Human Gene SV2A (ENST00000369146.8_7) from GENCODE V47lift37

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Description: synaptic vesicle glycoprotein 2A, transcript variant 1 (from RefSeq NM_014849.5)
Gencode Transcript: ENST00000369146.8_7
Gencode Gene: ENSG00000159164.10_9
Transcript (Including UTRs)
Position: hg19 chr1:149,874,870-149,889,396 Size: 14,527 Total Exon Count: 13 Strand: -
Coding Region
Position: hg19 chr1:149,876,566-149,885,392 Size: 8,827 Coding Exon Count: 12

Page Index	Sequence and Links	UniProtKB Comments	Primers	MalaCards	CTD
Gene Alleles	RNA-Seq Expression	Microarray Expression	RNA Structure	Protein Structure	Other Species
GO Annotations	mRNA Descriptions	Pathways	Other Names	Model Information	Methods

Data last updated at UCSC: 2024-08-22 23:36:26

Sequence and Links to Tools and Databases

Genomic Sequence (chr1:149,874,870-149,889,396)			mRNA (may differ from genome)		Protein (742 aa)
Gene Sorter	Genome Browser	Other Species FASTA	VisiGene	Gene interactions	Table Schema
AlphaFold	BioGPS	Ensembl	Entrez Gene	ExonPrimer	GeneCards
HGNC	Human Cortex Gene Expression	Malacards	MGI	OMIM	PubMed
Reactome	UniProtKB	Wikipedia	BioGrid CRISPR DB

Comments and Description Text from UniProtKB


	ID: SV2A_HUMAN DESCRIPTION: RecName: Full=Synaptic vesicle glycoprotein 2A; FUNCTION: Plays a role in the control of regulated secretion in neural and endocrine cells, enhancing selectively low-frequency neurotransmission. Positively regulates vesicle fusion by maintaining the readily releasable pool of secretory vesicles (By similarity). SUBUNIT: Interacts with SYT1/synaptotagmin-1 in a calcium- dependent manner. Binds the adapter protein complex AP-2 (By similarity). SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Multi-pass membrane protein (By similarity). Note=Enriched in chromaffin granules, not present in adrenal microsomes. Associated with both insulin granules and synaptic-like microvesicles in insulin-secreting cells of the pancreas (By similarity). PTM: Phosphorylation by CK1 of the N-terminal cytoplasmic domain regulates interaction with SYT1 (By similarity). PTM: N-glycosylated (By similarity). MISCELLANEOUS: Identified as the brain binding-site for the antiepileptic drug levetiracetam/lev. SIMILARITY: Belongs to the major facilitator superfamily. SEQUENCE CAUTION: Sequence=BAA34456.2; Type=Erroneous initiation; Sequence=CAI12573.1; Type=Erroneous gene model prediction;

Primer design for this transcript

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3

MalaCards Disease Associations


	MalaCards Gene Search: SV2A Diseases sorted by gene-association score: alcohol-related birth defect (12), photosensitive epilepsy (8)

Comparative Toxicogenomics Database (CTD)


	The following chemicals interact with this gene C029790 2,2',3',4,4',5-hexachlorobiphenyl C548651 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester C482793 2-(2-oxo-4-propylpyrrolidin-1-yl)butanamide C030370 2-methoxy-5-(2',3',4'-trimethoxyphenyl)tropone D000643 Ammonium Chloride D001151 Arsenic D016572 Cyclosporine D003993 Dibutyl Phthalate D005419 Flavonoids D004397 Fonofos more ... click here to view the complete list

Common Gene Haplotype Alleles


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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)


	Highest median expression: 84.74 RPKM in Brain - Cerebellar Hemisphere Total median expression: 773.07 RPKM View in GTEx track of Genome Browser View at GTEx portal View GTEx Body Map

Microarray Expression Data


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mRNA Secondary Structure of 3' and 5' UTRs

Region	Fold Energy	Bases	Energy/Base	Display As
5' UTR	-152.90	453	-0.338	Picture	PostScript	Text
3' UTR	-598.70	1696	-0.353	Picture	PostScript	Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

Protein Domain and Structure Information

InterPro Domains: Graphical view of domain structure
IPR011701 - MFS
IPR020846 - MFS_dom
IPR016196 - MFS_dom_general_subst_transpt
IPR005828 - Sub_transporter
IPR005829 - Sugar_transporter_CS
IPR022308 - SV2_chordata

Pfam Domains:
PF00083 - Sugar (and other) transporter
PF07690 - Major Facilitator Superfamily

SCOP Domains:
51126 - Pectin lyase-like
141571 - Pentapeptide repeat-like
103473 - MFS general substrate transporter

ModBase Predicted Comparative 3D Structure on Q7L0J3


Front	Top	Side

The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

Orthologous Genes in Other Species

Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.

Mouse	Rat	Zebrafish	D. melanogaster	C. elegans	S. cerevisiae
No ortholog	No ortholog	No ortholog	No ortholog	No ortholog	No ortholog
Gene Details	Gene Details
Gene Sorter	Gene Sorter
	RGD	Ensembl

Gene Ontology (GO) Annotations with Structured Vocabulary


	Molecular Function: GO:0005215 transporter activity GO:0019901 protein kinase binding GO:0022857 transmembrane transporter activity GO:0038023 signaling receptor activity Biological Process: GO:0006836 neurotransmitter transport GO:0006874 cellular calcium ion homeostasis GO:0007165 signal transduction GO:0007268 chemical synaptic transmission GO:0014052 regulation of gamma-aminobutyric acid secretion GO:0055085 transmembrane transport Cellular Component: GO:0005783 endoplasmic reticulum GO:0005886 plasma membrane GO:0005911 cell-cell junction GO:0008021 synaptic vesicle GO:0016020 membrane GO:0016021 integral component of membrane GO:0030054 cell junction GO:0030285 integral component of synaptic vesicle membrane GO:0030425 dendrite GO:0030672 synaptic vesicle membrane GO:0031410 cytoplasmic vesicle GO:0031594 neuromuscular junction GO:0043005 neuron projection GO:0043025 neuronal cell body GO:0045202 synapse GO:0048786 presynaptic active zone

Descriptions from all associated GenBank mRNAs


	BC034038 - Homo sapiens cDNA clone IMAGE:4816121, containing frame-shift errors. AB018279 - Homo sapiens KIAA0736 mRNA for KIAA0736 protein. JD352762 - Sequence 333786 from Patent EP1572962. JD393312 - Sequence 374336 from Patent EP1572962. BC112435 - Homo sapiens cDNA clone IMAGE:40009259. BC114453 - Homo sapiens cDNA clone IMAGE:40009254. JD550767 - Sequence 531791 from Patent EP1572962. JD359613 - Sequence 340637 from Patent EP1572962. JD190521 - Sequence 171545 from Patent EP1572962. JD164419 - Sequence 145443 from Patent EP1572962. BC000776 - Homo sapiens synaptic vesicle glycoprotein 2A, mRNA (cDNA clone IMAGE:3509807), partial cds. BC045111 - Homo sapiens synaptic vesicle glycoprotein 2A, mRNA (cDNA clone MGC:52199 IMAGE:5804662), complete cds. BX537754 - Homo sapiens mRNA; cDNA DKFZp686O1682 (from clone DKFZp686O1682); complete cds. JD055960 - Sequence 36984 from Patent EP1572962. JD205148 - Sequence 186172 from Patent EP1572962. JD266897 - Sequence 247921 from Patent EP1572962. JD422230 - Sequence 403254 from Patent EP1572962. JD260467 - Sequence 241491 from Patent EP1572962. JD419185 - Sequence 400209 from Patent EP1572962. JD132982 - Sequence 114006 from Patent EP1572962. JD254355 - Sequence 235379 from Patent EP1572962. JD065352 - Sequence 46376 from Patent EP1572962. JD038101 - Sequence 19125 from Patent EP1572962. JD068163 - Sequence 49187 from Patent EP1572962. JD214225 - Sequence 195249 from Patent EP1572962. JD483997 - Sequence 465021 from Patent EP1572962. JD472942 - Sequence 453966 from Patent EP1572962. JD126677 - Sequence 107701 from Patent EP1572962. JD226519 - Sequence 207543 from Patent EP1572962. JD547200 - Sequence 528224 from Patent EP1572962. JD171301 - Sequence 152325 from Patent EP1572962. JD148892 - Sequence 129916 from Patent EP1572962. JD254385 - Sequence 235409 from Patent EP1572962. JD068124 - Sequence 49148 from Patent EP1572962. JD042690 - Sequence 23714 from Patent EP1572962. JD126524 - Sequence 107548 from Patent EP1572962. JD178226 - Sequence 159250 from Patent EP1572962. JD501235 - Sequence 482259 from Patent EP1572962. JD399728 - Sequence 380752 from Patent EP1572962. JD055750 - Sequence 36774 from Patent EP1572962. JD049375 - Sequence 30399 from Patent EP1572962. JD207135 - Sequence 188159 from Patent EP1572962. JD304612 - Sequence 285636 from Patent EP1572962. JD161361 - Sequence 142385 from Patent EP1572962. JD548853 - Sequence 529877 from Patent EP1572962. JD372832 - Sequence 353856 from Patent EP1572962. JD260386 - Sequence 241410 from Patent EP1572962. JD155443 - Sequence 136467 from Patent EP1572962. JD502444 - Sequence 483468 from Patent EP1572962. JD218470 - Sequence 199494 from Patent EP1572962. JD419401 - Sequence 400425 from Patent EP1572962. JD250417 - Sequence 231441 from Patent EP1572962. AK303161 - Homo sapiens cDNA FLJ57689 complete cds, highly similar to Synaptic vesicle glycoprotein 2A. JD190832 - Sequence 171856 from Patent EP1572962. JD041601 - Sequence 22625 from Patent EP1572962. AK291718 - Homo sapiens cDNA FLJ75880 complete cds, highly similar to Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA. JD271087 - Sequence 252111 from Patent EP1572962. JD439752 - Sequence 420776 from Patent EP1572962. JD329417 - Sequence 310441 from Patent EP1572962. EU831489 - Synthetic construct Homo sapiens clone HAIB:100066518; DKFZo008H0717 synaptic vesicle glycoprotein 2A protein (SV2A) gene, encodes complete protein. EU831576 - Synthetic construct Homo sapiens clone HAIB:100066605; DKFZo004H0718 synaptic vesicle glycoprotein 2A protein (SV2A) gene, encodes complete protein. AB383970 - Synthetic construct DNA, clone: pF1KSDA0736, Homo sapiens SV2A gene for synaptic vesicle glycoprotein 2A, complete cds, without stop codon, in Flexi system. AM393578 - Synthetic construct Homo sapiens clone IMAGE:100002311 for hypothetical protein (SV2A gene). AK075480 - Homo sapiens cDNA PSEC0174 fis, clone NT2RP2002760, highly similar to SYNAPTIC VESICLE PROTEIN 2. JD309716 - Sequence 290740 from Patent EP1572962. JD436725 - Sequence 417749 from Patent EP1572962. JD062406 - Sequence 43430 from Patent EP1572962. JD042695 - Sequence 23719 from Patent EP1572962. JD150591 - Sequence 131615 from Patent EP1572962. JD464718 - Sequence 445742 from Patent EP1572962. JD310750 - Sequence 291774 from Patent EP1572962. JD357975 - Sequence 338999 from Patent EP1572962. JD113432 - Sequence 94456 from Patent EP1572962. JD400043 - Sequence 381067 from Patent EP1572962. JD526856 - Sequence 507880 from Patent EP1572962. JD166063 - Sequence 147087 from Patent EP1572962. JD374072 - Sequence 355096 from Patent EP1572962. JD523204 - Sequence 504228 from Patent EP1572962. JD227678 - Sequence 208702 from Patent EP1572962.

