Gene
syngap1b
- ID
- ZDB-GENE-100921-2
- Name
- synaptic Ras GTPase activating protein 1b
- Symbol
- syngap1b Nomenclature History
- Previous Names
-
- syngap1
- si:dkey-246f6.1
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Predicted to enable GTPase activator activity. Acts upstream of or within brain morphogenesis and swimming behavior. Is expressed in hindbrain and optic tectum. Used to study autism spectrum disorder. Human ortholog(s) of this gene implicated in autosomal dominant intellectual developmental disorder 5. 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
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 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M9NZ00
|
1391 | |||||||||
|
UniProtKB:A0A8M9NZ04
|
1355 | |||||||||
|
UniProtKB:A0A8M9PM32
|
1419 | |||||||||
|
UniProtKB:A0A8M9PM37
|
1380 | |||||||||
|
UniProtKB:A0A8M9PCU4
|
1428 | |||||||||
|
UniProtKB:E7F1U4
|
1507 | |||||||||
|
UniProtKB:A0A8M9P7N6
|
1447 | |||||||||
|
UniProtKB:A0A8M9NYZ5
|
1449 | |||||||||
|
UniProtKB:A0A8M9PJ45
|
1394 | |||||||||
|
UniProtKB:A0A8M9P7P3
|
1341 | |||||||||
|
UniProtKB:A0A8M9PM42
|
1257 | |||||||||
|
UniProtKB:A0A8M9PCV2
|
1297 | |||||||||
|
UniProtKB:A0A8M9P7P0
|
1383 | |||||||||
|
UniProtKB:A0A8M9PJ51
|
1372 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
syngap1b-201
(1)
|
Ensembl | 7,229 nt | ||
| mRNA |
syngap1b-202
(1)
|
Ensembl | 7,300 nt |
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance