoxia Source: UniProtKB
- sex determination Source: UniProtKB
- spleen development Source: BHF-UCL
- ventricular septum morphogenesis Source: BHF-UCL
Keywordsi
Molecular function | Activator, Developmental protein, Repressor |
Biological process | Differentiation, Stress response, Transcription, Transcription regulation |
Enzyme and pathway databases
Reactomei | R-HSA-1234158 Regulation of gene expression by Hypoxia-inducible Factor 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-9614657 FOXO-mediated transcription of cell death genes |
SIGNORi | Q99967 |
Names & Taxonomyi
Protein namesi | Recommended name: Cbp/p300-interacting transactivator 2Alternative name(s): MSG-related protein 1 Short name: MRG-1 P35srj |
Gene namesi | Name:CITED2 Synonyms:MRG1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:1987 CITED2 |
MIMi | 602937 gene |
neXtProti | NX_Q99967 |
Subcellular locationi
Nucleus
- Nucleus 3 Publications
Note: Colocalizes with EP300 in dot-like structures.
Nucleus
- nuclear chromatin Source: BHF-UCL
- nucleoplasm Source: Reactome
- nucleus Source: UniProtKB
Other locations
- cytoplasm Source: UniProtKB
- protein-containing complex Source: CAFA
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Ventricular septal defect 2 (VSD2)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_067583 | 170 – 178 | Missing in VSD2; reduces coactivation of the TFAP2C gene to 50% of that obtained with wild-type and represses HIF1A with about 60% efficiency compared to wild-type. 1 Publication | 9 |
Atrial septal defect 8 (ASD8)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_067584 | 179 | S → GGSSTPGGS in ASD8; demonstrates only about 75% of the repressive activity of wild-type. | 1 | |
Natural variantiVAR_067585 | 198 – 199 | Missing in ASD8; demonstrates only about 75% of the repressive activity of wild-type. 1 Publication | 2 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 243 – 246 | Missing : Inhibits transactivation activity. 1 Publication | 4 | |
Mutagenesisi | 243 | L → E: Inhibits transactivation activity; when associated with E-246. 1 Publication | 1 | |
Mutagenesisi | 246 | L → E: Inhibits transactivation activity; when associated with E-243. 1 Publication | 1 |
Keywords - Diseasei
Atrial septal defect, Disease mutationOrganism-specific databases
DisGeNETi | 10370 |
MalaCardsi | CITED2 |
MIMi | 614431 phenotype 614433 phenotype |
OpenTargetsi | ENSG00000164442 |
Orphaneti | 99103 Atrial septal defect, ostium secundum type 99105 Atrial septal defect, sinus venosus type 1480 NON RARE IN EUROPE: Ventricular septal defect 101063 Situs inversus totalis 3303 Tetralogy of Fallot |
PharmGKBi | PA26524 |
Miscellaneous databases
Pharosi | Q99967 |
Polymorphism and mutation databases
BioMutai | CITED2 |
DMDMi | 21542403 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000144726 | 1 – 270 | Cbp/p300-interacting transactivator 2Add BLAST | 270 |
Proteomic databases
MassIVEi | Q99967 |
PaxDbi | Q99967 |
PeptideAtlasi | Q99967 |
PRIDEi | Q99967 |
ProteomicsDBi | 78555 [Q99967-1] 78556 [Q99967-2] |
PTM databases
iPTMneti | Q99967 |
PhosphoSitePlusi | Q99967 |
Expressioni
Inductioni
Gene expression databases
Bgeei | ENSG00000164442 Expressed in 228 organ(s), highest expression level in female gonad |
ExpressionAtlasi | Q99967 baseline and differential |
Genevisiblei | Q99967 HS |
Organism-specific databases
HPAi | CAB016157 CAB069879 |
Interactioni
Subunit structurei
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.
