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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ESS2
ess-2 spliceosome associated protein
Chromosome 22 · 22q11.21|22q11.2
NCBI Gene: 8220Ensembl: ENSG00000100056.12HGNC: HGNC:16817UniProt: F8WEF8
84PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingmRNA splicing, via spliceosomecatalytic step 2 spliceosomenervous system developmentArthropathyprostate canceralcohol drinkingcoronary artery calcification
✦AI Summary

ESS2 (ess-2 spliceosome associated protein), also known as DGCR14, is a nuclear protein that functions as both a transcriptional coregulator and spliceosome component 1. The protein contains a conserved coiled-coil structure and is involved in pre-mRNA splicing through its association with spliceosomal C and C* complexes 1. ESS2 bridges transcriptional regulators and spliceosomal complexes via distinct domains - its N-terminal region (1-200 aa) associates with transcription factors like RORγ/γt, while its C-terminal region is required for snRNA interactions 2. The protein associates with U1, U4, and U6 snRNAs and is phosphorylated by CDK11 as part of spliceosome regulation 23. ESS2 is located in the 22q11.2 deletion syndrome region and plays critical roles in cell differentiation, proliferation, and T-cell survival through regulation of Myc and IL-7 signaling pathways 41. ESS2 knockout mice exhibit embryonic lethality, and the gene has been implicated in cancer progression, particularly prostate cancer, where it controls chr22 remodeling through CHD1 recruitment 5. Rare variants in ESS2 have also been associated with increased suicide risk 6.

Sources cited
1
ESS2 is involved in splicing C and C* complexes, has conserved coiled-coil structure, and causes embryonic lethality when knocked out
PMID: 40362295
2
ESS2 has distinct domains for transcription factor binding (N-terminal) and snRNA interactions (C-terminal), associates with U1, U4, U6 snRNAs
PMID: 29454968
3
ESS2 is phosphorylated by CDK11 and identified as a CDK11 substrate in spliceosome regulation
PMID: 41428738
4
ESS2 is critical for T-cell survival through Myc and IL-7 signaling pathways and is located in 22q11.2 deletion syndrome region
PMID: 35933014
5
ESS2 controls prostate cancer progression through CHD1 recruitment and chromatin remodeling
PMID: 37524814
6
Rare variants in ESS2 are associated with increased suicide risk
PMID: 34042246
Disease Associationsⓘ20
ArthropathyOpen Targets
0.13Weak
prostate cancerOpen Targets
0.08Suggestive
alcohol drinkingOpen Targets
0.04Suggestive
coronary artery calcificationOpen Targets
0.02Suggestive
atrial fibrillationOpen Targets
0.02Suggestive
22q11.2 deletion syndromeOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
schizophreniaOpen Targets
0.02Suggestive
posterior cortical atrophyOpen Targets
0.01Suggestive
autoimmune diseaseOpen Targets
0.01Suggestive
Intellectual disabilityOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
immune system diseaseOpen Targets
0.00Suggestive
Neurodevelopmental disorderOpen Targets
0.00Suggestive
colorectal carcinomaOpen Targets
0.00Suggestive
depressive disorderOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
human african trypanosomiasisOpen Targets
0.00Suggestive
renal cell adenocarcinomaOpen Targets
0.00Suggestive
infectionOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CLTCL1Protein interaction85%SOX2Protein interaction84%FRA10AC1Protein interaction83%ESR1Protein interaction82%SEAProtein interaction81%SLC25A1Protein interaction81%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
51%
Brain
46%
Lung
42%
Heart
40%
Liver
35%
Gene Interaction Network
Click a node to explore
ESS2CLTCL1SOX2FRA10AC1ESR1SEASLC25A1
PROTEIN STRUCTURE
Preparing viewer…
PDB8C6J · 2.80 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.84LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.63 [0.47–0.84]
RankingsWhere ESS2 stands among ~20K protein-coding genes
  • #5,665of 20,598
    Most Researched84
  • #7,284of 17,882
    Most Constrained (LOEUF)0.84
Genes detectedESS2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The Role of ESS2/DGCR14: Is It an Essential Factor in Splicing and Transcription?
PMID: 40362295
Int J Mol Sci · 2025
1.00
2
ESS2 controls prostate cancer progression through recruitment of chromodomain helicase DNA binding protein 1.
PMID: 37524814
Sci Rep · 2023
0.90
3
Ess2 bridges transcriptional regulators and spliceosomal complexes via distinct interacting domains.
PMID: 29454968
Biochem Biophys Res Commun · 2018
0.80
4
Biochemical and NMR study on the competition between proteins SC35, SRp40, and heterogeneous nuclear ribonucleoprotein A1 at the HIV-1 Tat exon 2 splicing site.
PMID: 16990281
J Biol Chem · 2006
0.70
5
CDK7-CDK11 axis in spliceosome regulation and pre-mRNA splicing.
PMID: 41428738
Nucleic Acids Res · 2025
0.60