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4 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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EVI5L
ecotropic viral integration site 5 like
Chromosome 19 · 19p13.2
NCBI Gene: 115704Ensembl: ENSG00000142459.10HGNC: HGNC:30464UniProt: A0A384MR55
36PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
GTPase activator activityprotein bindingsmall GTPase bindingpositive regulation of GTPase activityAbnormality of the skeletal systemGenu valgumGenu varumschizophrenia
✦AI Summary

EVI5L (ecotropic viral integration site 5 like) is a GTPase-activating protein (GAP) with broad substrate specificity that functions as a negative regulator of ciliogenesis. As a TBC domain-containing protein, EVI5L exhibits RabGAP activity toward Rab10 and Rab23, regulators of intracellular trafficking 1. The primary mechanism of EVI5L's anti-ciliogenic function involves suppression of primary cilium assembly; overexpression of EVI5L blocks ciliogenesis, while reduced EVI5L expression restores cilium formation and hedgehog (Shh) pathway signaling 2. EVI5L expression is negatively regulated by TGIF1/TGIF2 transcription factors, which bind conserved regulatory elements upstream of the EVI5L gene 2. Dysregulation of EVI5L has been associated with multiple disease states: it was identified as a potential diagnostic biomarker in idiopathic pulmonary hypertension with metabolic syndrome 3, and differential EVI5L expression was detected in calcium oxalate kidney stone patients 4. The broader EVI5 family has been implicated in multiple sclerosis susceptibility 1. These findings suggest EVI5L's role as a critical modulator of ciliary development with potential relevance to multiple human pathologies involving ciliary dysfunction and metabolic dysregulation.

Sources cited
1
EVI5L is a RabGAP with activity toward Rab10 and Rab23, involved in cilia formation; EVI5 family implicated in multiple sclerosis susceptibility
PMID: 23669355
2
EVI5L overexpression blocks ciliogenesis; TGIF1/TGIF2 repress EVI5L expression; EVI5L reduction restores cilium numbers and Shh pathway signaling
PMID: 27956704
3
EVI5L identified as potential diagnostic biomarker for idiopathic pulmonary hypertension with metabolic syndrome
PMID: 36635413
4
Differential EVI5L expression detected in calcium oxalate kidney stone patients; lncRNA-EVI5L-1 dysregulated in urolithiasis
PMID: 31036010
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.29Weak
Genu valgumOpen Targets
0.02Suggestive
Genu varumOpen Targets
0.02Suggestive
schizophreniaOpen Targets
0.01Suggestive
myeloid sarcomaOpen Targets
0.01Suggestive
idiopathic pulmonary arterial hypertensionOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
posterior cortical atrophyOpen Targets
0.00Suggestive
multiple sclerosisOpen Targets
0.00Suggestive
acute myeloid leukemiaOpen Targets
0.00Suggestive
cervical cancerOpen Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
hereditary breast carcinomaOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.00Suggestive
ovarian serous cystadenocarcinomaOpen Targets
0.00Suggestive
papillary renal cell carcinomaOpen Targets
0.00Suggestive
sarcomaOpen Targets
0.00Suggestive
thyroid cancer, nonmedullary, 1Open Targets
0.00Suggestive
urinary bladder cancerOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TBC1D30Shared pathway100%MAP3K10Protein interaction78%RAB23Protein interaction70%ODF2LShared pathway50%MPHOSPH9Shared pathway50%ZC3H15Shared pathway33%
Tissue Expression6 tissues
Brain
100%
Heart
75%
Ovary
48%
Lung
46%
Liver
42%
Bone Marrow
26%
Gene Interaction Network
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EVI5LTBC1D30MAP3K10RAB23ODF2LMPHOSPH9ZC3H15
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q96CN4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.52Moderately Constrained
pLIⓘ
0.79Intermediate
Observed/Expected LoF0.39 [0.29–0.52]
RankingsWhere EVI5L stands among ~20K protein-coding genes
  • #10,775of 20,598
    Most Researched36
  • #3,247of 17,882
    Most Constrained (LOEUF)0.52 · top quartile
Genes detectedEVI5L
Sources retrieved4 papers
Response time—
📄 Sources
4
1
The Evi5 family in cellular physiology and pathology.
PMID: 23669355
FEBS Lett · 2013
1.00
2
LncRNA-miRNA-mRNA expression variation profile in the urine of calcium oxalate stone patients.
PMID: 31036010
BMC Med Genomics · 2019
0.75
3
Identification of diagnostic biomarkers for idiopathic pulmonary hypertension with metabolic syndrome by bioinformatics and machine learning.
PMID: 36635413
Sci Rep · 2023
0.50
4
Tgif1 and Tgif2 Repress Expression of the RabGAP Evi5l.
PMID: 27956704
Mol Cell Biol · 2017
0.25