CITED2 Gene Summary [Human]
The protein encoded by this gene inhibits transactivation of HIF1A-induced genes by competing with binding of hypoxia-inducible factor 1-alpha to p300-CH1. Mutations in this gene are a cause of cardiac septal defects. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
Details
| Type | Protein Coding |
| Official Symbol | CITED2 |
| Official Name | Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 [Source:HGNC Symbol;Acc:HGNC:1987] |
| Ensembl ID | ENSG00000164442 |
| Bio databases IDs | |
| Aliases | Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 |
| Synonyms | AI835299, ASD8, Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2, Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2, ER154-like, Est207646, MRG-1, MSG1 RELATED, Msg2, P35SRJ, Similar to mrg1, VSD2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CITED2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SMAD binding
- transcription regulator
- transcription co-activator
- transcription co-repressor
- transcription cofactor
- transcription factor binding
- protein domain specific binding
- chromatin binding
- protein binding
- CITED
- LBD domain binding
- histone acetyltransferase binding
Pathways
Biological processes and signaling networks where the CITED2 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- endometriosis
- hypothermia
- ventricular septal defect
- double outlet right ventricle
- right pulmonary isomerism
- common atrium
- developmental disorder
- mesocardia
- congenital spindle cell rhabdomyosarcoma
- soft tissue sarcoma cancer
role in cell
- apoptosis
- expression in
- binding in
- differentiation
- migration
- morphology
- oxidation in
- cell cycle progression
- proliferation
- development
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- intracellular membrane-bounded organelle
- Cytoplasm
- cytosol
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CITED2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of cardiac muscle cell proliferation
- response to estrogen stimulus
- male gonad development
- positive regulation of peroxisome proliferator activated receptor signaling pathway
- positive regulation of cell-cell adhesion
- transforming growth factor beta receptor signaling pathway
- decidualization
- sex determination
- lens morphogenesis in camera-type eye
- hemopoietic progenitor cell differentiation
- response to hypoxia
- skeletal muscle cell differentiation
- negative regulation of transcription, DNA-dependent
- positive regulation of transcription, DNA-dependent
- heart looping
- cellular response to hypoxia
- trophectodermal cell differentiation
- determination of left/right asymmetry in lateral mesoderm
- peripheral nervous system development
- negative regulation of gene expression
- central nervous system development
- positive regulation of gene expression
- granulocyte differentiation
- negative regulation of cell migration
- cell proliferation
- pulmonary artery morphogenesis
- positive regulation of male gonad development
- cellular senescence
- uterus development
- bone morphogenesis
- outflow tract morphogenesis
- spleen development
- positive regulation of cell cycle
- endocardial cushion development
- vasculogenesis
- positive regulation of transcription from RNA polymerase II promoter
- regulation of organ formation
- embryonic placenta development
- thymus development
- nodal signaling pathway
- response to mechanical stimulus
- negative regulation of transcription from RNA polymerase II promoter
- heart development
- neural tube closure
- liver development
- response to fluid shear stress
- left/right axis specification
- embryonic heart tube left/right pattern formation
- cardiac neural crest cell development involved in heart development
- erythrocyte development
- cranial nerve morphogenesis
- embryonic process involved in female pregnancy
- left/right pattern formation
- ventricular septum morphogenesis
- determination of left/right symmetry
- negative regulation of apoptotic process
- embryonic camera-type eye morphogenesis
- adrenal cortex formation
- positive regulation of transforming growth factor beta receptor signaling pathway
Cellular Component
Where in the cell the gene product is active
- nucleus
- intracellular membrane-bounded organelle
- cytosol
- macromolecular complex
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein domain specific binding
- histone acetyltransferase binding
- protein binding
- transcription coactivator activity
- SMAD binding
- LBD domain binding
- transcription corepressor activity
- chromatin binding