SVOPL

gene
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Also known as MGC46715SLC22B5

Summary

SVOPL (SVOP like, HGNC:27034) is a protein-coding gene on chromosome 7q34, encoding Putative transporter SVOPL (Q8N434).

The protein encoded by this gene is thought to be a member of solute carrier family 22, which includes transmembrane proteins that transport toxins and drugs from the body. This gene is a paralog of the SVOP gene that encodes synaptic vesicle 2-related protein.

Source: NCBI Gene 136306 — RefSeq curated summary.

At a glance

  • GWAS associations: 1
  • Clinical variants (ClinVar): 132 total
  • MANE Select transcript: NM_001139456

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:27034
Approved symbolSVOPL
NameSVOP like
Location7q34
Locus typegene with protein product
StatusApproved
AliasesMGC46715, SLC22B5
Ensembl geneENSG00000157703
Ensembl biotypeprotein_coding
OMIM611700
Entrez136306

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 7 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000288513, ENST00000419765, ENST00000421622, ENST00000436657, ENST00000441685, ENST00000463557, ENST00000478865, ENST00000674285, ENST00000867898

RefSeq mRNA: 3 — MANE Select: NM_001139456 NM_001139456, NM_001331192, NM_174959

CCDS: CCDS47721, CCDS5848

Canonical transcript exons

ENST00000674285 — 16 exons

ExonStartEnd
ENSE00001034447138628158138628363
ENSE00001034450138630049138630122
ENSE00001228445138627350138627461
ENSE00001599945138672019138672117
ENSE00001691762138678434138678525
ENSE00001779079138678964138679079
ENSE00001794219138659864138659988
ENSE00003501735138596417138596530
ENSE00003505724138649012138649137
ENSE00003509934138594285138594621
ENSE00003517519138656448138656511
ENSE00003528606138621046138621135
ENSE00003556847138663074138663145
ENSE00003612865138644717138644845
ENSE00003690140138625969138626050
ENSE00003898478138701178138701362

Expression profiles

Bgee: expression breadth ubiquitous, 135 present calls, max score 98.97.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.8415 / max 205.4147, expressed in 63 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter IDTPM avgSamples expressed
864480.504951
864490.270534
864500.066121

Top tissues by expression

226 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
secondary oocyteCL:000065598.97gold quality
oocyteCL:000002398.92gold quality
olfactory segment of nasal mucosaUBERON:000538686.97gold quality
mucosa of transverse colonUBERON:000499176.97gold quality
mucosa of paranasal sinusUBERON:000503076.37silver quality
metanephros cortexUBERON:001053375.06gold quality
minor salivary glandUBERON:000183066.46gold quality
nasal cavity mucosaUBERON:000182665.82gold quality
right adrenal gland cortexUBERON:003582765.33gold quality
metanephrosUBERON:000008164.84gold quality
right uterine tubeUBERON:000130264.49gold quality
right adrenal glandUBERON:000123364.41gold quality
left adrenal glandUBERON:000123463.53gold quality
left adrenal gland cortexUBERON:003582563.35gold quality
saliva-secreting glandUBERON:000104463.19gold quality
mouth mucosaUBERON:000372963.08gold quality
bronchial epithelial cellCL:000232862.21silver quality
adrenal cortexUBERON:000123562.12gold quality
adult mammalian kidneyUBERON:000008261.67gold quality
bronchusUBERON:000218561.39silver quality
adrenal glandUBERON:000236960.89gold quality
palpebral conjunctivaUBERON:000181259.99silver quality
adenohypophysisUBERON:000219657.61gold quality
pituitary glandUBERON:000000757.28gold quality
cortex of kidneyUBERON:000122556.72gold quality
kidneyUBERON:000211356.38gold quality
left testisUBERON:000453356.09gold quality
caudate nucleusUBERON:000187356.05gold quality
right testisUBERON:000453455.85gold quality
testisUBERON:000047355.22gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 5.

