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Aliases for PLEKHG4 Gene

Aliases for PLEKHG4 Gene

  • Pleckstrin Homology And RhoGEF Domain Containing G4 2 3 5
  • Pleckstrin Homology Domain Containing, Family G (With RhoGef Domain) Member 4 2 3
  • PH Domain-Containing Family G Member 4 3 4
  • Puratrophin-1 2 3
  • 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
  • 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 And RhoGEF Domain Containing G4) is a Protein Coding gene. Diseases associated with PLEKHG4 include Spinocerebellar Ataxia 4 and Indian Tick Typhus. GO annotations related to this gene include Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is PLEKHG4B.

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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PLEKHG4 Gene

Genomics for PLEKHG4 Gene

Regulatory Elements for PLEKHG4 Gene

Enhancers for PLEKHG4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16G066515 2.1 FANTOM5 Ensembl ENCODE dbSUPER 10.7 -756.3 -756287 12.4 CREB3L1 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF416 ZNF548 ZNF263 TK2 CKLF E2F4 KIAA0895L BEAN1 ZDHHC1 CKLF-CMTM1 ENSG00000260465 CMTM2 PLEKHG4
GH16G068077 2 FANTOM5 Ensembl ENCODE dbSUPER 10.7 +808.2 808172 16.0 CREB3L1 MLX AGO1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 PRMT7 DPEP2 DUS2 E2F4 SLC7A6OS ENSG00000212445 PLEKHG4 SLC7A6 NFATC3 DPEP3
GH16G066871 1.6 FANTOM5 ENCODE 12.7 -403.7 -403670 5.1 CREB3L1 MLX FEZF1 DMAP1 SLC30A9 ZNF143 ZNF263 SP3 NFYC TBX21 E2F4 CES2 CA7 PLEKHG4 ZDHHC1 KIAA0895L CENPT ENSG00000260465 FAM96B FBXL8
GH16G066899 1.7 Ensembl ENCODE dbSUPER 10.7 -376.8 -376783 3.4 CREB3L1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC MEF2D SSRP1 ZNF610 CES2 E2F4 RRAD FAM96B LINC00920 FBXL8 TRADD HSF4 PLEKHG4 EXOC3L1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PLEKHG4 on UCSC Golden Path with GeneCards custom track

Promoters for PLEKHG4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000087094 1790 1001 HDGF ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF143 DEK ZNF263 MXD4

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

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

Genes around PLEKHG4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLEKHG4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for PLEKHG4 Gene

  • Ubiquitination at Lys405, posLast=423423, Lys511, Lys608, posLast=674674, Lys869, posLast=922922, and Lys1049
  • Modification sites at PhosphoSitePlus

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

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

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

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

Localization for PLEKHG4 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PLEKHG4 gene
Compartment Confidence
nucleus 4
cytosol 4

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

Interacting Proteins for PLEKHG4 Gene

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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for PLEKHG4 Gene

Protein tissue co-expression partners for PLEKHG4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PLEKHG4 Gene:


SOURCE GeneReport for Unigene cluster for PLEKHG4 Gene:


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.

Evidence on tissue expression from TISSUES for PLEKHG4 Gene

  • Nervous system(4.3)
  • Skin(4.2)
  • Spleen(4.2)
  • Eye(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PLEKHG4 Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • nervous
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • head
  • foot
  • lower limb
  • upper limb
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with PLEKHG4: view

Primer 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
(Pan troglodytes)
Mammalia PLEKHG4 34 35
  • 98.15 (n)
(Canis familiaris)
Mammalia PLEKHG4 34 35
  • 85.59 (n)
(Bos Taurus)
Mammalia PLEKHG4 34 35
  • 84.99 (n)
(Mus musculus)
Mammalia Plekhg4 34 16 35
  • 80.55 (n)
(Rattus norvegicus)
Mammalia Plekhg4 34
  • 80.39 (n)
(Monodelphis domestica)
Mammalia PLEKHG4 35
  • 50 (a)
(Ornithorhynchus anatinus)
Mammalia PLEKHG4 35
  • 35 (a)
(Gallus gallus)
Aves PLEKHG4 34 35
  • 58.95 (n)
(Anolis carolinensis)
Reptilia PLEKHG4 35
  • 32 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia plekhg4 34
  • 53.09 (n)
(Danio rerio)
Actinopterygii plekhg4 34 35
  • 60 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG30456 35
  • 18 (a)
CG33275 35
  • 18 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 53 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8422 34
Species where no ortholog for PLEKHG4 was found in the sources mined by GeneCards:
  • 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
rs11860295 Likely benign 67,282,331(+) GGTGA(C/T)CCTGA nc-transcript-variant, reference, missense
rs3868142 Likely benign 67,286,320(-) CGGAG(C/T)GAGGC nc-transcript-variant, reference, missense
rs8044843 Likely benign 67,284,339(+) ACTGG(A/G/T)CCCCC nc-transcript-variant, reference, missense
rs886041026 Uncertain significance 67,280,029(+) GCCCA(C/T)CTTTA nc-transcript-variant, utr-variant-5-prime
rs1000129864 -- 67,289,884(+) AAGAC(C/T)GGAGG intron-variant, downstream-variant-500B

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

Variant ID Type Subtype PubMed ID
nsv1144771 CNV deletion 24896259
nsv457513 CNV loss 19166990
nsv471092 CNV gain 18288195
nsv522852 CNV gain 19592680
nsv524363 CNV loss 19592680
nsv524492 CNV loss 19592680
nsv572905 CNV loss 21841781
nsv572906 CNV loss 21841781
nsv827707 CNV loss 20364138
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

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for PLEKHG4 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
spinocerebellar ataxia 4
  • spinocerebellar ataxia type 4
indian tick typhus
queensland tick typhus
  • australian tick typhus
israeli tick typhus
  • israeli spotted fever
flinders island spotted fever
  • fisf
- elite association - COSMIC cancer census association via MalaCards

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 3 22 46 64
  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 3 4 22 64
  3. [Study on the single-nucleotide substitution (c.-16C to T) of the PURATROPHIN-1 gene in Chinese patients with spinocerebellar ataxia]. (PMID: 19065522) Zhou Y. … Tang B. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2008) 3 46 64
  4. Redefining the disease locus of 16q22.1-linked autosomal dominant cerebellar ataxia. (PMID: 17611710) Amino T. … Mizusawa H. (J. Hum. Genet. 2007) 3 4 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for PLEKHG4 Gene

Sources for PLEKHG4 Gene

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