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Protein Coding Gene : Plekhg5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5

Primary Identifier  MGI:2652860 Organism  mouse, laboratory
Chromosome  4 NCBI Gene Number  269608
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Enables guanyl-nucleotide exchange factor activity. Involved in endothelial cell chemotaxis and regulation protein catabolic process at presynapse. Acts upstream of or within endothelial cell migration. Located in several cellular components, including cell-cell junction; endocytic vesicle; and lamellipodium. Is expressed in brain; cardiovascular system; liver; and testis. 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).
PHENOTYPE: Mice homozygous for a knock-out allele display angiogenic defects that affect multiple organs, including sparser coronary and kidney arterial systems that appear to deficient in small diameter vessels while the major coronary and kidney arteries remain intact. [provided by MGI curators]
  • synonyms:
  • mKIAA0720,
  • pleckstrin homology domain containing, family G (with RhoGef domain) member 5,
  • Syx2,
  • cDNA sequence BC023181,
  • BC023181,
  • Syx1,
  • Plekhg5

Features --> Cross References

Genome

Sequence Feature Displayer

JG Browse Displayer

0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

3 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

14 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

Other

0 Driver For