Seroatlas · Human Serome Atlas

SV2A

Synaptic vesicle glycoprotein 2A

Also known as: KIAA0736, SV2, SV2A_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q7L0J3
Gene: SV2A
Ensembl: ENSG00000159164
Chromosome: 1
Canonical length: 742 aa
Protein class: FDA approved drug targets, Predicted membrane proteins
Subcellular location: Cytosol

OverviewNCBI Gene

The protein encoded by this gene is one of three related synaptic vesicle proteins. The encoded protein may interact with synaptotagmin to enhance low frequency neurotransmission in quiescent neurons. [provided by RefSeq, Jun 2016]

Canonical amino-acid sequenceUniProt

742 residues, UniProt reviewed canonical sequence.

>Q7L0J3|SV2A
     1  MEEGFRDRAA FIRGAKDIAK EVKKHAAKKV VKGLDRVQDE YSRRSYSRFE EEDDDDDFPA
    61  PSDGYYRGEG TQDEEEGGAS SDATEGHDED DEIYEGEYQG IPRAESGGKG ERMADGAPLA
   121  GVRGGLSDGE GPPGGRGEAQ RRKEREELAQ QYEAILRECG HGRFQWTLYF VLGLALMADG
   181  VEVFVVGFVL PSAEKDMCLS DSNKGMLGLI VYLGMMVGAF LWGGLADRLG RRQCLLISLS
   241  VNSVFAFFSS FVQGYGTFLF CRLLSGVGIG GSIPIVFSYF SEFLAQEKRG EHLSWLCMFW
   301  MIGGVYAAAM AWAIIPHYGW SFQMGSAYQF HSWRVFVLVC AFPSVFAIGA LTTQPESPRF
   361  FLENGKHDEA WMVLKQVHDT NMRAKGHPER VFSVTHIKTI HQEDELIEIQ SDTGTWYQRW
   421  GVRALSLGGQ VWGNFLSCFG PEYRRITLMM MGVWFTMSFS YYGLTVWFPD MIRHLQAVDY
   481  ASRTKVFPGE RVEHVTFNFT LENQIHRGGQ YFNDKFIGLR LKSVSFEDSL FEECYFEDVT
   541  SSNTFFRNCT FINTVFYNTD LFEYKFVNSR LINSTFLHNK EGCPLDVTGT GEGAYMVYFV
   601  SFLGTLAVLP GNIVSALLMD KIGRLRMLAG SSVMSCVSCF FLSFGNSESA MIALLCLFGG
   661  VSIASWNALD VLTVELYPSD KRTTAFGFLN ALCKLAAVLG ISIFTSFVGI TKAAPILFAS
   721  AALALGSSLA LKLPETRGQV LQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SV2A can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 12
Mean surface accessibility (rSASA): 0.3
Highest tissue expression: 115 nTPM

Expression across tissuesHPA

Tissue

cerebral cortex: 115 nTPM
cerebellum: 105 nTPM
hypothalamus: 83 nTPM
basal ganglia: 66 nTPM
hippocampal formation: 62 nTPM
amygdala: 56 nTPM

Single-cell type

retinal amacrine cells: 134 nCPM
brain inhibitory neurons: 131 nCPM
other brain neurons: 93 nCPM
brain excitatory neurons: 84 nCPM
retinal bipolar cells: 61 nCPM
oligodendrocyte progenitor cells: 50 nCPM

Immune cell

T-reg: 0.5 nTPM
basophil: 0.3 nTPM
gdT-cell: 0.3 nTPM
MAIT T-cell: 0.3 nTPM
memory CD4 T-cell: 0.3 nTPM
naive CD8 T-cell: 0.3 nTPM

Brain region

cerebral cortex: 312 nTPM
pons: 188 nTPM
white matter: 183 nTPM
hypothalamus: 178 nTPM
basal ganglia: 168 nTPM
thalamus: 149 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SV2A.

Disease | AllUniProt

Conditions SV2A is implicated in, by any mechanism.

Developmental and epileptic encephalopathy 113 (DEE113) MIM:620772

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 115 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Developmental and epileptic encephalopathy 113
See cases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.41
gnomAD pLI: 0.23
gnomAD missense Z: 2.12
DepMap mean gene effect: -0.23
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SV2A in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

SYT1

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SV2A as an antibody target. Whether an autoantibody or antibody against SV2A could matter depends on whether native SV2A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SV2A is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label SV2A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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