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Sv2a Gene Detail
Summary
  • Symbol
    Sv2a
  • Name
    synaptic vesicle glycoprotein 2a
  • Feature Type
    protein coding gene
  • IDs
    MGI:1927139
    NCBI Gene: 64051
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:96088543-96102499 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 41.65 cM, cytoband F2
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    301 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1927139
 protein coding gene Chr3:96088467-96102837 (+)
129S1/SvImJ MGP_129S1SvImJ_G0027607
 protein coding gene Chr3:96993191-97007563 (+)
A/J MGP_AJ_G0027566
 protein coding gene Chr3:93948268-93963210 (+)
AKR/J MGP_AKRJ_G0027533
 protein coding gene Chr3:96145119-96161170 (+)
BALB/cJ MGP_BALBcJ_G0027578
 protein coding gene Chr3:93728302-93742600 (+)
C3H/HeJ MGP_C3HHeJ_G0027311
 protein coding gene Chr3:96435124-96450412 (+)
C57BL/6NJ MGP_C57BL6NJ_G0028026
 protein coding gene Chr3:100544394-100562506 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0025366
 protein coding gene Chr3:90271227-90285580 (+)
CAST/EiJ MGP_CASTEiJ_G0026761
 protein coding gene Chr3:95720101-95741556 (+)
CBA/J MGP_CBAJ_G0027288
 protein coding gene Chr3:104228842-104246597 (+)
DBA/2J MGP_DBA2J_G0027427
 protein coding gene Chr3:93244926-93260239 (+)
FVB/NJ MGP_FVBNJ_G0027398
 protein coding gene Chr3:91316027-91330452 (+)
LP/J MGP_LPJ_G0027536
 protein coding gene Chr3:98301908-98318406 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0027425
 protein coding gene Chr3:110333431-110347747 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0028080
 protein coding gene Chr3:95781918-95797074 (+)
PWK/PhJ MGP_PWKPhJ_G0026489
 protein coding gene Chr3:93136187-93150628 (+)
SPRET/EiJ MGP_SPRETEiJ_G0026310
 protein coding gene Chr3:94086377-94100779 (+)
WSB/EiJ MGP_WSBEiJ_G0026843
 protein coding gene Chr3:96178709-96193865 (+)



Homology
more
  • Human Ortholog
    SV2A, synaptic vesicle glycoprotein 2A
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SV2A, synaptic vesicle glycoprotein 2A
  • Synonyms
    DEE113, SLC22B1, SV2
  • Links
    NCBI Gene ID: 9900
    neXtProt AC: NX_Q7L0J3
    UniProt: Q7L0J3

  • Chr Location
    1q21.2; chr1:149903318-149917844 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human SV2A associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    9 phenotypes from 2 alleles in 3 genetic backgrounds
    8 phenotypes from multigenic genotypes
    27 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygotes for targeted null mutations exhibit seizures, retarded growth, and reduced hippocampal (GABA)ergic neurotransmission. Many mutants die shortly after birth, and all are dead by three weeks of age.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    25
  • GO References
    14
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    1427
  • Tissues
    297
  • cDNA Data
    11
  • Literature Summary
    50
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 64051 NCBI Gene Model | MGI Sequence Detail 13957 C57BL/6J ±  kb
    transcript NM_022030 RefSeq | MGI Sequence Detail 3920 C57BL/6  
    polypeptide Q9JIS5 UniProt | EBI | MGI Sequence Detail 742 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      1 Sequence
    • Protein Ontology
      PR:000015849 synaptic vesicle glycoprotein 2A
      (term hierarchy)
    • InterPro Domains
      IPR005828 Major facilitator, sugar transporter-like
      IPR011701 Major facilitator superfamily
      IPR020846 Major facilitator superfamily domain
      IPR036259 MFS transporter superfamily
      IPR005829 Sugar transporter, conserved site
      IPR022308 Synaptic vesicle protein SV2
    • GlyGen
      Q9JIS5 4 sites, 11 N-linked glycans (3 sites), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 12
      cDNA 11
      Primer pair 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2139787
    References
    more
    • Summaries
      All 114
      Developmental Gene Expression 50
      Diseases 1
      Gene Ontology 14
      Phenotypes 27
    • Earliest
      J:33098 Gautam M, et al., Defective neuromuscular synaptogenesis in agrin-deficient mutant mice. Cell. 1996 May 17;85(4):525-35
    • Latest
      J:345823 Izquierdo-Villalba I, et al., A mammalian-specific Alex3/Galpha(q) protein complex regulates mitochondrial trafficking, dendritic complexity, and neuronal survival. Sci Signal. 2024 Feb 6;17(822):eabq1007
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory