Gene
plekhg5b
- ID
- ZDB-GENE-090908-6
- Name
- pleckstrin homology domain containing, family G (with RhoGef domain) member 5b
- Symbol
- plekhg5b Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Predicted to have guanyl-nucleotide exchange factor activity. Involved in angiogenesis and blood vessel endothelial cell migration. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease recessive intermediate C and distal spinal muscular atrophy type 4. Orthologous to human PLEKHG5 (pleckstrin homology and RhoGEF domain containing G5).
- 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
- 3 figures from Ernkvist et al., 2009
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive distal hereditary motor neuronopathy 4 | Alliance | Neuronopathy, distal hereditary motor, autosomal recessive 4 | 611067 |
| Charcot-Marie-Tooth disease recessive intermediate C | Alliance | Charcot-Marie-Tooth disease, recessive intermediate C | 615376 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000219 | Dbl homology (DH) domain |
| Domain | IPR001849 | Pleckstrin homology domain |
| Family | IPR040181 | Pleckstrin homology domain-containing family G member 5/7 |
| Homologous_superfamily | IPR011993 | PH-like domain superfamily |
| Homologous_superfamily | IPR029071 | Ubiquitin-like domain superfamily |
| Homologous_superfamily | IPR035899 | Dbl homology (DH) domain superfamily |
Domain Details Per Protein
| Protein | Length | Dbl homology (DH) domain | Dbl homology (DH) domain superfamily | PH-like domain superfamily | Pleckstrin homology domain | Pleckstrin homology domain-containing family G member 5/7 | Ubiquitin-like domain superfamily |
|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A0G2L933
|
1072 | ||||||
|
UniProtKB:A0A8M1RMR0
|
1073 | ||||||
|
UniProtKB:A0A8M9PLC3
|
1024 | ||||||
|
UniProtKB:A0A8M9PFM6
|
1108 | ||||||
|
UniProtKB:A0A8M2B9C2
|
834 | ||||||
|
UniProtKB:A0A8M6YXV7
|
1071 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
plekhg5b-201
(1)
|
Ensembl | 3,728 nt |
Interactions and Pathways
No data available
Plasmids
No data available