Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PLEKHG4 Gene

Aliases for PLEKHG4 Gene

  • Pleckstrin Homology Domain Containing, Family G (With RhoGef Domain) Member 4 2 3
  • PH Domain-Containing Family G Member 4 3 4
  • PRTPHN1 3 4
  • Pleckstrin Homology Domain-Containing Family G Member 4 4
  • Purkinje Cell Atrophy Associated Protein 1 3
  • Purkinje Cell Atrophy-Associated Protein 1 4
  • Spinocerebellar Ataxia 4 2
  • Puratrophin-1 2
  • ARHGEF44 3
  • SCA4 3

External Ids for PLEKHG4 Gene

Previous HGNC Symbols for PLEKHG4 Gene

  • SCA4

Previous GeneCards Identifiers for PLEKHG4 Gene

  • GC16P065870
  • GC16P053184

Summaries for PLEKHG4 Gene

Entrez Gene Summary for PLEKHG4 Gene

  • The protein encoded by this gene can function as a guanine nucleotide exchange factor (GEF) and may play a role in intracellular signaling and cytoskeleton dynamics at the Golgi apparatus. Polymorphisms in the region of this gene have been found to be associated with spinocerebellar ataxia in some study populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

GeneCards Summary for PLEKHG4 Gene

PLEKHG4 (Pleckstrin Homology Domain Containing, Family G (With RhoGef Domain) Member 4) is a Protein Coding gene. Diseases associated with PLEKHG4 include spinocerebellar ataxia 4 and cerebellar disease. GO annotations related to this gene include Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is ARHGEF40.

UniProtKB/Swiss-Prot for PLEKHG4 Gene

  • Possible role in intracellular signaling and cytoskeleton dynamics at the Golgi

Gene Wiki entry for PLEKHG4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PLEKHG4 Gene

Genomics for PLEKHG4 Gene

Regulatory Elements for PLEKHG4 Gene

Transcription factor binding sites by QIAGEN in the PLEKHG4 gene promoter:

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PLEKHG4 Gene

67,277,510 bp from pter
67,289,500 bp from pter
11,991 bases
Plus strand

Genomic View for PLEKHG4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PLEKHG4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLEKHG4 Gene

Proteins for PLEKHG4 Gene

  • Protein details for PLEKHG4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • Q4G0J8
    • Q4H485
    • Q56A69
    • Q9H7K4
    • Q9UFW0

    Protein attributes for PLEKHG4 Gene

    1191 amino acids
    Molecular mass:
    130803 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAH82974.1; Type=Frameshift; Positions=3; Evidence={ECO:0000305}; Sequence=BAB15765.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for PLEKHG4 Gene


neXtProt entry for PLEKHG4 Gene

Proteomics data for PLEKHG4 Gene at MOPED

Post-translational modifications for PLEKHG4 Gene

  • Ubiquitination at Lys 405, Lys 423, Lys 511, Lys 608, Lys 674, Lys 869, Lys 922, and Lys 1049
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for PLEKHG4 Gene

Domains & Families for PLEKHG4 Gene

Protein Domains for PLEKHG4 Gene

Suggested Antigen Peptide Sequences for PLEKHG4 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 DH (DBL-homology) domain.
  • Contains 1 DH (DBL-homology) domain.
  • Contains 1 PH domain.
genes like me logo Genes that share domains with PLEKHG4: view

Function for PLEKHG4 Gene

Molecular function for PLEKHG4 Gene

UniProtKB/Swiss-Prot Function:
Possible role in intracellular signaling and cytoskeleton dynamics at the Golgi

Gene Ontology (GO) - Molecular Function for PLEKHG4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005089 Rho guanyl-nucleotide exchange factor activity IEA --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with PLEKHG4: view
genes like me logo Genes that share phenotypes with PLEKHG4: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for PLEKHG4 Gene

Localization for PLEKHG4 Gene

Subcellular locations from

Jensen Localization Image for PLEKHG4 Gene COMPARTMENTS Subcellular localization image for PLEKHG4 gene
Compartment Confidence
cytosol 2
nucleus 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for PLEKHG4 Gene

Pathways & Interactions for PLEKHG4 Gene

SuperPathways for PLEKHG4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PLEKHG4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0035023 regulation of Rho protein signal transduction IEA --
GO:0090630 activation of GTPase activity IEA --
genes like me logo Genes that share ontologies with PLEKHG4: view

No data available for Pathways by source and SIGNOR curated interactions for PLEKHG4 Gene

Drugs & Compounds for PLEKHG4 Gene

No Compound Related Data Available

Transcripts for PLEKHG4 Gene

Unigene Clusters for PLEKHG4 Gene

Pleckstrin homology domain containing, family G (with RhoGef domain) member 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PLEKHG4 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^
SP1: - - - -
SP5: - -
SP6: - - - - - - - - - - - - - - - - - - -
SP8: -
SP9: - - - - -

ExUns: 22 ^ 23 ^ 24a · 24b ^ 25a · 25b ^ 26a · 26b ^ 27a · 27b · 27c
SP1: -
SP2: -
SP3: -
SP4: -
SP5: -
SP6: - - - - - -

Relevant External Links for PLEKHG4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PLEKHG4 Gene

mRNA expression in normal human tissues for PLEKHG4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PLEKHG4 Gene

This gene is overexpressed in Testis (x8.7).

Protein differential expression in normal tissues from HIPED for PLEKHG4 Gene

This gene is overexpressed in Plasma (37.2), Ovary (16.4), and Testis (14.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PLEKHG4 Gene

SOURCE GeneReport for Unigene cluster for PLEKHG4 Gene Hs.188781

mRNA Expression by UniProt/SwissProt for PLEKHG4 Gene

Tissue specificity: Expressed in kidney, Leydig cells in the testis, epithelial cells in the prostate gland and Langerhans islet in the pancreas. Isoform 1 and isoform 3 are strongly expressed in Purkinje cells and to a lower extent in other neurons (at protein level). Widely expressed at low levels. More strongly expressed in testis and pancreas.
genes like me logo Genes that share expression patterns with PLEKHG4: view

Protein tissue co-expression partners for PLEKHG4 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for PLEKHG4 Gene

This gene was present in the common ancestor of animals.

Orthologs for PLEKHG4 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia PLEKHG4 35
  • 84.99 (n)
  • 80.92 (a)
  • 80 (a)
(Canis familiaris)
Mammalia PLEKHG4 35
  • 85.59 (n)
  • 82.69 (a)
  • 82 (a)
(Mus musculus)
Mammalia Plekhg4 35
  • 80.55 (n)
  • 76.06 (a)
Plekhg4 16
Plekhg4 36
  • 76 (a)
(Pan troglodytes)
Mammalia PLEKHG4 35
  • 98.15 (n)
  • 97.22 (a)
  • 99 (a)
(Rattus norvegicus)
Mammalia Plekhg4 35
  • 80.39 (n)
  • 76.32 (a)
(Monodelphis domestica)
Mammalia PLEKHG4 36
  • 50 (a)
(Ornithorhynchus anatinus)
Mammalia PLEKHG4 36
  • 35 (a)
(Gallus gallus)
Aves PLEKHG4 35
  • 58.95 (n)
  • 51.38 (a)
  • 24 (a)
(Anolis carolinensis)
Reptilia PLEKHG4 36
  • 32 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia plekhg4 35
  • 53.09 (n)
  • 47.69 (a)
(Danio rerio)
Actinopterygii plekhg4 35
  • 60 (n)
  • 55.34 (a)
plekhg4 36
  • 18 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG30456 36
  • 18 (a)
CG33275 36
  • 18 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8422 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 53 (a)
Species with no ortholog for PLEKHG4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PLEKHG4 Gene

Gene Tree for PLEKHG4 (if available)
Gene Tree for PLEKHG4 (if available)

Paralogs for PLEKHG4 Gene

Paralogs for PLEKHG4 Gene

genes like me logo Genes that share paralogs with PLEKHG4: view

Variants for PLEKHG4 Gene

Sequence variations from dbSNP and Humsavar for PLEKHG4 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs785029 -- 67,287,017(-) TCAGT(A/G)AGACC reference, synonymous-codon, nc-transcript-variant
rs2305870 -- 67,288,456(-) AGCAC(A/G)GGAAG intron-variant
rs3868142 Likely benign, - 67,286,320(-) CGGAG(C/T)GAGGC missense, reference, nc-transcript-variant
rs7200919 -- 67,282,697(+) CCCCA(A/G)TCCAT intron-variant
rs8044843 Likely benign, - 67,284,339(+) ACTGG(A/G/T)CCCCC reference, missense, nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for PLEKHG4 Gene

Variant ID Type Subtype PubMed ID
dgv2885n71 CNV Loss 21882294
dgv2886n71 CNV Loss 21882294
dgv2888n71 CNV Loss 21882294
nsv524363 CNV Loss 19592680
nsv827707 CNV Loss 20364138
nsv906803 CNV Loss 21882294
nsv522852 CNV Gain 19592680
nsv524492 CNV Loss 19592680
nsv471092 CNV Gain 18288195
nsv457513 CNV Loss 19166990
nsv827708 CNV Gain 20364138

Variation tolerance for PLEKHG4 Gene

Residual Variation Intolerance Score: 80.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 16.61; 97.82% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PLEKHG4 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLEKHG4 Gene

Disorders for PLEKHG4 Gene

MalaCards: The human disease database

(2) MalaCards diseases for PLEKHG4 Gene - From: OMIM, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spinocerebellar ataxia 4
  • sca4
cerebellar disease
  • cerebellar deficiency syndrome
- elite association

Relevant External Links for PLEKHG4

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with PLEKHG4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PLEKHG4 Gene

Publications for PLEKHG4 Gene

  1. Mutations of the puratrophin-1 (PLEKHG4) gene on chromosome 16q22.1 are not a common genetic cause of cerebellar ataxia in a European population. (PMID: 16491300) Wieczorek S. … Epplen J.T. (J. Hum. Genet. 2006) 2 23 67
  2. An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5' untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor domains. (PMID: 16001362) Ishikawa K. … Mizusawa H. (Am. J. Hum. Genet. 2005) 2 23 67
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 67
  5. Role of the guanine nucleotide exchange factor in Akt2-mediated plasma membrane translocation of GLUT4 in insulin-stimulated skeletal muscle. (PMID: 25025572) Takenaka N. … Satoh T. (Cell. Signal. 2014) 67

Products for PLEKHG4 Gene

Sources for PLEKHG4 Gene

Back to Top