Gene
plekhg5a
- ID
- ZDB-GENE-060503-766
- Name
- pleckstrin homology domain containing, family G (with RhoGef domain) member 5a
- Symbol
- plekhg5a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 11 Mapping Details/Browsers
- Description
- Predicted to have guanyl-nucleotide exchange factor activity. Involved in angiogenesis; blood vessel endothelial cell migration; and gastrulation. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease recessive intermediate C and distal spinal muscular atrophy type 4. Is expressed in axial vasculature; dorsal aorta; and intersegmental vessel. Orthologous to human PLEKHG5 (pleckstrin homology and RhoGEF domain containing G5).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
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:A0A8M9PVI0
|
1146 | ||||||
UniProtKB:A0A8M9PAS1
|
406 | ||||||
UniProtKB:A0A8M9PM84
|
395 | ||||||
UniProtKB:A0A0R4ISX1
|
1135 | ||||||
UniProtKB:A0A8M1QHY5
|
860 | ||||||
UniProtKB:F1R1Q2
|
1157 | ||||||
UniProtKB:A0A8M9PTC9
|
384 | ||||||
UniProtKB:A0A2R8RLU7
|
1057 | ||||||
UniProtKB:A0A8M9Q3T8
|
306 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
plekhg5a-201
(1)
|
Ensembl | 5,637 nt | ||
mRNA |
plekhg5a-203
(1)
|
Ensembl | 434 nt | ||
mRNA |
plekhg5a-204
(1)
|
Ensembl | 4,936 nt | ||
mRNA |
plekhg5a-205
(1)
|
Ensembl | 5,767 nt | ||
mRNA |
plekhg5a-206
(1)
|
Ensembl | 6,028 nt | ||
mRNA |
plekhg5a-207
(1)
|
Ensembl | 5,602 nt | ||
mRNA |
plekhg5a-208
(1)
|
Ensembl | 5,337 nt | ||
ncRNA |
plekhg5a-003
(1)
|
Ensembl | 407 nt |
Interactions and Pathways
No data available
Plasmids
No data available