Homo sapiens Gene: PLEKHG4
Summary
InnateDB Gene IDBG-36574.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PLEKHG4
Gene Name pleckstrin homology domain containing, family G (with RhoGef domain) member 4
Synonyms ARHGEF44; PRTPHN1; SCA4;
Species Homo sapiens
Ensembl Gene ENSG00000196155
Encoded Proteins
pleckstrin homology domain containing, family G (with RhoGef domain) member 4
pleckstrin homology domain containing, family G (with RhoGef domain) member 4
pleckstrin homology domain containing, family G (with RhoGef domain) member 4
pleckstrin homology domain containing, family G (with RhoGef domain) member 4
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene contains multiple domains suggestive of a role in intracellular signaling and cytoskeleton dynamics at the Golgi apparatus. Mutations in this gene are associated with spinocerebellar ataxia 16q22-linked. Several alternatively spliced transcript variants, differing only in the 5' UTR, or encoding a different isoform, have been found for this gene. [provided by RefSeq, Jul 2008]
The protein encoded by this gene contains multiple domains suggestive of a role in intracellular signaling and cytoskeleton dynamics at the Golgi apparatus. Mutations in this gene are associated with spinocerebellar ataxia 16q22-linked. Several alternatively spliced transcript variants, differing only in the 5\' UTR, or encoding a different isoform, have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 16:67277510-67289499
Strand Forward strand
Band q22.1
Transcripts
ENST00000360461 ENSP00000353646
ENST00000379344 ENSP00000368649
ENST00000393966 ENSP00000462601
ENST00000427155 ENSP00000401118
ENST00000450733 ENSP00000398030
ENST00000563969 ENSP00000457086
ENST00000565899 ENSP00000455423
ENST00000568621 ENSP00000456873
ENST00000562744 ENSP00000455622
ENST00000567938 ENSP00000455740
ENST00000562289
ENST00000562144 ENSP00000454348
ENST00000569875 ENSP00000464631
ENST00000567136 ENSP00000455228
ENST00000565773 ENSP00000455876
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005089 Rho guanyl-nucleotide exchange factor activity
Biological Process
GO:0032321 positive regulation of Rho GTPase activity
GO:0035023 regulation of Rho protein signal transduction
Cellular Component
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.188781 Hs.614444
RefSeq NM_001129727 NM_001129728 NM_001129729 NM_001129731 NM_015432
HUGO
OMIM
CCDS CCDS32466 CCDS45512
HPRD 10890
IMGT
EMBL
GenPept
RNA Seq Atlas