ExperimentMarker?Max mean expression
E-CURD-112yes13.14
E-MTAB-10042yes8.81
E-MTAB-8410yes8.74
E-HCAD-10yes7.27
E-ANND-3yes5.34

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

22 targeting SVOPL, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-428299.9975.366408
HSA-MIR-607799.9968.042299
HSA-MIR-548C-3P99.9974.017587
HSA-MIR-548N99.9871.944170
HSA-MIR-548AA99.9670.643753
HSA-MIR-548AP-3P99.9670.643753
HSA-MIR-548T-3P99.9670.643753
HSA-MIR-6892-3P99.6866.401178
HSA-MIR-1212399.5271.792990
HSA-MIR-568999.5071.261154
HSA-MIR-664A-3P99.2271.082696
HSA-MIR-1213598.9970.261814
HSA-MIR-432698.9767.63962
HSA-MIR-34B-3P98.7067.401171
HSA-MIR-299-5P98.5671.141140
HSA-MIR-548AO-5P98.5569.571362
HSA-MIR-548AX98.5569.581362
HSA-MIR-532-5P98.4367.53760
HSA-MIR-6529-5P97.8566.47673
HSA-MIR-379-5P97.5267.81485
HSA-MIR-3529-5P97.1267.06440
HSA-MIR-4633-5P96.1766.36501

Cross-species orthologs

43 orthologs

OrganismSymbolGene ID
danio_reriosvoplENSDARG00000057983
mus_musculusSvoplENSMUSG00000029830
rattus_norvegicusSvoplENSRNOG00000013378
drosophila_melanogasterOrctFBGN0019952
drosophila_melanogasterCG15221FBGN0030331
drosophila_melanogasterBalatFBGN0033778
drosophila_melanogasterCG5592FBGN0035645
drosophila_melanogasterCG10486FBGN0035647
drosophila_melanogasterCG14691FBGN0037829
drosophila_melanogasterCG14855FBGN0038260
drosophila_melanogasterCG14856FBGN0038261
drosophila_melanogasterCG14857FBGN0038262
drosophila_melanogasterCG12783FBGN0038448
drosophila_melanogasterCG7333FBGN0038715
drosophila_melanogasterCG7342FBGN0038716
drosophila_melanogasterCG17751FBGN0038717
drosophila_melanogasterCG17752FBGN0038718
drosophila_melanogasterCG16727FBGN0038719
drosophila_melanogasterCG6231FBGN0038720
drosophila_melanogasterCG4465FBGN0038750
drosophila_melanogasterCG4462FBGN0038752
drosophila_melanogasterCG4459FBGN0038753
drosophila_melanogasterCG6356FBGN0039178
drosophila_melanogasterCG3690FBGN0040350
drosophila_melanogasterCG31103FBGN0051103
drosophila_melanogasterCG31106FBGN0051106
drosophila_melanogasterCG31272FBGN0051272
drosophila_melanogasterCG33233FBGN0053233
drosophila_melanogasterCG33234FBGN0053234
drosophila_melanogasterOrct2FBGN0086365
drosophila_melanogasterCG42269FBGN0259164
drosophila_melanogasterCG44098FBGN0264907
caenorhabditis_elegansWBGENE00003837
caenorhabditis_elegansoct-1WBGENE00003842
caenorhabditis_elegansWBGENE00003843
caenorhabditis_elegansWBGENE00006220
caenorhabditis_elegansWBGENE00008110
caenorhabditis_elegansWBGENE00011456
caenorhabditis_elegansWBGENE00014127
caenorhabditis_elegansWBGENE00017751
caenorhabditis_elegansWBGENE00019408
caenorhabditis_elegansWBGENE00020701
caenorhabditis_elegansWBGENE00044455

Paralogs (22): SLC22A16 (ENSG00000004809), SLC22A17 (ENSG00000092096), SLC22A2 (ENSG00000112499), SLC22A7 (ENSG00000137204), SLC22A23 (ENSG00000137266), SLC22A14 (ENSG00000144671), SLC22A3 (ENSG00000146477), SLC22A8 (ENSG00000149452), SLC22A9 (ENSG00000149742), SLC22A15 (ENSG00000163393), SVOP (ENSG00000166111), SLC22A11 (ENSG00000168065), SLC22A13 (ENSG00000172940), SLC22A1 (ENSG00000175003), SLC22A10 (ENSG00000184999), SLC22A25 (ENSG00000196600), SLC22A4 (ENSG00000197208), SLC22A5 (ENSG00000197375), SLC22A24 (ENSG00000197658), SLC22A12 (ENSG00000197891), SLC22A6 (ENSG00000197901), SLC22A31 (ENSG00000259803)

Protein

Protein identifiers

Putative transporter SVOPLQ8N434 (reviewed: Q8N434)

Alternative names: SV2-related protein-like, SVOP-like protein

All UniProt accessions (4): A0A6I8PL26, C9JVJ9, Q8N434, F8WES3

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Similarity. Belongs to the major facilitator superfamily.

Isoforms (2)

UniProt IDNamesCanonical?
Q8N434-11yes
Q8N434-22

RefSeq proteins (3): NP_001132928, NP_001318121, NP_777619 (=MANE)

Domains & families (InterPro)

IDNameType
IPR005828MFS_sugar_transport-likeFamily
IPR011701MFSFamily
IPR020846MFS_domDomain
IPR036259MFS_trans_sfHomologous_superfamily

Pfam: PF00083, PF07690

UniProt features (14 total): transmembrane region 10, splice variant 2, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q8N434-F184.290.54

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 27 (showing top): GOBP_TRANSMEMBRANE_TRANSPORT, DODD_NASOPHARYNGEAL_CARCINOMA_DN, GOMF_TRANSPORTER_ACTIVITY, GREB1_TARGET_GENES, HAND1_TARGET_GENES, PAX3_TARGET_GENES, MIR12123, MIR4326, MIR532_5P, GSE14000_TRANSLATED_RNA_VS_MRNA_16H_LPS_DC_UP, CIZ_01, GAO_ESOPHAGUS_25W_C1_CILIATED_EPITHELIAL_CELLS, HAY_BONE_MARROW_CD34_POS_MEP, DESCARTES_MAIN_FETAL_PAEP_MECOM_POSITIVE_CELLS, DESCARTES_FETAL_PLACENTA_PAEP_MECOM_POSITIVE_CELLS

GO Biological Process (1): transmembrane transport (GO:0055085)

GO Molecular Function (2): transmembrane transporter activity (GO:0022857), protein binding (GO:0005515)

GO Cellular Component (1): membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
transport1
cellular process1
transporter activity1
transmembrane transport1
binding1
cellular anatomical structure1

Protein interactions and networks

STRING

786 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
SVOPLSLC67A2Q8NBP5708
SVOPLSLC75A1Q14728665
SVOPLMFSD11O43934640
SVOPLUNC93AQ86WB7637
SVOPLSLC61A1Q6N075627
SVOPLCOQ9O75208623
SVOPLNAT9Q9BTE0614
SVOPLLRGUKQ96M69572
SVOPLSPNS3Q6ZMD2570
SVOPLSLC68A1Q14CX5534
SVOPLHPS3Q969F9530
SVOPLRAD51AP1Q96B01522
SVOPLSLC71A1Q96MC6517
SVOPLSLC33A2Q96ES6512
SVOPLR3HCC1Q9Y3T6510

IntAct

4 interactions, top by confidence:

ABTypeScore
IQCB1PCP4L1psi-mi:“MI:0914”(association)0.350
SVOPLRTN2psi-mi:“MI:0914”(association)0.350
SVOPLPSMD12psi-mi:“MI:0914”(association)0.350

BioGRID (43): SVOPL (Affinity Capture-MS), TMEM42 (Two-hybrid), PCP4 (Affinity Capture-MS), SERPINE2 (Affinity Capture-MS), LMF2 (Affinity Capture-MS), RTN2 (Affinity Capture-MS), SIDT2 (Affinity Capture-MS), RTN4 (Affinity Capture-MS), C4orf32 (Affinity Capture-MS), AHNAK (Affinity Capture-MS), AMOT (Affinity Capture-MS), ARFGAP3 (Affinity Capture-MS), ASCC3 (Affinity Capture-MS), ATXN2 (Affinity Capture-MS), BAG6 (Affinity Capture-MS)

ESM2 similar proteins: A1L1W9, B0JZE1, D3Z5L6, D4A9K4, F1NJ67, G5E8K6, G8XYX6, O08966, O15375, O35308, O35440, O60669, O70324, O70451, O70461, O94956, P36021, P53985, P53986, P53987, P53988, Q03064, Q05B81, Q0IHM1, Q3MHW6, Q3U9N9, Q5EBA8, Q5TF39, Q63089, Q63344, Q68F72, Q6DCX5, Q6DEJ6, Q6NT16, Q6PDF3, Q6PEM8, Q7ZWG6, Q80T22, Q8BH31, Q8CE47

Diamond homologs: A4QH18, P07661, P0A2G3, P0A2G4, P0AEX3, P0AEX4, P0C0L7, P0C0L8, P0DPR5, P16482, P37643, P40862, P44610, P44699, P76350, P77228, Q47421, Q4L3Q4, Q5HIA2, Q5HRH0, Q6GBR4, Q6GJ96, Q79VC4, Q7A771, Q8N434, Q8NXW9, Q99W36, Q9KWK6, A0A1E3B0S4, O52733, O59726, P11636, P30605, P30638, Q0P4G6, Q1JP63, Q1LVS8, Q28ES4, Q2XWK0, Q4F7G0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

