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. ... See more...

Aliases for PLEKHG4 Gene

Aliases for PLEKHG4 Gene

  • Pleckstrin Homology And RhoGEF Domain Containing G4 2 3 5
  • Puratrophin-1 2 3 4
  • Pleckstrin Homology Domain Containing, Family G (With RhoGef Domain) Member 4 2 3
  • PH Domain-Containing Family G Member 4 3 4
  • ARHGEF44 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
  • DKFZP434I216 2
  • PLEKHG4 5
  • 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 Israeli 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 Summary 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 , Rfam classification and piRNA Summary for PLEKHG4 Gene

Genomics for PLEKHG4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PLEKHG4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PLEKHG4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PLEKHG4

Top Transcription factor binding sites by QIAGEN in the PLEKHG4 gene promoter:
  • E2F
  • E2F-3a
  • E2F-4

Genomic Locations for PLEKHG4 Gene

Genomic Locations for PLEKHG4 Gene
chr16:67,277,510-67,289,500
(GRCh38/hg38)
Size:
11,991 bases
Orientation:
Plus strand
chr16:67,311,413-67,323,403
(GRCh37/hg19)
Size:
11,991 bases
Orientation:
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:
    Q58EX7-PKHG4_HUMAN
    Recommended name:
    Puratrophin-1
    Protein Accession:
    Q58EX7
    Secondary Accessions:
    • Q4G0J8
    • Q4H485
    • Q56A69
    • Q9H7K4
    • Q9UFW0

    Protein attributes for PLEKHG4 Gene

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

    Alternative splice isoforms for PLEKHG4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PLEKHG4 Gene

Post-translational modifications for PLEKHG4 Gene

  • Ubiquitination at Lys405, Lys423, Lys511, Lys608, Lys674, Lys869, Lys922, and Lys1049
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PLEKHG4 Gene

Domains & Families for PLEKHG4 Gene

Gene Families for PLEKHG4 Gene

Protein Domains for PLEKHG4 Gene

InterPro:
Blocks:
  • DH domain
ProtoNet:

Suggested Antigen Peptide Sequences for PLEKHG4 Gene

GenScript: Design optimal peptide antigens:
  • Pleckstrin homology domain protein (C5IFI8_HUMAN)
  • Purkinje cell atrophy-associated protein 1 (PKHG4_HUMAN)
genes like me logo Genes that share domains with PLEKHG4: view

No data available for Graphical View of Domain Structure and 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:0005085 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

Human Phenotype Ontology for PLEKHG4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLEKHG4

Clone Products

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

COMPARTMENTS
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
cytosol 4
nucleus 3
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

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

PathCards logo

SuperPathways for PLEKHG4 Gene

No Data Available

SIGNOR curated interactions for PLEKHG4 Gene

Activates:

Gene Ontology (GO) - Biological Process for PLEKHG4 Gene

GO ID Qualified GO term Evidence PubMed IDs
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 for PLEKHG4 Gene

Drugs & Compounds for PLEKHG4 Gene

No Compound Related Data Available

Transcripts for PLEKHG4 Gene

mRNA/cDNA for PLEKHG4 Gene

5 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLEKHG4

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: - - - -
SP2:
SP3:
SP4:
SP5: - -
SP6: - - - - - - - - - - - - - - - - - - -
SP7:
SP8: -
SP9: - - - - -

ExUns: 22 ^ 23 ^ 24a · 24b ^ 25a · 25b ^ 26a · 26b ^ 27a · 27b · 27c
SP1: -
SP2: -
SP3: -
SP4: -
SP5: -
SP6: - - - - - -
SP7:
SP8:
SP9:

Relevant External Links for PLEKHG4 Gene

GeneLoc Exon Structure for
PLEKHG4

Expression for PLEKHG4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for PLEKHG4 Gene



Protein tissue co-expression partners for PLEKHG4 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PLEKHG4

SOURCE GeneReport for Unigene cluster for PLEKHG4 Gene:

Hs.188781

mRNA Expression by UniProt/SwissProt for PLEKHG4 Gene:

Q58EX7-PKHG4_HUMAN
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(4.4)
  • Skin(4.4)
  • Spleen(4.3)
  • Eye(4.1)

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

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

Orthologs for PLEKHG4 Gene

This gene was present in the common ancestor of animals.

Orthologs for PLEKHG4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PLEKHG4 30 31
  • 98.15 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PLEKHG4 30 31
  • 85.59 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PLEKHG4 30 31
  • 84.99 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Plekhg4 30 17 31
  • 80.55 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Plekhg4 30
  • 80.39 (n)
Oppossum
(Monodelphis domestica)
Mammalia PLEKHG4 31
  • 50 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PLEKHG4 31
  • 35 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PLEKHG4 30 31
  • 58.95 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PLEKHG4 31
  • 32 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia plekhg4 30
  • 53.09 (n)
Zebrafish
(Danio rerio)
Actinopterygii plekhg4 30 31
  • 60 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG33275 31
  • 18 (a)
ManyToMany
CG30456 31
  • 18 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 53 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.8422 30
Species where no ortholog for PLEKHG4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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

ENSEMBL:
Gene Tree for PLEKHG4 (if available)
TreeFam:
Gene Tree for PLEKHG4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PLEKHG4: view image

Paralogs for PLEKHG4 Gene

(2) SIMAP similar genes for PLEKHG4 Gene using alignment to 10 proteins:

  • PKHG4_HUMAN
  • C5IFI8_HUMAN
  • H3BME5_HUMAN
  • H3BPA8_HUMAN
  • H3BPQ5_HUMAN
  • H3BQ60_HUMAN
  • H3BQE6_HUMAN
  • H3BQP9_HUMAN
  • H3BSU4_HUMAN
  • J3QSC9_HUMAN
genes like me logo Genes that share paralogs with PLEKHG4: view

Variants for PLEKHG4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PLEKHG4 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
770254 Benign: not provided 67,285,354(+) A/G MISSENSE_VARIANT
808058 Uncertain Significance: not provided 67,281,107(+) C/T SYNONYMOUS_VARIANT
rs11860295 Likely Benign: not specified. - 67,282,331(+) C/Tp.Thr412Ile MISSENSE_VARIANT
rs3868142 Likely Benign: not specified. - 67,286,320(+) G/Ap.Arg830His MISSENSE_VARIANT
rs8044843 Likely Benign: not specified. - 67,284,339(+) A/Gp.Asp525Gly MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for PLEKHG4 Gene

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)

Additional Variant Information for PLEKHG4 Gene

Human Gene Mutation Database (HGMD)
PLEKHG4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLEKHG4

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

Disorders for PLEKHG4 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
spinocerebellar ataxia 4
  • sca4
israeli tick typhus
  • israeli spotted fever
epidemic typhus
  • sylvatic typhus
autosomal dominant cerebellar ataxia type iii
  • adca3
siberian tick typhus
  • manchurian typhus
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PLEKHG4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 23 41
  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 23
  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 41
  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
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for PLEKHG4 Gene

Sources for PLEKHG4 Gene