By similarity6 PublicationsBinary interactionsi
GO - Molecular functioni
- histone acetyltransferase binding Source: BHF-UCL
- LBD domain binding Source: UniProtKB
- protein domain specific binding Source: CAFA
Protein-protein interaction databases
BioGridi | 115649, 15 interactors |
IntActi | Q99967, 7 interactors |
MINTi | Q99967 |
STRINGi | 9606.ENSP00000444198 |
Structurei
Secondary structure
3D structure databases
SMRi | Q99967 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q99967 |
Family & Domainsi
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 21 – 57 | His-richAdd BLAST | 37 | |
Compositional biasi | 162 – 199 | Gly-richAdd BLAST | 38 | |
Compositional biasi | 219 – 258 | Asp/Glu-rich (acidic)Add BLAST | 40 |
Sequence similaritiesi
Phylogenomic databases
eggNOGi | ENOG410IH9P Eukaryota ENOG410Y09Y LUCA |
GeneTreei | ENSGT00530000063624 |
HOGENOMi | HOG000231079 |
InParanoidi | Q99967 |
KOi | K21361 |
OrthoDBi | 288077at2759 |
PhylomeDBi | Q99967 |
TreeFami | TF331915 |
Family and domain databases
DisProti | DP00356 |
InterProi | View protein in InterPro IPR007576 CITED |
PANTHERi | PTHR17045 PTHR17045, 1 hit |
Pfami | View protein in Pfam PF04487 CITED, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MADHMMAMNH GRFPDGTNGL HHHPAHRMGM GQFPSPHHHQ QQQPQHAFNA
60 70 80 90 100
LMGEHIHYGA GNMNATSGIR HAMGPGTVNG GHPPSALAPA ARFNNSQFMG
110 120 130 140 150
PPVASQGGSL PASMQLQKLN NQYFNHHPYP HNHYMPDLHP AAGHQMNGTN
160 170 180 190 200
QHFRDCNPKH SGGSSTPGGS GGSSTPGGSG SSSGGGAGSS NSGGGSGSGN
210 220 230 240 250
MPASVAHVPA AMLPPNVIDT DFIDEEVLMS LVIEMGLDRI KELPELWLGQ
260 270
NEFDFMTDFV CKQQPSRVSC
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketA0A0A0MTM3 | A0A0A0MTM3_HUMAN | Cbp/p300-interacting transactivator... | CITED2 | 275 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_067583 | 170 – 178 | Missing in VSD2; reduces coactivation of the TFAP2C gene to 50% of that obtained with wild-type and represses HIF1A with about 60% efficiency compared to wild-type. 1 Publication | 9 | |
Natural variantiVAR_067584 | 179 | S → GGSSTPGGS in ASD8; demonstrates only about 75% of the repressive activity of wild-type. | 1 | |
Natural variantiVAR_067585 | 198 – 199 | Missing in ASD8; demonstrates only about 75% of the repressive activity of wild-type. 1 Publication | 2 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_001089 | 159 – 215 | Missing in isoform 2. 1 PublicationAdd BLAST | 57 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U65093 mRNA Translation: AAC51114.1 AF129290 Genomic DNA Translation: AAF01263.1 AF129290 Genomic DNA Translation: AAF01264.1 AF109161 mRNA Translation: AAD10055.1 AL592429 Genomic DNA No translation available. BC004377 mRNA Translation: AAH04377.1 |
CCDSi | CCDS5195.1 [Q99967-1] |
RefSeqi | NP_001161860.1, NM_001168388.2 [Q99967-1] NP_001161861.2, NM_001168389.2 NP_006070.2, NM_006079.4 [Q99967-1] |
Genome annotation databases
Ensembli | ENST00000367651; ENSP00000356623; ENSG00000164442 [Q99967-1] ENST00000536159; ENSP00000442831; ENSG00000164442 [Q99967-1] ENST00000618718; ENSP00000479918; ENSG00000164442 [Q99967-2] |
GeneIDi | 10370 |
KEGGi | hsa:10370 |
UCSCi | uc003qip.3 human [Q99967-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Web resourcesi
Atlas of Genetics and Cytogenetics in Oncology and Haematology |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U65093 mRNA Translation: AAC51114.1 AF129290 Genomic DNA Translation: AAF01263.1 AF129290 Genomic DNA Translation: AAF01264.1 AF109161 mRNA Translation: AAD10055.1 AL592429 Genomic DNA No translation available. BC004377 mRNA Translation: AAH04377.1 |
