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 have GTPase activator activity and Rap guanyl-nucleotide exchange factor activity. Predicted to be involved in positive regulation of GTPase activity; regulation of cell population proliferation; and small GTPase mediated signal transduction. 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
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
familial adult myoclonic epilepsy 7 | Alliance | ?Epilepsy, familial adult myoclonic, 7 | 618075 |
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
|
1481 | ||||||||||
UniProtKB:A0A8M9P7X3
|
1473 | ||||||||||
UniProtKB:A0A8M3B0C8
|
1473 | ||||||||||
UniProtKB:A0A8M9Q3R2
|
1328 | ||||||||||
UniProtKB:A0A8M9PTA4
|
1486 | ||||||||||
UniProtKB:A0A8M9PZ97
|
1481 | ||||||||||
UniProtKB:A0A8M9PPT1
|
1328 | ||||||||||
UniProtKB:A0A8M2BI89
|
1478 | ||||||||||
UniProtKB:A0A8M9PRB5
|
1328 | ||||||||||
UniProtKB:A0A8M2BIN3
|
1486 | ||||||||||
UniProtKB:A0A8M9PX58
|
1478 | ||||||||||
UniProtKB:A0A8M9QEB1
|
1473 | ||||||||||
UniProtKB:A0A8M9Q0H8
|
1481 | ||||||||||
UniProtKB:A0A8M9PG90
|
1359 | ||||||||||
UniProtKB:A0A8M9PIT0
|
1359 | ||||||||||
UniProtKB:A0A8M9PPS6
|
1486 | ||||||||||
UniProtKB:A0A8M9PY24
|
1478 | ||||||||||
UniProtKB:A0A8M3AHX7
|
1359 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
rapgef2a-201
(1)
|
Ensembl | 8,333 nt | ||
mRNA |
rapgef2a-202
(1)
|
Ensembl | 5,029 nt | ||
mRNA |
rapgef2a-203
(1)
|
Ensembl | 8,309 nt | ||
mRNA |
rapgef2a-204
(1)
|
Ensembl | 4,729 nt | ||
ncRNA |
si:dkey-253i9.4-002
(1)
|
Ensembl | 535 nt |
Interactions and Pathways
No data available
Plasmids
No data available