SV2C synaptic vesicle glycoprotein 2C [Homo sapiens (human)] - Gene

Summary

Official Symbol: SV2Cprovided by HGNC
Official Full Name: synaptic vesicle glycoprotein 2Cprovided by HGNC
Primary source: HGNC:HGNC:30670
See related: Ensembl:ENSG00000122012 MIM:610291; AllianceGenome:HGNC:30670
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SLC22B3
Summary: Predicted to enable transmembrane transporter activity. Predicted to be involved in several processes, including chemical synaptic transmission; neurotransmitter transport; and regulation of synaptic vesicle exocytosis. Predicted to be located in plasma membrane and synaptic vesicle. Predicted to be active in dopaminergic synapse and synaptic vesicle membrane. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in brain (RPKM 1.2), adrenal (RPKM 0.7) and 8 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q13.3

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (75847464..76353939)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (76328570..76835704)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (75379208..75649764)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Correlation of SV2C rs1423099 single nucleotide polymorphism with sporadic Parkinson's disease in Han population in Southern China.
Title: Correlation of SV2C rs1423099 single nucleotide polymorphism with sporadic Parkinson's disease in Han population in Southern China.
Differentiation of two human neuroblastoma cell lines alters SV2 expression patterns.
Title: Differentiation of two human neuroblastoma cell lines alters SV2 expression patterns.
Identification of Risk Loci for Parkinson Disease in Asians and Comparison of Risk Between Asians and Europeans: A Genome-Wide Association Study.
Title: Identification of Risk Loci for Parkinson Disease in Asians and Comparison of Risk Between Asians and Europeans: A Genome-Wide Association Study.
These data establish SV2C as a mediator of dopamine neuron function and suggest that SV2C disruption is a unique feature of PD that likely contributes to dopaminergic dysfunction.
Title: Synaptic vesicle glycoprotein 2C (SV2C) modulates dopamine release and is disrupted in Parkinson disease.
N-linked glycosylation of SV2C is required for binding and uptake of botulinum neurotoxin A.
Title: N-linked glycosylation of SV2 is required for binding and uptake of botulinum neurotoxin A.
Studies indicate that botulinum neurotoxins (BoNTs) in complex with its protein receptor, synaptic vesicle glycoprotein 2 (SV2) family member C represented a major advance for the detailed molecular understanding of BoNT-host cell receptor interactions.
Title: Botulinum neurotoxins: new questions arising from structural biology.
A genetic variant in SV2C predicted clinically relevant bevacizumab-induced hypertension in two independent, randomised phase III trials.
Title: Genetic variant predicts bevacizumab-induced hypertension in ECOG-5103 and ECOG-2100.
In classical mesial temporal sclerosis 1A, the expression of SV2 isoforms is altered with a selective increase of SV2C in sprouting mossy fibres.
Title: Expression pattern of synaptic vesicle protein 2 (SV2) isoforms in patients with temporal lobe epilepsy and hippocampal sclerosis.
The fact that multiple SNPs in SV2C may impact response to atypical antipsychotics suggests that further evaluation of SNPs in this gene
Title: Genotypic variation in the SV2C gene impacts response to atypical antipsychotics the CATIE study.
high-resolution crystal structure of the BoNT/A receptor-binding domain in complex with the SV2C luminal domain
Title: Structural basis for recognition of synaptic vesicle protein 2C by botulinum neurotoxin A.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study for venous thromboembolism: the extended cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variant predicts bevacizumab-induced hypertension in ECOG-5103 and ECOG-2100. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis identifies new susceptibility loci for migraine. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AFMa119xe1 (e-PCR)
- UniSTS:27166

SHGC-13322 (e-PCR)
- UniSTS:11295

SHGC-149746 (e-PCR)
- UniSTS:177192

SHGC-149138 (e-PCR)
- UniSTS:173112

SHGC-155222 (e-PCR)
- UniSTS:184168

SHGC-79936 (e-PCR)
- UniSTS:101504

SV2C (e-PCR)
- UniSTS:504965

G64485 (e-PCR)
- UniSTS:163994

AFM310vg1 (e-PCR)
- UniSTS:58533

GDB:384854 (e-PCR)
- UniSTS:157109

D12S1240E (e-PCR)
- UniSTS:151487

SHGC-12704 (e-PCR)
- UniSTS:6108

RH120130 (e-PCR)
- UniSTS:132335

SHGC-173150 (e-PCR)
- UniSTS:185335

Clone Names

MGC118874, MGC118875, MGC118876, MGC118877

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane transporter activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in chemical synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in neurotransmitter transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of synaptic vesicle exocytosis	IEA Inferred from Electronic Annotation more info
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in dopaminergic synapse	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in synaptic vesicle	TAS Traceable Author Statement more info	PubMed
is_active_in synaptic vesicle membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in synaptic vesicle membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: synaptic vesicle glycoprotein 2C

Names: solute carrier family 22 member B3; synaptic vesicle protein 2C

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001297716.2 → NP_001284645.1 synaptic vesicle glycoprotein 2C isoform 2

See identical proteins and their annotated locations for NP_001284645.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) has an alternate 3' terminal exon, compared to variant 1. The resulting isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC026774, AC026783, AC108091, AK094917

Consensus CDS

CCDS75261.1

UniProtKB/TrEMBL

B3KT41

Related

ENSP00000316983.7, ENST00000322285.7

Conserved Domains (3) summary

cd06174
Location:155 → 348

MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...

TIGR01299
Location:1 → 667

synapt_SV2; synaptic vesicle protein SV2

pfam13576
Location:507 → 561

Pentapeptide_3; Pentapeptide repeats (9 copies)
NM_014979.4 → NP_055794.3 synaptic vesicle glycoprotein 2C isoform 1

See identical proteins and their annotated locations for NP_055794.3

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AB028977, AC026774, AC108091, AC113404, AK094917, BC100825, DA725900, R44558

Consensus CDS

CCDS43331.1

UniProtKB/Swiss-Prot

Q496J9, Q496K1, Q9UPU8

Related

ENSP00000423541.2, ENST00000502798.7

Conserved Domains (3) summary

cd06174
Location:155 → 719

MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...

TIGR01299
Location:1 → 727

synapt_SV2; synaptic vesicle protein SV2

pfam13576
Location:507 → 561

Pentapeptide_3; Pentapeptide repeats (9 copies)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

75847464..76353939

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011543282.4 → XP_011541584.2 synaptic vesicle glycoprotein 2C isoform X1

UniProtKB/Swiss-Prot

Q496J9, Q496K1, Q9UPU8

Conserved Domains (3) summary

cd06174
Location:155 → 719

MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...

TIGR01299
Location:1 → 727

synapt_SV2; synaptic vesicle protein SV2

pfam13576
Location:507 → 561

Pentapeptide_3; Pentapeptide repeats (9 copies)
XM_047416961.1 → XP_047272917.1 synaptic vesicle glycoprotein 2C isoform X2
XM_011543281.4 → XP_011541583.1 synaptic vesicle glycoprotein 2C isoform X1

See identical proteins and their annotated locations for XP_011541583.1

UniProtKB/Swiss-Prot

Q496J9, Q496K1, Q9UPU8

Conserved Domains (3) summary

cd06174
Location:155 → 719

MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...

TIGR01299
Location:1 → 727

synapt_SV2; synaptic vesicle protein SV2

pfam13576
Location:507 → 561

Pentapeptide_3; Pentapeptide repeats (9 copies)
XM_017009244.3 → XP_016864733.1 synaptic vesicle glycoprotein 2C isoform X3