CITED2: A Key Transcriptional Coactivator in Development and Disease
Comprehensive gene card for CITED2, including genomic annotations, expression, mutations, and clinical relevance.
Gene Information Card
| Symbol | CITED2 |
|---|---|
| Full Name | Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 6q24.1 |
| NCBI Gene ID | 10370 ncbi.nlm.nih.gov/gene/10370 |
| Ensembl ID | ENSG00000164442 |
| UniProt ID | O95967 |
| OMIM ID | 602937 |
| HGNC ID | 1987 |
| Aliases | MRG1, p35srj, VSD3 |
Description
CITED2 (Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2) encodes a transcriptional coactivator that interacts with the CREB-binding protein (CBP) and p300. It plays critical roles in embryonic development, particularly in heart, adrenal gland, and neural crest formation, and is implicated in cancer and congenital disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital heart defects (e.g., ventricular septal defect) | CITED2 mutations impair CBP/p300 interaction, disrupting cardiac gene expression programs | ClinVar, OMIM |
| Adrenal hypoplasia congenita | Loss of CITED2 function leads to defective adrenal development via altered transcription of steroidogenic genes | OMIM, NCBI |
| Hepatocellular carcinoma | CITED2 overexpression promotes cell proliferation and metastasis through HIF-1α pathway modulation | COSMIC, PubMed |
| Acute myeloid leukemia | CITED2 acts as a coactivator for HOXA9, driving leukemogenesis | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Adrenal gland | 18.3 | High |
| Liver | 8.1 | Low |
| Lung | 6.4 | Low |
| Brain | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver cancer) | 15.7 | High expression |
| K562 (leukemia) | 22.1 | Very high expression |
| MCF7 (breast cancer) | 9.3 | Moderate expression |
| A549 (lung cancer) | 5.8 | Low 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.499C>T (p.Arg167Trp) | Missense | <0.01% | Impaired CBP/p300 binding, associated with congenital heart defects |
| c.620G>A (p.Arg207Gln) | Missense | <0.01% | Reduced transcriptional activity, linked to adrenal hypoplasia |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt CBP/p300 interaction or protein stability (e.g., p.Arg167Trp) lead to loss of coactivator function, contributing to developmental defects.
Gain of Function (GOF)
Overexpression or amplification of CITED2 in cancers (e.g., hepatocellular carcinoma) enhances HIF-1α signaling, promoting tumor growth.
Dominant Negative (DN)
No well-characterized dominant-negative mutations reported; most pathogenic variants are loss-of-function.
View complete mutation data：
Gene Ontology (GO)
| • transcription coactivator activity | • protein binding |
| • chromatin binding | • negative regulation of transcription by RNA polymerase II |
| • positive regulation of transcription by RNA polymerase II | • embryonic heart tube development |
| • adrenal gland development |
Pathways
• HIF-1α transcription factor network
• p53 pathway
• Wnt signaling pathway
• Heart development
Protein Summary
CITED2 is a 269-amino-acid nuclear protein that functions as a transcriptional coactivator by recruiting CBP/p300 to transcription factors such as TFAP2, HOXA9, and HIF-1α. It is essential for embryonic development, particularly of the heart and adrenal glands, and its dysregulation contributes to cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CITED2 Knockout HEK293 Cell Line | EDJ-KQ7024 | Human | 10370 | Details Get a Quote |
| CITED2 Knockout A-549 Cell Line | EDJ-KQ30395 | Human | 10370 | Details Get a Quote |
| CITED2 Knockout HCT 116 Cell Line | EDJ-KQ31766 | Human | 10370 | Details Get a Quote |
| CITED2 Knockout HeLa Cell Line | EDJ-KQ31767 | Human | 10370 | Details Get a Quote |
