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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SVOPL
SVOP like
Chromosome 7 · 7q34
NCBI Gene: 136306Ensembl: ENSG00000157703.17HGNC: HGNC:27034UniProt: Q8N434
7PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
transmembrane transporter activityplasma membranetransmembrane transportmembraneToxic Nodular Goitercentral nervous system canceralcohol drinkinghypotension
✦AI Summary

SVOPL (SVOP like) is a transmembrane transporter protein located on chromosome 7 with structural similarity to the SLC22 family of organic cation and anion transporters 1. The gene is a paralog to the synaptic vesicle protein SVOP and shares phylogenetic relationship with SLC22 family members and SV2A-C proteins 1. SVOPL exhibits parent-of-origin-specific expression patterns consistent with genomic imprinting, demonstrating maternal-only expression 2. The gene is located within a differentially methylated region (DMR) on chromosome 7 that is altered in maternal uniparental disomy and other imprinting disorders 234. Clinically, SVOPL is relevant to multiple disease contexts. Variants in SVOPL have been identified as potential novel disease candidates in cases of embryonic and perinatal lethality 5. The gene shows altered allele-specific expression during colorectal cancer tumorigenesis, with allelic switching where the predominant allele in normal tissue becomes the lowest expressed allele in tumors 6. Additionally, SVOPL disruption has been identified in carriers of balanced chromosome 7 associated with neurocognitive disabilities 7. SVOPL methylation patterns are also affected in assisted reproductive technology-conceived infants, showing hypomethylation at birth 4, and genetic variants near SVOPL associate with handedness phenotypes in genome-wide studies 8.

Sources cited
1
SVOPL is a paralog to synaptic vesicle protein SVOP with structural similarity to SLC22 family transporters; phylogenetic analysis shows relationship to SVOP and SV2A-C proteins
PMID: 17714910
2
SVOPL exhibits maternal-only expression (imprinting) and contains a differentially methylated region (DMR) altered in maternal uniparental disomy of chromosome 7
PMID: 24247273
3
SVOPL is proposed as a novel candidate gene linked to embryonic and perinatal lethality based on evidence from molecular autopsy studies
PMID: 28749478
4
SVOPL shows allelic switching in colorectal cancer where the abundantly expressed allele in normal tissue becomes the lowest expressed allele in tumors
PMID: 31093489
5
SVOPL disruption identified in carriers of balanced chromosome translocations associated with neurocognitive disabilities
PMID: 27862604
6
SVOPL is a maternally imprinted gene showing decreased DNA methylation in newborns conceived by assisted reproductive technology
PMID: 33823999
7
SVOPL variant (rs117495448) shows near genome-wide significance association with left-handedness in Korean GWAS
PMID: 37337823
8
SVOPL DMR validation performed in genome-wide methylation study of pseudohypoparathyroidism patients with imprinting defects
PMID: 26819647
Disease Associationsⓘ20
Toxic Nodular GoiterOpen Targets
0.36Weak
central nervous system cancerOpen Targets
0.32Weak
alcohol drinkingOpen Targets
0.30Weak
hypotensionOpen Targets
0.29Weak
acquired thrombocytopeniaOpen Targets
0.28Weak
adverse effectOpen Targets
0.28Weak
diabetic ketoacidosisOpen Targets
0.28Weak
response to stimulusOpen Targets
0.28Weak
diabetes mellitusOpen Targets
0.26Weak
hemorrhageOpen Targets
0.26Weak
gastric ulcerOpen Targets
0.25Weak
Non-immune hydrops fetalisOpen Targets
0.11Weak
ocular hypotensionOpen Targets
0.07Suggestive
bladder neck obstructionOpen Targets
0.07Suggestive
ovarian neoplasmOpen Targets
0.03Suggestive
injuryOpen Targets
0.02Suggestive
ulcerative colitisOpen Targets
0.02Suggestive
keratoconusOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SPNS3Co-mentioned in literature25%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
23%
Brain
11%
Lung
4%
Liver
1%
Heart
0%
Gene Interaction Network
Click a node to explore
SVOPLSPNS3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8N434
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.18LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.91 [0.71–1.18]
RankingsWhere SVOPL stands among ~20K protein-coding genes
  • #17,963of 20,598
    Most Researched7
  • #12,311of 17,882
    Most Constrained (LOEUF)1.18
Genes detectedSVOPL
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Molecular autopsy in maternal-fetal medicine.
PMID: 28749478
Genet Med · 2018
1.00
2
Genome-wide association and replication studies for handedness in a Korean community-based cohort.
PMID: 37337823
Brain Behav · 2023
0.90
3
Differentially methylated regions in maternal and paternal uniparental disomy for chromosome 7.
PMID: 24247273
Epigenetics · 2014
0.80
4
Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects.
PMID: 26819647
Clin Epigenetics · 2016
0.70
5
Conception by fertility treatment and offspring deoxyribonucleic acid methylation.
PMID: 33823999
Fertil Steril · 2021
0.60