CCDSi | CCDS5195.1 [Q99967-1] |
RefSeqi | NP_001161860.1, NM_001168388.2 [Q99967-1] NP_001161861.2, NM_001168389.2 NP_006070.2, NM_006079.4 [Q99967-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1P4Q | NMR | - | A | 216-259 | [»] | |
1R8U | NMR | - | A | 220-269 | [»] | |
SMRi | Q99967 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGridi | 115649, 15 interactors |
IntActi | Q99967, 7 interactors |
MINTi | Q99967 |
STRINGi | 9606.ENSP00000444198 |
PTM databases
iPTMneti | Q99967 |
PhosphoSitePlusi | Q99967 |
Polymorphism and mutation databases
BioMutai | CITED2 |
DMDMi | 21542403 |
Proteomic databases
MassIVEi | Q99967 |
PaxDbi | Q99967 |
PeptideAtlasi | Q99967 |
PRIDEi | Q99967 |
ProteomicsDBi | 78555 [Q99967-1] 78556 [Q99967-2] |
Protocols and materials databases
DNASUi | 10370 |
Genome annotation databases
Ensembli | ENST00000367651; ENSP00000356623; ENSG00000164442 [Q99967-1] ENST00000536159; ENSP00000442831; ENSG00000164442 [Q99967-1] ENST00000618718; ENSP00000479918; ENSG00000164442 [Q99967-2] |
GeneIDi | 10370 |
KEGGi | hsa:10370 |
UCSCi | uc003qip.3 human [Q99967-1] |
Organism-specific databases
CTDi | 10370 |
DisGeNETi | 10370 |
GeneCardsi | CITED2 |
HGNCi | HGNC:1987 CITED2 |
HPAi | CAB016157 CAB069879 |
MalaCardsi | CITED2 |
MIMi | 602937 gene 614431 phenotype 614433 phenotype |
neXtProti | NX_Q99967 |
OpenTargetsi | ENSG00000164442 |
Orphaneti | 99103 Atrial septal defect, ostium secundum type 99105 Atrial septal defect, sinus venosus type 1480 NON RARE IN EUROPE: Ventricular septal defect 101063 Situs inversus totalis 3303 Tetralogy of Fallot |
PharmGKBi | PA26524 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG410IH9P Eukaryota ENOG410Y09Y LUCA |
GeneTreei | ENSGT00530000063624 |
HOGENOMi | HOG000231079 |
InParanoidi | Q99967 |
KOi | K21361 |
OrthoDBi | 288077at2759 |
PhylomeDBi | Q99967 |
TreeFami | TF331915 |
Enzyme and pathway databases
Reactomei | R-HSA-1234158 Regulation of gene expression by Hypoxia-inducible Factor 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-9614657 FOXO-mediated transcription of cell death genes |
SIGNORi | Q99967 |
Miscellaneous databases
ChiTaRSi | CITED2 human |
EvolutionaryTracei | Q99967 |
GeneWikii | CITED2 |
GenomeRNAii | 10370 |
Pharosi | Q99967 |
PROi | PR:Q99967 |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000164442 Expressed in 228 organ(s), highest expression level in female gonad |
ExpressionAtlasi | Q99967 baseline and differential |
Genevisiblei | Q99967 HS |
Family and domain databases
DisProti | DP00356 |
InterProi | View protein in InterPro IPR007576 CITED |
PANTHERi | PTHR17045 PTHR17045, 1 hit |
Pfami | View protein in Pfam PF04487 CITED, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | CITE2_HUMAN | |
Accessioni | Q99967Primary (citable) accession number: Q99967 Secondary accession number(s): O95426, Q5VTF4 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | December 15, 1998 |
Last sequence update: | June 20, 2002 | |
Last modified: | October 16, 2019 | |
This is version 180 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Complete proteome, Reference proteomeDocuments
- Human chromosome 6
Human chromosome 6: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - SIMILARITY comments
Index of protein domains and families - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references