PLEKHG5
Sign in to saveAlso known as CMTRIC, DSMA4, GEF720, Syx, Tech, pleckstrin homology and RhoGEF domain containing G5
Pleckstrin homology domain containing, family G member 5 (PLEKHG5) is a protein that in humans is encoded by the PLEKHG5 gene. Eight transcript variants encoding different isoforms have been found for this gene.
Gene data
PLEKHG5- Name
- pleckstrin homology and RhoGEF domain containing G5
- Type
- protein-coding
- Position
- 6,467,122–6,520,074 (−)
- Aliases
- ARHGEF45, CMTRIC, DSMA4, GEF720, HMNR4, Syx, Tech
- Ensembl
- ENSG00000171680
- RefSeq RNA
- NM_001042663.3, NM_001042664.2, NM_001042665.2, NM_001265592.2, NM_001265593.2
- RefSeq protein
- NP_001036128.2, NP_001036129.1, NP_001036130.1, NP_001252521.2, NP_001252522.1
This gene encodes a protein that activates the nuclear factor kappa B (NFKB1) signaling pathway. Mutations in this gene are associated with autosomal recessive distal spinal muscular atrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
pleckstrin homology and RhoGEF domain containing G5
- Symbol
- PLEKHG5
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 1:6,467,122-6,520,074
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
~1 min read
Encyclopedic overview
3 sectionsContents
- Function
- Clinical significance
- References
Pleckstrin homology domain containing, family G member 5 (PLEKHG5) is a protein that in humans is encoded by the PLEKHG5 gene. Eight transcript variants encoding different isoforms have been found for this gene.
== Function ==
Excerpted from Wikipedia’s “PLEKHG5” article, available under the CC BY-SA 4.0 licence.