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GeneE
3 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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ETV3L
ETS variant transcription factor 3 like
Chromosome 1 Β· 1q23.1
NCBI Gene: 440695Ensembl: ENSG00000253831.4HGNC: HGNC:33834UniProt: Q6ZN32
3PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingregulation of transcription by RNA polymerase IIcell differentiationnucleusneurodegenerative diseasemuscular diseasemetabolic diseasechronic pancreatitis
✦AI Summary

ETV3L is a transcriptional regulator that functions as a DNA-binding transcription factor for RNA polymerase II-dependent genes 1. It plays a role in regulating immune responses, as demonstrated by its capacity to upregulate the promoter of human leukocyte-associated immunoglobulin-like receptor-1 (LAIR-1), an immunoinhibitory receptor expressed on hematopoietic cells 1. ETV3L expression varies in response to vitamin D signaling in peripheral blood mononuclear cells, suggesting involvement in vitamin D-mediated immune modulation 2. This responsiveness to 1,25-dihydroxyvitamin D indicates a potential role in immune system regulation, with implications for vitamin D-linked immune traits and diseases such as multiple sclerosis 2. Additionally, ETV3L has been identified as a candidate gene in sporadic Currarino Syndrome, a rare congenital malformation syndrome affecting anorectal, sacral, and presacral development 3. This association suggests possible involvement in developmental processes, potentially through transcriptional regulation mechanisms. The specific molecular mechanisms underlying ETV3L's developmental functions remain to be fully characterized.

Sources cited
1
ETV3L is an ETS family transcription factor that upregulates LAIR-1 gene promoter activity
PMID: 29915163
2
ETV3L is an expression quantitative trait locus for transcriptional response to vitamin D in immune cells
PMID: 27454520
3
ETV3L is a candidate gene identified in sporadic Currarino Syndrome cases
PMID: 28456592
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
neurodegenerative diseaseOpen Targets
0.48Moderate
muscular diseaseOpen Targets
0.25Weak
metabolic diseaseOpen Targets
0.06Suggestive
chronic pancreatitisOpen Targets
0.06Suggestive
central nervous system infectionOpen Targets
0.05Suggestive
diabetes mellitusOpen Targets
0.04Suggestive
rheumatic diseaseOpen Targets
0.02Suggestive
psoriasisOpen Targets
0.02Suggestive
prostate carcinomaOpen Targets
0.02Suggestive
Alzheimer diseaseOpen Targets
0.00Suggestive
colorectal carcinomaOpen Targets
0.00Suggestive
depressive disorderOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
Cowden syndrome 1Open Targets
0.00Suggestive
ovarian cancerOpen Targets
0.00Suggestive
esophageal cancerOpen Targets
0.00Suggestive
Hereditary breast cancerOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
urinary bladder cancerOpen Targets
0.00Suggestive
Uterine CarcinosarcomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
ANXA13Shared pathway100%ELF1Shared pathway100%ELF2Shared pathway100%ELF5Shared pathway100%ELK3Shared pathway100%ELK4Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Lung
0%
Bone Marrow
0%
Ovary
0%
Heart
0%
Liver
0%
Gene Interaction Network
Click a node to explore
ETV3LANXA13ELF1ELF2ELF5ELK3ELK4
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q6ZN32
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.45LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.07 [0.80–1.45]
RankingsWhere ETV3L stands among ~20K protein-coding genes
  • #18,841of 20,598
    Most Researched3
  • #14,875of 17,882
    Most Constrained (LOEUF)1.45
Genes detectedETV3L
Sources retrieved3 papers
Response timeβ€”
πŸ“„ Sources
3
1
Whole exome sequencing of sporadic patients with Currarino Syndrome: A report of three trios.
PMID: 28456592
Gene Β· 2017
1.00
2
Mapping Variation in Cellular and Transcriptional Response to 1,25-Dihydroxyvitamin D3 in Peripheral Blood Mononuclear Cells.
PMID: 27454520
PLoS One Β· 2016
0.67
3
Five ETS family members, ELF-1, ETV-4, ETV-3L, ETS-1, and ETS-2 upregulate human leukocyte-associated immunoglobulin-like receptor-1 gene basic promoter activity.
PMID: 29915163
Aging (Albany NY) Β· 2018
0.33