SVOP
protein-codingSV2 related protein, the group of Solute carrier family 22
Gene summary
Predicted to enable transmembrane transporter activity. Predicted to be involved in transmembrane transport and xenobiotic transport. Predicted to be located in synaptic vesicle. Predicted to be active in synaptic vesicle membrane. [provided by Alliance of Genome Resources, Jul 2025]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~113.3 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to SVOP variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_018711.5. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | 1 | ||||
| missense | 0 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 1 | 0 | 0 | 1 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_061181.1 | 16 | MANE Select | |
| Ensembl | ENSP00000479104.1 | 16 | MANE Select | |
| Ensembl | ENSP00000447275.2 | 5 | Standard | |
| Ensembl | ENSP00000447583.2 | 4 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- transmembrane transport
Molecular Function
- transmembrane transporter activity
Cellular Component
- synaptic vesicle
- integral component of membrane
- cell junction
- synaptic vesicle membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000299134
- Coding exons
- 14
- Length
- 154388
- Individuals with no LoFs
- 124621
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 3
- Defined
- 124624
- p
- 0.0000120
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 2.46 | 155 | 268 | 0.578 | 0.0000151 | 3081 |
| Missense (PolyPhen) | 40 | 95.484 | 0.41892 | 1082 | ||
| Synonymous | 1.08 | 98 | 113 | 0.870 | 0.00000712 | 987 |
| Loss of Function | 4.75 | 2 | 30.1 | 0.0664 | 0.00000164 | 313 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00013 | 0.00013 | rare |
| Latino/Admixed American | 0.000029 | 0.000029 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0 | 0.0 | absent |
| South Asian | 0 | 0.0 | absent |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
Recessive Scores
- pRec
- 0.122
Essentials
- Indispensability pred.
- E
- Indispensability score
- 0.508