132 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance108
Likely benign9
Benign3

Top pathogenic / likely-pathogenic (0)

SpliceAI

2604 predictions. Top by Δscore:

VariantEffectΔscore
7:138621133:GACC:Gacceptor_loss1.0000
7:138621134:ACCT:Aacceptor_loss1.0000
7:138621136:C:CAacceptor_loss1.0000
7:138621137:T:Cacceptor_loss1.0000
7:138625962:AACTC:Adonor_loss1.0000
7:138625963:ACTC:Adonor_loss1.0000
7:138625966:CACC:Cdonor_loss1.0000
7:138625967:A:ACdonor_gain1.0000
7:138625968:C:CAdonor_loss1.0000
7:138625968:C:CCdonor_gain1.0000
7:138625968:CCT:Cdonor_gain1.0000
7:138626046:CGGCA:Cacceptor_gain1.0000
7:138626047:GGCA:Gacceptor_gain1.0000
7:138626048:GCA:Gacceptor_gain1.0000
7:138626048:GCACT:Gacceptor_loss1.0000
7:138626049:CA:Cacceptor_gain1.0000
7:138626049:CAC:Cacceptor_gain1.0000
7:138626049:CACT:Cacceptor_loss1.0000
7:138626050:AC:Aacceptor_loss1.0000
7:138626051:C:CCacceptor_gain1.0000
7:138626051:CTAGA:Cacceptor_loss1.0000
7:138626052:T:Aacceptor_loss1.0000
7:138628153:CTTA:Cdonor_loss1.0000
7:138628154:TTA:Tdonor_loss1.0000
7:138628155:TA:Tdonor_loss1.0000
7:138628156:A:ACdonor_gain1.0000
7:138628156:ACAAG:Adonor_gain1.0000
7:138628157:C:CTdonor_gain1.0000
7:138628157:CA:Cdonor_gain1.0000
7:138628157:CAA:Cdonor_gain1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000006050 (7:138632726 A>AGGATGGGGGC), RS1000019503 (7:138642016 C>T), RS1000044598 (7:138670063 C>T), RS1000044720 (7:138626241 G>A), RS1000050144 (7:138676905 T>A), RS1000054472 (7:138647627 G>A), RS1000188432 (7:138698773 A>G), RS1000191019 (7:138693639 G>A,C), RS1000197208 (7:138620957 C>T), RS1000206676 (7:138604139 T>G), RS1000285876 (7:138631196 T>A), RS1000286075 (7:138665219 C>T), RS1000294716 (7:138679700 G>A), RS1000347388 (7:138679435 A>G), RS1000350568 (7:138615109 G>A)

Disease associations

OMIM: gene MIM:611700 | disease phenotypes: MIM:236750

GenCC curated gene-disease

Mondo (1): non-immune hydrops fetalis (MONDO:0009369)

Orphanet (1): Non-immune hydrops fetalis (Orphanet:363999)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

StudyTraitp-value
GCST006088_53Familial squamous cell lung carcinoma5.000000e-06

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0006953family history of lung cancer

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

14 total (human), top 14 by PubMed support.

ChemicalActions (top 5)PubMed papers
entinostatincreases expression, affects cotreatment2
bisphenol Aaffects cotreatment, increases methylation1
S-(1,2-dichlorovinyl)cysteineincreases expression1
pentanaldecreases expression1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, increases expression1
dorsomorphinaffects cotreatment, increases expression1
theaflavin-3,3’-digallateaffects expression1
Bortezomibdecreases expression1
Fulvestrantincreases methylation, affects cotreatment1
Benzo(a)pyreneincreases methylation1
Silicon Dioxidedecreases expression1
Tobacco Smoke Pollutiondecreases expression1
Valproic Acidincreases methylation1
Cyclosporineincreases methylation1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

First 10 cell lines (id-ordered, not curated):

CellosaurusNameCategorySex
CVCL_D4UWHuH7-SVOPL-KO-c2Cancer cell lineMale
CVCL_D4UXHuH7-SVOPL-KO-c3Cancer cell lineMale

Clinical trials (associated diseases)

2 trials via MONDO — disease-level, not drug-specific.

TrialPhaseStatusTitle
NCT04308603Not specifiedCOMPLETEDMulticentric Prospective Study to Screen Inborn Errors of Metabolism in Non-immune Hydrops (NIH) Fetalis by Massively Parallel Sequencing
NCT05528796Not specifiedENROLLING_BY_INVITATIONUncovering the Etiologies of Non-immune Hydrops Fetalis
  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): non-immune hydrops fetalis