Gene

rapgef2a

ID

ZDB-GENE-090313-280

Name

Rap guanine nucleotide exchange factor 2a

Symbol

rapgef2a Nomenclature History

Previous Names

si:dkey-253i9.4

Type

protein_coding_gene

Location

Chr: 1 Mapping Details/Browsers

Description

Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in Ras protein signal transduction and positive regulation of GTPase activity. Predicted to act upstream of or within cell differentiation; regulation of cell population proliferation; and small GTPase mediated signal transduction. Predicted to be located in several cellular components, including cell junction; late endosome; and perinuclear region of cytoplasm. Predicted to be active in apical plasma membrane and endocytic vesicle. Human ortholog(s) of this gene implicated in familial adult myoclonic epilepsy 7. Orthologous to human RAPGEF2 (Rap guanine nucleotide exchange factor 2).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

No data available

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With rapgef2a Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
familial adult myoclonic epilepsy 7	Alliance	?Epilepsy, familial adult myoclonic, 7	618075

Associated With rapgef2a Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR000159	Ras-associating domain
Domain	IPR000595	Cyclic nucleotide-binding domain
Domain	IPR000651	Ras-like guanine nucleotide exchange factor, N-terminal
Domain	IPR001478	PDZ domain
Domain	IPR001895	Ras guanine-nucleotide exchange factors catalytic domain
Homologous_superfamily	IPR014710	RmlC-like jelly roll fold
Homologous_superfamily	IPR018490	Cyclic nucleotide-binding domain superfamily
Homologous_superfamily	IPR023578	Ras guanine nucleotide exchange factor domain superfamily
Homologous_superfamily	IPR036034	PDZ superfamily
Homologous_superfamily	IPR036964	Ras guanine-nucleotide exchange factor, catalytic domain superfamily

Domain Details Per Protein

Protein	Length	Cyclic nucleotide-binding domain	Cyclic nucleotide-binding domain superfamily	PDZ domain	PDZ superfamily	Ras-associating domain	Ras guanine-nucleotide exchange factor, catalytic domain superfamily	Ras guanine nucleotide exchange factor domain superfamily	Ras guanine-nucleotide exchange factors catalytic domain	Ras-like guanine nucleotide exchange factor, N-terminal	RmlC-like jelly roll fold
UniProtKB:A0A8M2BI47 InterPro	1481
UniProtKB:A0A8M9P7X3 InterPro	1473
UniProtKB:A0A8M3B0C8 InterPro	1473
UniProtKB:A0A8M9Q3R2 InterPro	1328
UniProtKB:A0A8M9PTA4 InterPro	1486
UniProtKB:A0A8M9PZ97 InterPro	1481
UniProtKB:A0A8M9PPT1 InterPro	1328
UniProtKB:A0A8M2BI89 InterPro	1478
UniProtKB:A0A8M9PRB5 InterPro	1328
UniProtKB:A0A8M2BIN3 InterPro	1486
UniProtKB:A0A8M9PX58 InterPro	1478
UniProtKB:A0A8M9QEB1 InterPro	1473
UniProtKB:A0A8M9Q0H8 InterPro	1481
UniProtKB:A0A8M9PG90 InterPro	1359
UniProtKB:A0A8M9PIT0 InterPro	1359
UniProtKB:A0A8M9PPS6 InterPro	1486
UniProtKB:A0A8M9PY24 InterPro	1478
UniProtKB:A0A8M3AHX7 InterPro	1359

Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	rapgef2a-201 (1) Ensembl	Ensembl	8,333 nt	Select Tool ZFIN BLAST
mRNA	rapgef2a-202 (1) Ensembl	Ensembl	5,029 nt	Select Tool ZFIN BLAST
mRNA	rapgef2a-203 (1) Ensembl	Ensembl	8,309 nt	Select Tool ZFIN BLAST
mRNA	rapgef2a-204 (1) Ensembl	Ensembl	4,729 nt	Select Tool ZFIN BLAST
ncRNA	si:dkey-253i9.4-002 (1) Ensembl	Ensembl	535 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations