SV2C

Summary

SV2C (synaptic vesicle glycoprotein 2C, HGNC:30670) is a protein-coding gene on chromosome 5q13.3, encoding Synaptic vesicle glycoprotein 2C (Q496J9). Plays a role in the control of regulated secretion in neural and endocrine cells, enhancing selectively low-frequency neurotransmission.

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.

Source: NCBI Gene 22987 — RefSeq curated summary.

At a glance

• GWAS associations: 22
• Clinical variants (ClinVar): 112 total
• Druggable target: yes
• MANE Select transcript: NM_014979

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30670
Approved symbol	SV2C
Name	synaptic vesicle glycoprotein 2C
Location	5q13.3
Locus type	gene with protein product
Status	Approved
Aliases	SLC22B3
Ensembl gene	ENSG00000122012
Ensembl biotype	protein_coding
OMIM	610291
Entrez	22987

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding, 1 retained_intron

ENST00000322285, ENST00000502798, ENST00000506257

RefSeq mRNA: 2 — MANE Select: NM_014979 NM_001297716, NM_014979

CCDS: CCDS43331, CCDS75261

Canonical transcript exons

ENST00000502798 — 13 exons

Exon	Start	End
ENSE00000827246	76285781	76285870
ENSE00000827248	76291768	76291856
ENSE00000827256	76285162	76285295
ENSE00001082760	76301386	76301545
ENSE00001082761	76300729	76300932
ENSE00001181038	76325364	76333956
ENSE00001282863	76298794	76298927
ENSE00001282872	76295778	76295942
ENSE00001282881	76291221	76291331
ENSE00001282898	76194919	76195099
ENSE00001485089	76131650	76132330
ENSE00001614398	76209736	76209887
ENSE00002077679	76083383	76083512

Expression profiles

Bgee: expression breadth ubiquitous, 160 present calls, max score 99.25.

FANTOM5 (CAGE): breadth broad, TPM avg 3.1542 / max 249.7553, expressed in 267 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
57098	1.8217	227
57099	0.6075	174
57097	0.3142	117
57096	0.2049	101
57094	0.1224	49
57093	0.0419	17
57095	0.0416	20

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
substantia nigra pars reticulata	UBERON:0001966	99.25	gold quality
substantia nigra pars compacta	UBERON:0001965	98.16	gold quality
dorsal root ganglion	UBERON:0000044	96.67	gold quality
lateral nuclear group of thalamus	UBERON:0002736	96.22	gold quality
lateral globus pallidus	UBERON:0002476	94.18	gold quality
trigeminal ganglion	UBERON:0001675	91.45	gold quality
postcentral gyrus	UBERON:0002581	89.97	gold quality
superior vestibular nucleus	UBERON:0007227	89.91	gold quality
Brodmann (1909) area 23	UBERON:0013554	89.25	gold quality
endothelial cell	CL:0000115	88.16	gold quality
parietal lobe	UBERON:0001872	87.65	gold quality
ventral tegmental area	UBERON:0002691	87.15	gold quality
nucleus accumbens	UBERON:0001882	84.75	gold quality
middle frontal gyrus	UBERON:0002702	83.20	gold quality
putamen	UBERON:0001874	82.86	gold quality
caudate nucleus	UBERON:0001873	82.73	gold quality
midbrain	UBERON:0001891	82.30	gold quality
substantia nigra	UBERON:0002038	82.27	gold quality
middle temporal gyrus	UBERON:0002771	80.68	gold quality
superior frontal gyrus	UBERON:0002661	79.47	gold quality
hypothalamus	UBERON:0001898	79.36	gold quality
medulla oblongata	UBERON:0001896	78.86	gold quality
Brodmann (1909) area 46	UBERON:0006483	78.70	gold quality
primary visual cortex	UBERON:0002436	78.60	gold quality
pons	UBERON:0000988	78.44	gold quality
occipital lobe	UBERON:0002021	77.32	gold quality
orbitofrontal cortex	UBERON:0004167	73.29	silver quality
cerebellar vermis	UBERON:0004720	73.27	silver quality
dorsal plus ventral thalamus	UBERON:0001897	72.93	gold quality
inferior olivary complex	UBERON:0002127	72.18	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-MTAB-6075	yes	27.80
E-HCAD-25	yes	10.27
E-ANND-3	yes	6.98
E-MTAB-8060	no	69.82

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

64 targeting SV2C, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-6753-3P	99.93	66.57	637
HSA-MIR-7107-3P	99.93	66.73	627
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-7845-5P	99.88	64.88	771
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-6817-3P	99.79	68.35	2126
HSA-MIR-4694-3P	99.79	69.53	2640
HSA-MIR-26A-5P	99.78	73.52	2303
HSA-MIR-26B-5P	99.78	73.51	2305
HSA-MIR-548AJ-5P	99.78	71.12	3085

Literature-anchored findings (GeneRIF, showing 10)

• In classical mesial temporal sclerosis 1A, the expression of SV2 isoforms is altered with a selective increase of SV2C in sprouting mossy fibres. (PMID:23617838)
• The fact that multiple SNPs in SV2C may impact response to atypical antipsychotics suggests that further evaluation of SNPs in this gene (PMID:23886675)
• high-resolution crystal structure of the BoNT/A receptor-binding domain in complex with the SV2C luminal domain (PMID:24240280)
• A genetic variant in SV2C predicted clinically relevant bevacizumab-induced hypertension in two independent, randomised phase III trials. (PMID:25117820)
• 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. (PMID:25282537)
• N-linked glycosylation of SV2C is required for binding and uptake of botulinum neurotoxin A. (PMID:27294781)
• 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. (PMID:28246328)
• Identification of Risk Loci for Parkinson Disease in Asians and Comparison of Risk Between Asians and Europeans: A Genome-Wide Association Study. (PMID:32310270)
• Differentiation of two human neuroblastoma cell lines alters SV2 expression patterns. (PMID:33588752)
• Correlation of SV2C rs1423099 single nucleotide polymorphism with sporadic Parkinson’s disease in Han population in Southern China. (PMID:37544580)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	sv2ca	ENSDARG00000059997
mus_musculus	Sv2c	ENSMUSG00000051111
rattus_norvegicus	Sv2c	ENSRNOG00000018094

Paralogs (2): SV2A (ENSG00000159164), SV2B (ENSG00000185518)

Protein

Protein identifiers

Synaptic vesicle glycoprotein 2C — Q496J9 (reviewed: Q496J9)

All UniProt accessions (2): B3KT41, Q496J9

UniProt curated annotations — full annotation on UniProt →

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. (Microbial infection) Receptor for C.botulinum neurotoxin type A (BoNT/A, botA); the toxin probably binds via extracellular loop 4. Recognition by BoNT/A relies on both protein-protein and protein-N-glycosylation; glycosylation of Asn-559 increases its affinity for BoNT/A. Also serves as a receptor for the closely related C.botulinum neurotoxin type A2; glycosylation is not essential but enhances the interaction. (Microbial infection) Possible receptor for C.botulinum neurotoxin type D (BoNT/D, botD); note that type D does not usually infect humans.

Subunit / interactions. Interacts with SYT1 in a calcium-dependent manner. (Microbial infection) Interacts with C.botulinum neurotoxin type A1 and type A2 (BoNT/A, botA). Interaction is improved by glycosylation of SV2.

Subcellular location. Cytoplasmic vesicle. Secretory vesicle. Synaptic vesicle membrane.

Post-translational modifications. N-glycosylated. Upon expression in a kidney cell line the most abundant glycan on Asn-534 is GlcNAc(3)Hex(5), while on Asn-559 and Asn-565 the most abundant glycan is GlcNAc2Fuc1Man3GlcNAc3Gal3. Both Asn-559 and Asn-565 have a high degree of glycan heterogeneity.

Similarity. Belongs to the major facilitator superfamily.

RefSeq proteins (2): NP_001284645, NP_055794* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR005828	MFS_sugar_transport-like	Family
IPR005829	Sugar_transporter_CS	Conserved_site
IPR011701	MFS	Family
IPR020846	MFS_dom	Domain
IPR022308	SV2	Family
IPR036259	MFS_trans_sf	Homologous_superfamily
IPR055415	LD_SV2	Domain

Pfam: PF00083, PF07690, PF23894

UniProt features (61 total): topological domain 13, transmembrane region 12, strand 12, glycosylation site 5, mutagenesis site 5, region of interest 4, modified residue 4, sequence variant 2, chain 1, compositionally biased region 1, sequence conflict 1, helix 1

Structure

Experimental structures (PDB)

6 structures.

PDB	Method	Resolution (Å)
5JLV	X-RAY DIFFRACTION	2
6ES1	X-RAY DIFFRACTION	2
4JRA	X-RAY DIFFRACTION	2.3
5MOY	X-RAY DIFFRACTION	2.3
7UIA	X-RAY DIFFRACTION	2.59
7UIB	X-RAY DIFFRACTION	2.77

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q496J9-F1	77.96	0.32

Antibody-complex structures (SAbDab): 2 — 7UIA, 7UIB

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (4): 75, 76, 79, 466

Glycosylation sites (5): 480, 484, 534, 559, 565

Mutagenesis-validated functional residues (5):

Position	Phenotype
559	no change in interaction with c.botulinum neurotoxin type a heavy chain (bota, bont/a hc). decreased molecular weight pr
559	decreased molecular weight probably due to glycosylation loss, decreased binding to bont/a hc. greater reduction in weig
561	decreased molecular weight probably due to glycosylation loss, decreased binding to bont/a hc.
563	no longer interacts with bont/a hc.
565	decreased molecular weight probably due to glycosylation loss, no change in binding to bont/a heavy chain. greater reduc

Function

Pathways and Gene Ontology

Reactome pathways

8 pathways

ID	Pathway
R-HSA-5250955	Toxicity of botulinum toxin type D (botD)
R-HSA-5250968	Toxicity of botulinum toxin type A (botA)
R-HSA-5250981	Toxicity of botulinum toxin type F (botF)
R-HSA-1643685	Disease
R-HSA-168799	Neurotoxicity of clostridium toxins
R-HSA-5339562	Uptake and actions of bacterial toxins
R-HSA-5663205	Infectious disease
R-HSA-9824439	Bacterial Infection Pathways

MSigDB gene sets: 178 (showing top): GOBP_REGULATION_OF_EXOCYTOSIS, GOBP_NEUROTRANSMITTER_TRANSPORT, GOBP_VESICLE_MEDIATED_TRANSPORT, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, GOBP_CELL_CELL_SIGNALING, GOBP_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT, GOBP_EXOCYTOSIS, GOBP_REGULATION_OF_NEUROTRANSMITTER_TRANSPORT, GOBP_SECRETION, GOBP_REGULATION_OF_REGULATED_SECRETORY_PATHWAY, GOBP_SIGNAL_RELEASE, GOBP_SYNAPTIC_SIGNALING, GOBP_REGULATION_OF_TRANSPORT, GOBP_TRANSMEMBRANE_TRANSPORT, GOCC_EXOCYTIC_VESICLE

GO Biological Process (4): neurotransmitter transport (GO:0006836), chemical synaptic transmission (GO:0007268), regulation of synaptic vesicle exocytosis (GO:2000300), transmembrane transport (GO:0055085)

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

GO Cellular Component (7): plasma membrane (GO:0005886), synaptic vesicle (GO:0008021), synaptic vesicle membrane (GO:0030672), dopaminergic synapse (GO:0098691), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410), synapse (GO:0045202)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
Neurotoxicity of clostridium toxins	3
Uptake and actions of bacterial toxins	1
Bacterial Infection Pathways	1
Disease	1
Infectious disease	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transport	2
anterograde trans-synaptic signaling	1
synaptic vesicle exocytosis	1
regulation of neurotransmitter secretion	1
regulation of regulated secretory pathway	1
cellular process	1
transporter activity	1
transmembrane transport	1
binding	1
membrane	1
cell periphery	1
exocytic vesicle	1
presynapse	1
synaptic vesicle	1
exocytic vesicle membrane	1
synapse	1
cellular anatomical structure	1
cytoplasm	1
intracellular vesicle	1
cell junction	1

Protein interactions and networks

STRING

1134 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SV2C	GP2	P55259	919
SV2C	SYT1	P21579	596
SV2C	SYT2	Q8N9I0	596
SV2C	SNAP25	P13795	519
SV2C	SLC67A2	Q8NBP5	489
SV2C	VAMP2	P19065	489
SV2C	SLC32A1	Q9H598	483
SV2C	INS	P01308	478
SV2C	RAB3C	Q96E17	467
SV2C	SNAP23	O00161	464
SV2C	SLC18A2	Q05940	444
SV2C	UNC93A	Q86WB7	440
SV2C	MFSD11	O43934	439
SV2C	IMMT	Q16891	438
SV2C	SLC61A1	Q6N075	433

IntAct

9 interactions, top by confidence:

A	B	Type	Score
botA	SV2C	psi-mi:“MI:0407”(direct interaction)	0.620
SV2C	EXTL3	psi-mi:“MI:0914”(association)	0.530
SV2C	UBE4A	psi-mi:“MI:0914”(association)	0.350
SV2C	TIMM23	psi-mi:“MI:0914”(association)	0.350
MAPT	DCTN6	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (41): ABCC10 (Affinity Capture-MS), ABHD17B (Affinity Capture-MS), EXTL3 (Affinity Capture-MS), VANGL2 (Affinity Capture-MS), UBE4A (Affinity Capture-MS), UFD1L (Affinity Capture-MS), SV2C (Affinity Capture-Western), UBE4A (Affinity Capture-MS), FAM63A (Affinity Capture-MS), UFD1L (Affinity Capture-MS), VANGL2 (Affinity Capture-MS), NPLOC4 (Affinity Capture-MS), ABHD17B (Affinity Capture-MS), SV2C (Affinity Capture-MS), SV2C (Proximity Label-MS)

ESM2 similar proteins: A2X8A7, A2Y8U6, A6ZIQ8, B8AF63, B8AT51, B8BDK8, B9FMX4, F4IKF6, G2WS43, O22216, O35776, O57424, O57427, O80605, P70312, Q02563, Q0JAW2, Q0VA82, Q29397, Q2UMJ2, Q2V4F9, Q3TIT8, Q3TMP8, Q496J9, Q4R4X3, Q5EAU0, Q5F361, Q5F3N0, Q5R4L9, Q5ZL05, Q658H5, Q69ZS6, Q6EPQ3, Q6GPQ3, Q6YK44, Q7L0J3, Q8BH31, Q8BM85, Q8GY97, Q8NCC5

Diamond homologs: A0A0J9SZQ5, P43427, Q06222, Q09039, Q496J9, Q5RET7, Q69ZS6, Q700M0, Q7KWJ5, Q7RR38, Q863Y9, Q8I762, Q8MUM2, Q90592, Q9Z2I6, A0A1C7E424, A1A9U9, A1DWM3, A1JN04, A7ZKF6, A7ZZ10, A8AI28, A8GCZ5, A9MH10, A9N5Q9, B1IV49, B1LIV8, B1X9G6, B4EYY4, B4T2Y5, B4TES5, B4TSR5, B5BBD5, B5F954, B5FL11, B5QY11, B5XXK2, B6I9D0, B7LFG4, B7LT82

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	94
Likely benign	11
Benign	7

Top pathogenic / likely-pathogenic (0)

SpliceAI

3159 predictions. Top by Δscore:

Variant	Effect	Δscore
5:76131645:C:CA	acceptor_gain	1.0000
5:76131646:GCAGT:G	acceptor_loss	1.0000
5:76131647:CAGTT:C	acceptor_loss	1.0000
5:76131648:A:AG	acceptor_gain	1.0000
5:76131649:G:GC	acceptor_gain	1.0000
5:76131649:GT:G	acceptor_gain	1.0000
5:76131649:GTT:G	acceptor_gain	1.0000
5:76131649:GTTC:G	acceptor_gain	1.0000
5:76131649:GTTCT:G	acceptor_gain	1.0000
5:76209725:C:G	acceptor_gain	1.0000
5:76209734:A:AG	acceptor_gain	1.0000
5:76209735:G:GG	acceptor_gain	1.0000
5:76209884:TACGG:T	donor_loss	1.0000
5:76209885:ACGG:A	donor_loss	1.0000
5:76209886:CGGTA:C	donor_loss	1.0000
5:76209887:GGTA:G	donor_loss	1.0000
5:76209888:G:GG	donor_gain	1.0000
5:76209888:GTAA:G	donor_loss	1.0000
5:76209889:T:A	donor_loss	1.0000
5:76285869:CGGT:C	donor_loss	1.0000
5:76285871:G:GG	donor_gain	1.0000
5:76285872:TGAGT:T	donor_loss	1.0000
5:76285873:G:GT	donor_loss	1.0000
5:76291329:GGA:G	donor_gain	1.0000
5:76291330:GA:G	donor_gain	1.0000
5:76291330:GAG:G	donor_gain	1.0000
5:76291332:G:GG	donor_gain	1.0000
5:76295253:C:G	donor_gain	1.0000
5:76295867:A:G	donor_gain	1.0000
5:76300931:AGG:A	donor_loss	1.0000

AlphaMissense

4819 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:76285203:T:A	W319R	1.000
5:76285203:T:C	W319R	1.000
5:76285205:G:C	W319C	1.000
5:76285205:G:T	W319C	1.000
5:76285275:A:C	S343R	1.000
5:76285277:C:A	S343R	1.000
5:76285277:C:G	S343R	1.000
5:76285812:T:C	L360P	1.000
5:76132225:G:C	G159R	0.999
5:76132226:G:A	G159D	0.999
5:76194948:G:A	G204R	0.999
5:76194948:G:C	G204R	0.999
5:76194949:G:A	G204E	0.999
5:76194988:G:C	R217T	0.999
5:76194988:G:T	R217M	0.999
5:76194989:G:C	R217S	0.999
5:76194989:G:T	R217S	0.999
5:76209812:A:C	S280R	0.999
5:76209814:C:A	S280R	0.999
5:76209814:C:G	S280R	0.999
5:76209839:G:C	G289R	0.999
5:76285823:C:G	H364D	0.999
5:76285824:A:C	H364P	0.999
5:76285834:C:A	N367K	0.999
5:76285834:C:G	N367K	0.999
5:76285865:T:C	F378L	0.999
5:76285866:T:C	F378S	0.999
5:76285866:T:G	F378C	0.999
5:76285867:C:A	F378L	0.999
5:76285867:C:G	F378L	0.999

dbSNP variants (sampled 300 via entrez): RS1000001489 (5:76232388 T>G), RS1000013432 (5:75853911 C>T), RS1000015690 (5:76224591 T>C), RS1000025071 (5:76020611 G>T), RS1000026689 (5:76012328 G>A), RS1000032544 (5:76345518 G>T), RS1000038401 (5:76101132 G>C), RS1000049714 (5:75851305 A>G), RS1000059132 (5:75888146 G>A), RS1000061887 (5:75867810 C>A,T), RS1000063949 (5:75893724 A>G), RS1000066761 (5:75880020 G>A), RS1000069925 (5:76034749 T>C), RS1000072234 (5:76055842 C>G), RS1000077252 (5:76237822 G>A)

Disease associations

OMIM: gene MIM:610291 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

22 associations (top):

Study	Trait	p-value
GCST002012_8	Venous thromboembolism	8.000000e-06
GCST002566_1	Response to chemotherapy in breast cancer hypertensive cases (cumulative dose) (bevacizumab)	5.000000e-08
GCST002567_1	Response to chemotherapy in breast cancer (hypertension) (bevacizumab)	6.000000e-08
GCST003944_35	Hepcidin/ferritin ratio	8.000000e-06
GCST004602_36	Mean corpuscular volume	3.000000e-11
GCST004904_71	Body mass index	8.000000e-27
GCST007094_39	Diastolic blood pressure	5.000000e-19
GCST007098_94	Diastolic blood pressure	1.000000e-09
GCST007098_95	Diastolic blood pressure	2.000000e-07
GCST008473_39	Visceral fat	8.000000e-06
GCST009144_19	Disease progression in age-related macular degeneration (adjusted for baseline)	7.000000e-08
GCST010049_10	Parkinson’s disease	6.000000e-10
GCST012597_4	Attention deficit hyperactivity disorder	8.000000e-07
GCST90002385_287	High light scatter reticulocyte count	1.000000e-11
GCST90002386_32	High light scatter reticulocyte percentage of red cells	2.000000e-09
GCST90002386_33	High light scatter reticulocyte percentage of red cells	7.000000e-10
GCST90002392_629	Mean corpuscular volume	4.000000e-09
GCST90002395_674	Mean platelet volume	1.000000e-14
GCST90002395_675	Mean platelet volume	3.000000e-23
GCST90002402_770	Platelet count	8.000000e-15
GCST90002404_209	Red cell distribution width	9.000000e-11
GCST90002405_67	Reticulocyte count	5.000000e-09

EFO canonical traits (9, from GWAS)

EFO ID	Trait name
EFO:0005944	cumulative dose response to bevacizumab
EFO:0005943	response to bevacizumab
EFO:0007901	hepcidin:ferritin ratio
EFO:0004340	body mass index
EFO:0006336	diastolic blood pressure
EFO:0008336	disease progression measurement
EFO:0007986	reticulocyte count
EFO:0004309	platelet count
EFO:0009188	Red cell distribution width

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4665594 (PROTEIN FAMILY)

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

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs11960832	Efficacy	3	olanzapine	Schizophrenia

PharmGKB variants

16 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs31244	SV2C		0.00	0
rs1995380	SV2C		0.00	0
rs1995381	SV2C		0.00	0
rs2112865	SV2C		0.00	0
rs2134227	SV2C		0.00	0
rs2270927	SV2C		0.00	0
rs2358531	SV2C		0.00	0
rs4580760	SV2C		0.00	0
rs6874435	SV2C		0.00	0
rs6882321	SV2C		0.00	0
rs7732173	SV2C		0.00	0
rs10214163	SV2C		0.00	0
rs10514062	SV2C		0.00	0
rs11960832	SV2C	3	2.00	1	olanzapine
rs12522597	SV2C		0.00	0
rs12655684	SV2C		0.00	0

CTD chemical–gene interactions

22 total (human), top 22 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
methylmercuric chloride	decreases expression, increases expression	2
trichostatin A	affects cotreatment, increases expression	2
sodium arsenite	increases expression, affects methylation	2
Vorinostat	affects cotreatment, increases expression	2
Panobinostat	increases expression, affects cotreatment	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Valproic Acid	increases expression	2
Aflatoxin B1	decreases methylation, increases methylation	2
arsenite	increases methylation	1
trisialoganglioside GT1	affects cotreatment, decreases reaction, affects binding	1
mercuric bromide	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	affects methylation	1
Doxorubicin	decreases expression	1
Nickel	decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Sodium Chloride	affects binding, affects cotreatment, decreases reaction	1
8-Bromo Cyclic Adenosine Monophosphate	increases expression	1
Botulinum Toxins, Type A	affects cotreatment, decreases reaction, affects binding	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_F1TM	HyCyte SH-SY5Y KO-hSV2A hSV2C	Cancer cell line	Female

Clinical trials (associated diseases)

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