4 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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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
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.
1
EVI5L is a RabGAP with activity toward Rab10 and Rab23, involved in cilia formation; EVI5 family implicated in multiple sclerosis susceptibility
PMID: 236693552
EVI5L overexpression blocks ciliogenesis; TGIF1/TGIF2 repress EVI5L expression; EVI5L reduction restores cilium numbers and Shh pathway signaling
PMID: 279567043
EVI5L identified as potential diagnostic biomarker for idiopathic pulmonary hypertension with metabolic syndrome
PMID: 366354134
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.
Abnormality of the skeletal systemOpen Targets
schizophreniaOpen Targets
myeloid sarcomaOpen Targets
idiopathic pulmonary arterial hypertensionOpen Targets
hepatocellular carcinomaOpen Targets
posterior cortical atrophyOpen Targets
multiple sclerosisOpen Targets
acute myeloid leukemiaOpen Targets
cervical cancerOpen Targets
gastric cancerOpen Targets
hereditary breast carcinomaOpen Targets
nonpapillary renal cell carcinomaOpen Targets
ovarian serous cystadenocarcinomaOpen Targets
papillary renal cell carcinomaOpen Targets
thyroid cancer, nonmedullary, 1Open Targets
urinary bladder cancerOpen Targets
No pathogenic variants reported on ClinVar for this gene.