Synaptic Ras-GTPase-Activating Protein 1

Alternative Names

  • SYNGAP1
  • GTPase-Activating Protein, Ras, Synaptic, 135-Kd, Rat, Homolog of
  • Ras-GTPase-Activating Protein, Synaptic, 135-Kd, Rat, Homolog of
  • Synaptic Ras-GTPase-Activating Protein, 135-Kd, Rat, Homolog of
  • SYNGAP, P135, Rat, Homolog of
  • SYNGAP
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OMIM Number

603384

NCBI Gene ID

8831

Uniprot ID

Q96PV0

Length

35,523 bases

No. of Exons

23

No. of isoforms

4

Protein Name

Ras/Rap GTPase-activating protein SynGAP

Molecular Mass

148284 Da

Amino Acid Count

1343

Genomic Location

chr6:33,418,167-33,453,689

Gene Map Locus
6p21.32

Description

This gene encodes a Ras GTPase activating protein that is a member of the N-methyl-D-aspartate receptor complex. The N-terminal domain of the protein contains a Ras-GAP domain, a pleckstrin homology domain, and a C2 domain that may be involved in binding of calcium and phospholipids. The C-terminal domain consists of a ten histidine repeat region, serine and tyrosine phosphorylation sites, and a T/SXV motif required for postsynaptic scaffold protein interaction. The encoded protein negatively regulates Ras, Rap and alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor trafficking to the postsynaptic membrane to regulate synaptic plasticity and neuronal homeostasis. Allelic variants of this gene are associated with intellectual disability and autism spectrum disorder. Alternative splicing results in multiple transcript variants. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_006772.3:c.1677-2A>GSaudi ArabiaNC_000006.12:g.33440727A>GLikely PathogenicLikely PathogenicIntellectual Developmental Disorder, Autosomal Dominant 5NG_016137.2:g.25658A>G; NM_006772.3:c.1677-2A>G; NP_006763.2:p.?21511803611067263
NM_006772.3:c.490C>TSaudi ArabiaNC_000006.12:g.33432787C>TLikely Pathogenic, PathogenicLikely PathogenicIntellectual Developmental Disorder, Autosomal Dominant 5NG_016137.2:g.17718C>T; NM_006772.3:c.490C>T; NP_006763.2:p.Arg164Ter1057518352373327
NM_006772.3:c.739C>TSaudi ArabiaNC_000006.12:g.33435590C>TLikely Pathogenic, PathogenicLikely PathogenicIntellectual Developmental Disorder, Autosomal Dominant 5NG_016137.2:g.20521C>T; NM_006772.3:c.739C>T; NP_006763.2:p.Gln247Ter1554120978496672
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