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 have GTPase activator activity. Involved in brain morphogenesis and swimming behavior. Human ortholog(s) of this gene implicated in autosomal dominant non-syndromic intellectual disability 5. Is expressed in hindbrain and optic tectum. Orthologous to human SYNGAP1 (synaptic Ras GTPase activating protein 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

2 figures from 2 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 7 figures from 3 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With syngap1b Human Ortholog

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

Associated With syngap1b Via Experimental Models

Human Disease	Fish	Conditions	Citations
autism spectrum disorder	syngap1b^tup1a/+ (NHGRI-1)	standard conditions	Colón-Rodríguez et al., 2020
autism spectrum disorder	syngap1b^tup1a/tup1a (NHGRI-1)	standard conditions	Colón-Rodríguez et al., 2020

Gene Ontology

Protein Domains

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 InterPro	1391
UniProtKB:A0A8M9NZ04 InterPro	1355
UniProtKB:A0A8M9PM32 InterPro	1419
UniProtKB:A0A8M9PM37 InterPro	1380
UniProtKB:A0A8M9PCU4 InterPro	1428
UniProtKB:E7F1U4 InterPro	1507
UniProtKB:A0A8M9P7N6 InterPro	1447
UniProtKB:A0A8M9NYZ5 InterPro	1449
UniProtKB:A0A8M9PJ45 InterPro	1394
UniProtKB:A0A8M9P7P3 InterPro	1341
UniProtKB:A0A8M9PM42 InterPro	1257
UniProtKB:A0A8M9PCV2 InterPro	1297
UniProtKB:A0A8M9P7P0 InterPro	1383
UniProtKB:A0A8M9PJ51 InterPro	1372