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Syngap1
Gene Detail
Symbol

Name
ID
Syngap1
synaptic Ras GTPase activating protein 1 homolog (rat)
MGI:3039785
Synonyms
Syngap
Feature Type
protein coding gene
Genetic Map
Chromosome 17
13.60 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr17:26941384-26972434 bp, + strand
From VEGA annotation of GRCm38

  31051 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:84739  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 western clawed frog; 2 zebrafish

HCOP human homology predictions: SYNGAP1
Gene Tree: Syngap1

Human
homologs
SYNGAP1, synaptic Ras GTPase activating protein 1
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 8831
neXtProt AC: NX_Q96PV0

Human Synonyms: MRD5, RASA1, RASA5, SYNGAP

Human Chr (Location): 6p21.3; chr6:33420070-33453689 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human SYNGAP1

Mutations,
alleles, and
phenotypes
All mutations/alleles(10) : Gene trapped(2) Radiation induced(2) Targeted(6)
Genomic Mutations involving Syngap1 (2)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous mutant mice exhibit postnatal lethality, and by P3-P4, exhibit small body size and brain, reduced movement and do not feed.
 
Human Diseases Modeled in Mice Using Syngap1 (1)    Mutations Annotated to Human Diseases (1)   
Gene Ontology
(GO)
classifications
All GO classifications: (33 annotations)
Process dendrite development, negative regulation of axonogenesis, ...
Component cell junction, cytoplasm, ...
Function GTPase activator activity, protein binding, ...
External Resources: FuncBase
Expression
Literature Summary: (3 records)
cDNA source data(3)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase syngap1    NEW 
Molecular
reagents
All nucleic(3) cDNA(3)
Microarray probesets(6)
Other database
links
VEGA Gene Model OTTMUSG00000049838 (Evidence)
Ensembl Gene Model ENSMUSG00000067629 (Evidence)
Entrez Gene 240057 (Evidence)
UniGene 328888
DFCI TC1624908
DoTS DT.97383935, DT.110572293
NIA Mouse Gene Index U132901
Consensus CDS Project CCDS59625.1
International Mouse Phenotyping Consortium Status Syngap1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000049838 VEGA Gene Model | MGI Sequence Detail 31051 C57BL/6J ±  kb
transcript OTTMUST00000126931 VEGA | MGI Sequence Detail 5880 Not Applicable 
polypeptide OTTMUSP00000068605 VEGA | MGI Sequence Detail 1340 Not Applicable 

For the selected sequences
All sequences(60) RefSeq(34) UniProt(3)
Polymorphisms
SNPs within 2kb(99 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR000008 C2 calcium-dependent membrane targeting
InterPro IPR001849 Pleckstrin homology domain
InterPro IPR011993 Pleckstrin homology-like domain
InterPro IPR021887 Protein of unknown function DUF3498
InterPro IPR001936 Ras GTPase-activating protein
InterPro IPR023152 Ras GTPase-activating protein, conserved site
InterPro IPR008936 Rho GTPase activation protein
InterPro IPR023315 SynGAP C2 domain, N-terminal
Protein Ontology PR:000015877 ras GTPase-activating protein SynGAP
References
(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:215492 Ozkan ED, et al., Reduced cognition in Syngap1 mutants is caused by isolated damage within developing forebrain excitatory neurons. Neuron. 2014 Jun 18;82(6):1317-33
All references(38)
Disease annotation references (1)

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
06/23/2015
MGI 5.22
The Jackson Laboratory