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)