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
  • plekhg5 (1)
  • si:ch211-15p9.7
  • syx-a (1)
  • syx (1)
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. Is expressed in axial vasculature; dorsal aorta; and intersegmental vessel. 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
Expression
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
All Phenotype Data
8 figures from 3 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With plekhg5a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Charcot-Marie-Tooth disease recessive intermediate C Alliance Charcot-Marie-Tooth disease, recessive intermediate C 615376
distal spinal muscular atrophy type 4 Alliance Spinal muscular atrophy, distal, autosomal recessive, 4 611067
Associated With plekhg5a Via Experimental Models
No data available
Gene Ontology
Protein Domains
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:A0A2R8QB15 1105
UniProtKB:F1R1Q2 1157
UniProtKB:A0A0R4IVN0 91
UniProtKB:A0A2R8RLU7 1057
UniProtKB:A0A0R4ISX1 1135
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations