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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. Gene Ontology (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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for PLEKHG4 Gene

Promoters and enhancers for PLEKHG4 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16I067276 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +0.8 834 3.9 HDGF ARNT ARID4B SIN3A DMAP1 ZNF143 FOS DEK MXD4 REST PLEKHG4 EDC4 ACD LRRC36 CENPT CTCF THAP11 E2F4 TSNAXIP1 RANBP10
GH16I066547 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 21.5 -726.5 -726459 6.6 MLX ZFP64 DMAP1 YY1 SLC30A9 E2F8 ZNF416 ZNF143 SP3 NFYC TK2 CKLF CKLF-CMTM1 ENSG00000261519 ENSG00000275745 PIR54425 PIR51465 NAE1 ZDHHC1 BEAN1
GH16I068077 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.7 +808.2 808171 16 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 ZNF143 SP3 NFYC NFATC3 GC16M068083 PRMT7 CTCF EDC4 TRADD ZDHHC1 DPEP2 DUS2 E2F4
GH16I067479 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11 +204.5 204542 5 HDGF PKNOX1 SMAD1 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ATP6V0D1 AGRP LOC101927837 ZDHHC1 ENKD1 NAE1 EDC4 CENPT CTCF SLC7A6OS
GH16I067310 Enhancer 1.5 FANTOM5 Ensembl ENCODE 17.4 +34.6 34632 2.9 HDGF PKNOX1 ATF1 ZNF2 IRF4 BRCA1 ATF7 FOS RUNX3 SP3 NAE1 ZDHHC1 PLEKHG4 ENSG00000260465 ACD KIAA0895L PRMT7 CENPT EDC4 RRAD
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PLEKHG4 on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for PLEKHG4 Gene

Genomic Locations for PLEKHG4 Gene
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 isoforms=2405, Lys423, Lys511, Lys608, Lys674, isoforms=2869, isoforms=2922, and isoforms=21049

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.

Phenotypes From GWAS Catalog for PLEKHG4 Gene

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

Clone 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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (2)
See all subcellular structures

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:

CRISPR Products

Inhibitory RNA Products

Clone 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 33 34
  • 98.15 (n)
(Canis familiaris)
Mammalia PLEKHG4 33 34
  • 85.59 (n)
(Bos Taurus)
Mammalia PLEKHG4 33 34
  • 84.99 (n)
(Mus musculus)
Mammalia Plekhg4 33 16 34
  • 80.55 (n)
(Rattus norvegicus)
Mammalia Plekhg4 33
  • 80.39 (n)
(Monodelphis domestica)
Mammalia PLEKHG4 34
  • 50 (a)
(Ornithorhynchus anatinus)
Mammalia PLEKHG4 34
  • 35 (a)
(Gallus gallus)
Aves PLEKHG4 33 34
  • 58.95 (n)
(Anolis carolinensis)
Reptilia PLEKHG4 34
  • 32 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia plekhg4 33
  • 53.09 (n)
(Danio rerio)
Actinopterygii plekhg4 33 34
  • 60 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG30456 34
  • 18 (a)
CG33275 34
  • 18 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 53 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8422 33
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 Variation AA Info Type
rs886041026 uncertain-significance, Spinocerebellar ataxia 31 67,280,029(+) C/G/T 5_prime_UTR_variant, non_coding_transcript_variant
rs11860295 likely-benign, not specified 67,282,331(+) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs3868142 likely-benign, not specified 67,286,320(+) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs8044843 likely-benign, not specified 67,284,339(+) A/G/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1000129864 -- 67,289,884(+) C/T downstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
nsv827708 CNV gain 20364138
nsv827707 CNV loss 20364138
nsv572906 CNV loss 21841781
nsv572905 CNV loss 21841781
nsv524492 CNV loss 19592680
nsv524363 CNV loss 19592680
nsv522852 CNV gain 19592680
nsv471092 CNV gain 18288195
nsv457513 CNV loss 19166990
nsv1144771 CNV deletion 24896259

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)

Additional Variant Information 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: HGMD, OMIM, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spinocerebellar ataxia 4
  • sca4
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

Additional Disease Information for PLEKHG4

Genetic Association Database
Human Genome Epidemiology 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 JT (Journal of human genetics 2006) 2 3 22 44 58
  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 (American journal of human genetics 2005) 2 3 4 22 58
  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 = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2008) 3 44 58
  4. Redefining the disease locus of 16q22.1-linked autosomal dominant cerebellar ataxia. (PMID: 17611710) Amino T … Mizusawa H (Journal of human genetics 2007) 3 4 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for PLEKHG4 Gene

Sources for PLEKHG4 Gene

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