Biochemical and Signaling Pathways


	Reactome (by CSHL, EBI, and GO) Protein Q7L0J3 (Reactome details) participates in the following event(s): R-HSA-5244415 BoNT/A HC:LC binds SV2A, B, or C and GT1b on the target cell surface R-HSA-5250607 BoNT/D HC:LC binds SV2A or B or C and GD2 on the target cell surface R-HSA-5250880 BoNT/F HC:LC binds SV2A or B or C and GT1b on the target cell surface R-HSA-5244503 BoNT/E HC:LC binds SV2A or B and GT1b on the target cell surface R-HSA-5250968 Toxicity of botulinum toxin type A (BoNT/A) R-HSA-5250955 Toxicity of botulinum toxin type D (BoNT/D) R-HSA-5250981 Toxicity of botulinum toxin type F (BoNT/F) R-HSA-5250992 Toxicity of botulinum toxin type E (BoNT/E) R-HSA-168799 Neurotoxicity of clostridium toxins R-HSA-5339562 Uptake and actions of bacterial toxins R-HSA-5663205 Infectious disease R-HSA-1643685 Disease

Other Names for This Gene


	Alternate Gene Symbols: D3DUZ7, ENST00000369146.1, ENST00000369146.2, ENST00000369146.3, ENST00000369146.4, ENST00000369146.5, ENST00000369146.6, ENST00000369146.7, KIAA0736, NM_014849, O94841, PSEC0174, Q5QNX8, Q7L0J3, Q7Z3L6, Q8NBJ6, Q9BVZ9, SV2A_HUMAN, uc318hjj.1, uc318hjj.2 UCSC ID: ENST00000369146.8_7 RefSeq Accession: NM_014849.5 Protein: Q7L0J3 (aka SV2A_HUMAN)

Gene Model Information


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Methods, Credits, and Use Restrictions


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