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
  • plekhg5l (1)
  • syx-b (1)
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
Expression
All Expression Data
No data available
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
3 figures from Ernkvist et al., 2009
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With plekhg5b 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 plekhg5b 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:A0A0G2L933 1072
UniProtKB:A0A8M1RMR0 1073
UniProtKB:A0A8M9PLC3 1024
UniProtKB:A0A8M9PFM6 1108
UniProtKB:A0A8M2B9C2 834
UniProtKB:A0A8M6YXV7 1071
Transcripts
Genome Browsers
No data available
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