PLEKHG5

  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
PLEKHG5 (HGNC:29105) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
pleckstrin homology and RhoGEF domain containing G5
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
KIAA0720, Syx, GEF720, Tech, ARHGEF45
%HI
53.41(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.57(Read more about gnomAD LOEUF score)
Cytoband
1p36.31
Genomic Coordinates
GRCh37/hg19: chr1:6526152-6580152 NCBI Ensembl UCSC
GRCh38/hg38: chr1:6467122-6520092 NCBI Ensembl UCSC
MANE Select Transcript
NM_020631.6 ENST00000377728.8 (Read more about MANE Select)
Function
Functions as a guanine exchange factor (GEF) for RAB26 and thus regulates autophagy of synaptic vesicles in axon terminal of motoneurons (By similarity). Involved in the control of neuronal cell differentiation (PubMed:11704860). Plays a role in angiogenesis through regulation of endothelial cells chemotaxis. Affects also the migration, adhesion, and matrix/bone degradation in macrophages and osteoclasts (PubMed:23777631). {ECO:0000250|UniProtKB:Q66T02, ECO:0000269|PubMed:11704860, ECO:0000269|P... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-36282
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • Charcot-Marie-Tooth disease recessive intermediate C Monarch
HI Evidence Comments:
Biallelic variants have been reported in individuals with Charcot-Marie-Tooth disease, recessive intermediate C and spinal muscular atrophy, distal, autosomal recessive, 4 per OMIM.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000001.10) (NC_000001.11)