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Syngap1 Gene Detail
Summary
  • Symbol
    Syngap1
  • Name
    synaptic Ras GTPase activating protein 1 homolog (rat)
  • Synonyms
    Syngap
  • Feature Type
    protein coding gene
  • IDs
    MGI:3039785
    NCBI Gene: 240057
  • Gene Overview
    MyGene.info: SYNGAP1
Location & Maps
more
  • Sequence Map
    Chr17:26941253-26972434 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      31182 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 17, 13.60 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    SYNGAP1, synaptic Ras GTPase activating protein 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SYNGAP1, synaptic Ras GTPase activating protein 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    MRD5, RASA1, RASA5, SYNGAP
  • Links
    NCBI Gene ID: 8831
    neXtProt AC: NX_Q96PV0

  • Chr Location
    6p21.32; chr6:33420070-33453689 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Syngap1 mouse models; 1 with human SYNGAP1 associations

Human Disease Mouse Models
       Schizophrenia; SCZD   OMIM: 181500 View 1 model
       Mental Retardation, Autosomal Dominant 5; MRD5   OMIM: 612621
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    40 phenotypes from 5 alleles in 6 genetic backgrounds
    8 phenotypes from multigenic genotypes
    21 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.
  • All Mutations and Alleles
    10
  • Gene trapped
    2
  • Radiation induced
    2
  • Targeted
    6
  • Genomic Mutations
    2 involving Syngap1
  • Incidental Mutations
Homozygous mutant mice exhibit postnatal lethality, and by P3-P4, exhibit small body size and brain, reduced movement and do not feed.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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  • cDNA Data
  • Literature Summary
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000049838 VEGA Gene Model | MGI Sequence Detail 31182 C57BL/6J ±  kb
transcript OTTMUST00000126931 VEGA | MGI Sequence Detail 6011 Not Applicable  
polypeptide OTTMUSP00000068605 VEGA | MGI Sequence Detail 1340 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    99 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 3
    cDNA 3

    Microarray probesets 6
References
more
  • Summaries
    All 38
    Developmental Gene Expression 3
    Diseases 1
    Gene Ontology 12
    Phenotypes 21
  • Earliest
    J:98903 Komiyama NH, et al., SynGAP regulates ERK/MAPK signaling, synaptic plasticity, and learning in the complex with postsynaptic density 95 and NMDA receptor. J Neurosci. 2002 Nov 15;22(22):9721-32
  • Latest
    J:235121 Aceti M, et al., Syngap1 haploinsufficiency damages a postnatal critical period of pyramidal cell structural maturation linked to cortical circuit assembly. Biol Psychiatry. 2015 May 1;77(9):805-15

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory