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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
EVI2A
ecotropic viral integration site 2A
Chromosome 17 Β· 17q11.2
NCBI Gene: 2123Ensembl: ENSG00000126860.13HGNC: HGNC:3499UniProt: P22794
24PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Oncogene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingplasma membranetransmembrane signaling receptor activitymembranetype 2 diabetes mellitusneurofibromatosis type 1diabetes mellitusAbnormality of the skeletal system
✦AI Summary

EVI2A is a transmembrane protein located within intron 27b of the NF1 tumor suppressor gene on chromosome 17.2 1. The protein functions as part of a cell-surface receptor, likely complexing with itself and/or other proteins within the membrane 1. EVI2A demonstrates significant roles in multiple cancer types. In kidney renal clear cell carcinoma, elevated EVI2A expression correlates with advanced tumor stage, poor survival outcomes (AUC=0.906 for diagnostic accuracy), and associations with immune checkpoint activation 2. In pancreatic adenocarcinoma, EVI2A promotes gemcitabine resistance through the SMYD2-H3K36me2 epigenetic axis while suppressing T cell effector activation and promoting M2 macrophage-mediated immune evasion 3. Similarly, in osteosarcoma, high EVI2A expression predicts poor prognosis and activates the MEK/ERK signaling pathway to enhance cell proliferation and migration 4. Mendelian randomization analysis identified EVI2A as causally associated with endometrial cancer risk 5. EVI2A may also have roles in neurofibromatosis type 1-related tumorigenesis and leukemia 6. These findings establish EVI2A as a promising biomarker and therapeutic target across multiple malignancies.

Sources cited
1
EVI2A upregulation in KIRC correlates with tumor grade, TNM stage, poor survival, immune cell infiltration, and immunotherapy sensitivity
PMID: 39449801
2
EVI2A promotes gemcitabine resistance in pancreatic adenocarcinoma through SMYD2-mediated H3K36me2 modification and suppresses T cell activation
PMID: 37812330
3
High EVI2A expression in osteosarcoma is associated with poor prognosis and activates MEK/ERK pathway to promote cell proliferation and migration
PMID: 31774019
4
EVI2A shows negative causal association with endometrial cancer risk in Mendelian randomization analysis
PMID: 39401154
5
EVI2A is a membrane protein predicted to complex with itself and/or other proteins to function as part of a cell-surface receptor
PMID: 1903909
6
EVI2A and EVI2B are transmembrane proteins embedded in NF1 intron 27b with potential roles in NF1-related tumorigenesis and leukemia
PMID: 37584733
7
EVI2A is among functional genes in the NF1 tumor suppressor gene region on chromosome 17
PMID: 12696059
Disease Associationsβ“˜20
type 2 diabetes mellitusOpen Targets
0.36Weak
neurofibromatosis type 1Open Targets
0.34Weak
diabetes mellitusOpen Targets
0.30Weak
Abnormality of the skeletal systemOpen Targets
0.28Weak
osteoarthritis, hipOpen Targets
0.24Weak
smoking initiationOpen Targets
0.23Weak
substance-related disorderOpen Targets
0.23Weak
osteoarthritisOpen Targets
0.22Weak
endometrial cancerOpen Targets
0.21Weak
hemorrhoidOpen Targets
0.21Weak
Dupuytren ContractureOpen Targets
0.18Weak
HerniaOpen Targets
0.16Weak
insomniaOpen Targets
0.05Suggestive
total hip arthroplastyOpen Targets
0.05Suggestive
cholelithiasisOpen Targets
0.04Suggestive
degeneration of macula and posterior poleOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.04Suggestive
clear cell renal carcinomaOpen Targets
0.03Suggestive
type 1 diabetes mellitusOpen Targets
0.03Suggestive
osteoarthritis, kneeOpen Targets
0.03Suggestive
Pathogenic Variants1
NM_014210.4(EVI2A):c.-4558_-4531dupPathogenic
not provided
β˜…β˜†β˜†β˜†2025
View on ClinVar β†—
Related Genes
OMGProtein interaction88%NF1Protein interaction82%RNF135Protein interaction81%ADAP2Protein interaction77%EVI2BProtein interaction77%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
32%
Lung
12%
Heart
3%
Liver
2%
Ovary
1%
Gene Interaction Network
Click a node to explore
EVI2AOMGNF1RNF135ADAP2EVI2B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P22794
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.30LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.80 [0.51–1.30]
RankingsWhere EVI2A stands among ~20K protein-coding genes
  • #13,181of 20,598
    Most Researched24
  • #5,328of 5,498
    Most Pathogenic Variants1
  • #13,653of 17,882
    Most Constrained (LOEUF)1.30
Genes detectedEVI2A
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Integrative bioinformatics and
PMID: 39449801
Oncol Res Β· 2024
1.00
2
A multiplex-PCR test for EVI2A and EVI2B polymorphisms within the human NF1 gene.
PMID: 8833251
Mamm Genome Β· 1996
0.90
3
A BamHI polymorphism in the human EVI2A gene (human homolog of the murine gene Evi-2).
PMID: 1675012
Nucleic Acids Res Β· 1991
0.80
4
SMYD2 Imparts Gemcitabine Resistance to Pancreatic Adenocarcinoma Cells by Upregulating EVI2A.
PMID: 37812330
Mol Biotechnol Β· 2024
0.70
5
Complete physical map and gene content of the human NF1 tumor suppressor region in human and mouse.
PMID: 12696059
Genes Chromosomes Cancer Β· 2003
0.60