HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SET
SET nuclear proto-oncogene
Chromosome 9 Β· 9q34.11
NCBI Gene: 6418Ensembl: ENSG00000119335.18HGNC: HGNC:10760UniProt: A0A8J8YYJ1
335PubMed Papers
21Diseases
0Drugs
36Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedOncogene
RESEARCH IMPACT
Highly Studied
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
negative regulation of neuron apoptotic processnucleusnucleoplasmprotein bindingintellectual disability, autosomal dominant 58Intellectual disabilityneurodegenerative diseasegenetic disorder
✦AI Summary

SET (SET nuclear proto-oncogene) is a multifunctional protein with critical roles in apoptosis, transcription, and chr9 regulation. As an anti-apoptotic factor, SET isoform 2 inhibits granzyme A-activated DNase NME1 during cytotoxic T-lymphocyte-induced apoptosis; cleavage of SET by GZMA disrupts this protective interaction. SET functions as a potent inhibitor of protein phosphatase 2A and histone acetyltransferase (HAT) activity, particularly targeting histone H4 acetylation, thereby silencing HAT-dependent transcription and preventing active DNA demethylation. SET promotes adenoviral DNA replication, with isoform 2 demonstrating higher specific activity. In cancer biology, SET overexpression correlates with unfavorable prognosis in lung tumors 1. SET interacts with transcription factor ZBTB11 to promote lung cancer cell migration and invasion through MMP9 transcriptional activation and PRRG2 repression, driving metastasis through YAP1 pathway activation 1. Additionally, SET-NUP214 fusion proteins interact with MLL to enhance HoxA10 gene promoter activity in T-cell acute lymphoblastic leukemia 2. These multifaceted functions position SET as a key regulator of cellular survival, gene expression, and cancer progression. Notably, mutations in SET cause intellectual developmental disorder, autosomal dominant 58, highlighting its importance in normal neurological development.

Sources cited
1
SET overexpression correlates with unfavorable prognosis in lung tumors; SET-ZBTB11 complex promotes lung cancer metastasis through MMP9 activation and YAP1 pathway regulation
PMID: 38355937
2
SET-NUP214 fusion protein interacts with MLL to cooperatively enhance HoxA10 gene promoter activity in T-cell acute lymphoblastic leukemia
PMID: 34320268
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
intellectual disability, autosomal dominant 58Open Targets
0.77Strong
Intellectual disabilityOpen Targets
0.50Moderate
neurodegenerative diseaseOpen Targets
0.49Moderate
genetic disorderOpen Targets
0.49Moderate
acute lymphoblastic leukemiaOpen Targets
0.38Weak
T-cell acute lymphoblastic leukemiaOpen Targets
0.37Weak
autosomal dominant non-syndromic intellectual disabilityOpen Targets
0.37Weak
Global developmental delayOpen Targets
0.34Weak
acute myeloid leukemiaOpen Targets
0.30Weak
B-cell acute lymphoblastic leukemiaOpen Targets
0.28Weak
acute leukemia of ambiguous lineageOpen Targets
0.28Weak
hepatocellular carcinomaOpen Targets
0.22Weak
esophageal squamous cell carcinomaOpen Targets
0.19Weak
lung adenocarcinomaOpen Targets
0.19Weak
oral squamous cell carcinomaOpen Targets
0.19Weak
osteosarcomaOpen Targets
0.19Weak
chronic lymphocytic leukemiaOpen Targets
0.19Weak
colorectal adenocarcinomaOpen Targets
0.19Weak
prostate adenocarcinomaOpen Targets
0.19Weak
lung carcinomaOpen Targets
0.19Weak
Intellectual developmental disorder, autosomal dominant 58UniProt
Pathogenic Variants36
NM_003011.4(SET):c.204dup (p.Gln69fs)Pathogenic
Intellectual disability, autosomal dominant 58
β˜…β˜…β˜†β˜†2025β†’ Residue 69
NM_003011.4(SET):c.130_133del (p.Arg44fs)Pathogenic
Inborn genetic diseases|Intellectual disability, autosomal dominant 58|not provided|Global developmental delay|Intellectual disability|SET-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 44
NM_003011.4(SET):c.313C>T (p.His105Tyr)Likely pathogenic
Intellectual disability, autosomal dominant 58|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 105
NM_003011.4(SET):c.663+5G>CPathogenic
not provided|Intellectual disability, autosomal dominant 58
β˜…β˜…β˜†β˜†2021
NM_003011.4(SET):c.493-1G>APathogenic
Intellectual disability, autosomal dominant 58
β˜…β˜†β˜†β˜†2026
NM_003011.4(SET):c.1A>G (p.Met1Val)Pathogenic
Intellectual disability, autosomal dominant 58
β˜…β˜†β˜†β˜†2025β†’ Residue 1
NM_003011.4(SET):c.106_109del (p.Asp36fs)Pathogenic
Intellectual disability, autosomal dominant 58
β˜…β˜†β˜†β˜†2025β†’ Residue 36
NM_003011.4(SET):c.77_78del (p.Lys26fs)Pathogenic
Intellectual disability, autosomal dominant 58
β˜…β˜†β˜†β˜†2025β†’ Residue 26
NM_003011.4(SET):c.328_332del (p.Val110fs)Pathogenic
Intellectual disability, autosomal dominant 58
β˜…β˜†β˜†β˜†2025β†’ Residue 110
NM_003011.4(SET):c.493-3_504delPathogenic
Intellectual disability, autosomal dominant 58
β˜…β˜†β˜†β˜†2025
NM_003011.4(SET):c.314A>G (p.His105Arg)Likely pathogenic
Intellectual disability, autosomal dominant 58
β˜…β˜†β˜†β˜†2025β†’ Residue 105
NM_003011.4(SET):c.729_732del (p.Glu243fs)Pathogenic
Intellectual disability, autosomal dominant 58
β˜…β˜†β˜†β˜†2025β†’ Residue 243
NM_003011.4(SET):c.644dup (p.Asn215fs)Pathogenic
Intellectual disability, autosomal dominant 58
β˜…β˜†β˜†β˜†2025β†’ Residue 215
NM_003011.4(SET):c.639G>A (p.Trp213Ter)Pathogenic
Intellectual disability, autosomal dominant 58
β˜…β˜†β˜†β˜†2025β†’ Residue 213
NM_003011.4(SET):c.442_443del (p.Ser148fs)Pathogenic
Intellectual disability, autosomal dominant 58
β˜…β˜†β˜†β˜†2024β†’ Residue 148
NM_003011.4(SET):c.193C>T (p.Gln65Ter)Likely pathogenic
Intellectual disability, autosomal dominant 58
β˜…β˜†β˜†β˜†2024β†’ Residue 65
NM_003011.4(SET):c.599del (p.Gly200fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2024β†’ Residue 200
NM_003011.4(SET):c.452del (p.Pro151fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2024β†’ Residue 151
NM_003011.4(SET):c.78_81del (p.Lys26fs)Pathogenic
not provided|Intellectual disability, autosomal dominant 58
β˜…β˜†β˜†β˜†2023β†’ Residue 26
NM_003011.4(SET):c.103_104del (p.His34_Ile35insTer)Likely pathogenic
Intellectual disability, autosomal dominant 58
β˜…β˜†β˜†β˜†2023β†’ Residue 34
View on ClinVar β†—
Related Genes
ANP32AProtein interaction100%SRSF3Protein interaction99%XPO1Protein interaction96%TP53Protein interaction94%HMGB2Protein interaction91%NCLProtein interaction91%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
33%
Ovary
30%
Lung
29%
Heart
28%
Liver
20%
Gene Interaction Network
Click a node to explore
SETANP32ASRSF3XPO1TP53HMGB2NCL
PROTEIN STRUCTURE
Preparing viewer…
PDB7MTO Β· 1.79 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.17Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.00 [0.00–0.17]
RankingsWhere SET stands among ~20K protein-coding genes
  • #968of 20,598
    Most Researched335 Β· top 5%
  • #1,636of 5,498
    Most Pathogenic Variants36
  • #283of 17,882
    Most Constrained (LOEUF)0.17 Β· top 5%
Genes detectedSET
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Oncoprotein SET-associated transcription factor ZBTB11 triggers lung cancer metastasis.
PMID: 38355937
Nat Commun Β· 2024
1.00
2
Cancer progression by the okadaic acid class of tumor promoters and endogenous protein inhibitors of PP2A, SET and CIP2A.
PMID: 37097392
J Cancer Res Clin Oncol Β· 2023
0.96
3
Core knowledge.
PMID: 11280937
Am Psychol Β· 2000
0.90
4
Computation and application of tissue-specific gene set weights.
PMID: 29659714
Bioinformatics Β· 2018
0.80
5
Attentional Set-Shifting Across Species.
PMID: 26873018
Curr Top Behav Neurosci Β· 2016
0.70