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. 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
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
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
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: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
Transcripts
Genome Browsers
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
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations