Gene
syngap1a
- ID
- ZDB-GENE-060503-370
- Name
- synaptic Ras GTPase activating protein 1a
- Symbol
- syngap1a Nomenclature History
- Previous Names
-
- si:dkeyp-24a7.8
- Type
- protein_coding_gene
- Location
- Chr: 19 Mapping Details/Browsers
- Description
- Predicted to be involved in regulation of GTPase activity and signal transduction. Human ortholog(s) of this gene implicated in autosomal dominant non-syndromic intellectual disability 5. Is expressed in forebrain and hindbrain. Orthologous to human SYNGAP1 (synaptic Ras GTPase activating protein 1).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Thyme et al., 2019
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
autosomal dominant intellectual developmental disorder 5 | Alliance | Intellectual developmental disorder, autosomal dominant 5 | 612621 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Conserved_site | IPR023152 | Ras GTPase-activating protein, conserved site |
Domain | IPR000008 | C2 domain |
Domain | IPR001849 | Pleckstrin homology domain |
Domain | IPR001936 | Ras GTPase-activating domain |
Domain | IPR021887 | Disabled homolog 2-interacting protein, C-terminal domain |
Domain | IPR037779 | SynGAP, PH domain |
Family | IPR039360 | Ras GTPase-activating protein |
Homologous_superfamily | IPR008936 | Rho GTPase activation protein |
Homologous_superfamily | IPR011993 | PH-like domain superfamily |
Homologous_superfamily | IPR035892 | C2 domain superfamily |
Domain Details Per Protein
Protein | Length | C2 domain | C2 domain superfamily | Disabled homolog 2-interacting protein, C-terminal domain | PH-like domain superfamily | Pleckstrin homology domain | Ras GTPase-activating domain | Ras GTPase-activating protein | Ras GTPase-activating protein, conserved site | Rho GTPase activation protein | SynGAP, PH domain |
---|---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:A0A8M1RP05
|
1311 | ||||||||||
UniProtKB:A0A8M2B5U5
|
1313 | ||||||||||
UniProtKB:A0A8M2B5U2
|
1295 | ||||||||||
UniProtKB:A0A8M3AJW4
|
691 | ||||||||||
UniProtKB:A0A8M3AS94
|
1210 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
syngap1a-201
(1)
|
Ensembl | 4,480 nt | ||
mRNA |
syngap1a-202
(1)
|
Ensembl | 3,768 nt |
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance