Gene
rapgef2b
- ID
- ZDB-GENE-030131-6959
- Name
- Rap guanine nucleotide exchange factor 2b
- Symbol
- rapgef2b Nomenclature History
- Previous Names
-
- rapgef2
- fa11h07
- wu:fa11h07
- Type
- protein_coding_gene
- Location
- Chr: 14 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
- 1 Figure from Ebarasi et al., 2009
- 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 | IPR029071 | Ubiquitin-like 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 | Ubiquitin-like domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A2R8QLQ3
|
1607 | |||||||||||
|
UniProtKB:A0A8M3ASA2
|
1538 | |||||||||||
|
UniProtKB:A0A8M6Z2S8
|
1629 | |||||||||||
|
UniProtKB:A0A8M6Z9Y2
|
1626 | |||||||||||
|
UniProtKB:A0A8M6Z291
|
1473 | |||||||||||
|
UniProtKB:A0A8M6Z9Y5
|
1518 | |||||||||||
|
UniProtKB:A0A8M6Z4A7
|
1601 | |||||||||||
|
UniProtKB:A0A8M6Z2T1
|
1604 | |||||||||||
|
UniProtKB:A0A8M6Z9J4
|
1634 | |||||||||||
|
UniProtKB:A0A0R4IBW6
|
1618 | |||||||||||
|
UniProtKB:A0A8M6Z4A2
|
1628 | |||||||||||
|
UniProtKB:A0A8M6Z286
|
1612 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
rapgef2b-203
(1)
|
Ensembl | 897 nt | ||
| mRNA |
rapgef2b-204
(1)
|
Ensembl | 6,517 nt | ||
| mRNA |
rapgef2b-206
(1)
|
Ensembl | 9,514 nt | ||
| mRNA |
rapgef2b-207
(1)
|
Ensembl | 9,037 nt | ||
| mRNA |
rapgef2b-208
(1)
|
Ensembl | 9,210 nt | ||
| mRNA |
rapgef2b-209
(1)
|
Ensembl | 9,067 nt | ||
| mRNA |
rapgef2b-210
(1)
|
Ensembl | 9,487 nt | ||
| mRNA |
rapgef2b-211
(1)
|
Ensembl | 9,550 nt | ||
| ncRNA |
rapgef2b-201
(1)
|
Ensembl | 772 nt | ||
| ncRNA |
rapgef2b-202
(1)
|
Ensembl | 307 nt |
Interactions and Pathways
No data available
Plasmids
No data available