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 enable guanyl-nucleotide exchange factor activity. Acts upstream of or within angiogenesis and blood vessel endothelial cell migration. Predicted to be located in cell projection and cytoplasm. Predicted to be active in axon; endocytic vesicle; and plasma membrane. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease recessive intermediate C and autosomal recessive distal hereditary motor neuronopathy 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 domain |
| Domain | IPR001849 | Pleckstrin homology domain |
| Domain | IPR055251 | SOS1/NGEF-like, PH 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 | Additional Resources | Length | Dbl homology (DH) domain superfamily | Dbl homology domain | PH-like domain superfamily | Pleckstrin homology domain | Pleckstrin homology domain-containing family G member 5/7 | SOS1/NGEF-like, PH domain | Ubiquitin-like domain superfamily |
|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A0G2L933 | InterPro | 1072 | |||||||
| UniProtKB:A0A8M1RMR0 | InterPro | 1073 | |||||||
| UniProtKB:A0A8M9PLC3 | InterPro | 1024 | |||||||
| UniProtKB:A0A8M9PFM6 | InterPro | 1108 | |||||||
| UniProtKB:A0A8M2B9C2 | InterPro | 834 | |||||||
| UniProtKB:A0A8M6YXV7 | InterPro | 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