Gene
CITED2
Cbp/p300 interacting transactivator with ED-rich tail 2
- HGNC 1987↗(opens in a new tab)
- Ensembl gene ENSG00000164442↗(opens in a new tab)
- NCBI Gene 10370↗(opens in a new tab)
Summary
- Cytogenetic location
- 6q24.1
- Coordinates
- Chromosome 6: 139,371,807–139,374,648 (GRCh38)
- Exons
- 2 exons across 2.8 kb
- Protein
- 270 amino acids
- Also known as
- MRG1
- MANE Select transcript
- ENST00000367651.4NM_006079.5
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads CITED2 yet. The test sequences your whole genome, so your data includes it all the same.
How CITED2 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 2.4 kb of the gene's 2.8 kb; 813 of those bases code for the protein.
How a genome test reads CITED2
1
position in CITED2 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 2.8 kb of CITED2, introns included, not only the 2.4 kb of exons.
Traits linked to CITED2
The Human Phenotype Ontology lists these as features of the rare conditions CITED2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the cardiovascular system
- An opening in the wall separating the top two chambers of the heart
- Perimembranous ventricular septal defect
- Left-to-right shunt
- Anomalous pulmonary venous return
- Cardiac conduction abnormality
- Palpitations
- Paradoxical splitting of the second heart sound
- Right atrial enlargement
Show 27 more traits
- Systolic heart murmur
- Tetralogy of Fallot
- Abnormal heart rate
- Abnormal left ventricular function
- Abnormal mitral valve morphology
- Atrial arrhythmia
- Atrial flutter
- Automatic atrial tachycardia
- Bundle branch block
- Cardiac failure
- Complete right bundle branch block
- First degree atrioventricular block
- Increased blood pressure in blood vessels of lungs
- Junctional ectopic tachycardia
- Mitral regurgitation
- Premature atrial contractions
- Quivering upper heart chambers resulting in irregular heartbeat
- Right ventricular dilatation
- ST segment depression
- Supraventricular arrhythmia
- Supraventricular tachycardia
- Tricuspid regurgitation
- Fainting spell
- Increased pulmonary vascular resistance
- Mini stroke
- Right ventricular failure
- Stroke
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). CITED2 gene: Cbp/p300 interacting transactivator with ED-rich tail 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/cited2
Dante Labs. CITED2 gene: Cbp/p300 interacting transactivator with ED-rich tail 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/cited2
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