CITED4: Cbp/p300-Interacting Transactivator with Glu/Asp-Rich Carboxy-Terminal Domain 4
Transcriptional coactivator involved in cardiac development, metabolism, and cancer
Gene Information Card
| Symbol | CITED4 |
|---|---|
| Full Name | Cbp/p300 Interacting Transactivator With Glu/Asp Rich Carboxy-Terminal Domain 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p34.2 |
| NCBI Gene ID | 163732 ncbi.nlm.nih.gov/gene/163732 |
| Ensembl ID | ENSG00000162627 |
| UniProt ID | Q96RK0 |
| OMIM ID | 611448 |
| HGNC ID | 14205 |
| Aliases | MRG1, p35srj |
Description
CITED4 is a member of the CITED family of transcriptional coactivators that interact with CBP/p300. It functions as a coactivator of transcription factors such as TFAP2 and SMAD, and is involved in cell proliferation, differentiation, and survival. CITED4 plays roles in cardiac development, metabolic regulation, and tumor suppression in certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | CITED4 acts as a tumor suppressor; loss of expression correlates with poor prognosis | PMID: 22926525 |
| Cardiac hypertrophy | CITED4 expression is induced by stress and protects against pathological hypertrophy | PMID: 20081100 |
| Colorectal cancer | CITED4 downregulation promotes metastasis via EMT | PMID: 27323850 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 8.3 | Low |
| Kidney | 6.1 | Low |
| Liver | 4.2 | Low |
| Lung | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 5.2 | Basal expression |
| HCT116 (colorectal) | 7.1 | Moderate expression |
| HEK293 (embryonic kidney) | 9.8 | High expression |
| H9c2 (cardiomyoblast) | 11.3 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Loss of start codon; likely loss of function |
| c.205C>T (p.Arg69Trp) | missense | <0.01% | Unknown significance |
| c.340_341del (p.Leu114fs) | frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and start-loss mutations lead to truncated or absent protein, reducing coactivator activity.
Gain of Function (GOF)
No gain-of-function mutations reported in curated databases.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• CITED4 interacts with CBP/p300 in the TFAP2 signaling pathway
• CITED4 modulates SMAD-dependent TGF-beta signaling
Protein Summary
CITED4 is a 226-amino acid nuclear protein containing a conserved C-terminal domain that mediates binding to CBP/p300. It lacks intrinsic DNA-binding activity but acts as a bridge between transcription factors and the transcriptional machinery. The protein is highly expressed in heart and skeletal muscle, and its expression is regulated by hypoxia and growth factors. CITED4 has been implicated in cardiac protection, metabolic homeostasis, and tumor suppression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CITED4 Knockout HEK293 Cell Line | EDJ-KQ12928 | Human | 163732 | Details Get a Quote |
| CITED4 Knockout A-549 Cell Line | EDJ-KQ42140 | Human | 163732 | Details Get a Quote |
| CITED4 Knockout HeLa Cell Line | EDJ-KQ42141 | Human | 163732 | Details Get a Quote |
| CITED4 Knockout HCT 116 Cell Line | EDJ-KQ75745 | Human | 163732 | Details Get a Quote |
