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
  • 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 Symbols for PLEKHG4 Gene

  • SCA4

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 ataxia. GO annotations related to this gene include phospholipid binding and 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

Genomic Location for PLEKHG4 Gene

Start:
67,277,510 bp from pter
End:
67,289,500 bp from pter
Size:
11,991 bases
Orientation:
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

Regulatory Elements for PLEKHG4 Gene

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

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; Positions=3; 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

Proteomics data for PLEKHG4 Gene at MOPED

Post-translational modifications for PLEKHG4 Gene

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

No data available for DME Specific Peptides for PLEKHG4 Gene

Domains for PLEKHG4 Gene

Gene Families for PLEKHG4 Gene

HGNC:
  • PLEKH :Pleckstrin homology (PH) domain containing
  • ARHGEF :Rho guanine nucleotide exchange factors

Protein Domains for PLEKHG4 Gene

Suggested Antigen Peptide Sequences for PLEKHG4 Gene

Graphical View of Domain Structure for InterPro Entry

Q58EX7

UniProtKB/Swiss-Prot:

PKHG4_HUMAN
Domain:
  • Contains 1 DH (DBL-homology) domain.:
    • Q58EX7
  • Contains 1 PH domain.:
    • Q58EX7
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

Phenotypes for PLEKHG4 Gene

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

miRNA for PLEKHG4 Gene

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

Localization for PLEKHG4 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PLEKHG4 Gene COMPARTMENTS Subcellular localization image for PLEKHG4 gene
Compartment Confidence
cytosol 3
nucleus 3

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

Pathways 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 --
GO:0043547 positive regulation 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

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: - - - -
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
ECgene alternative splicing isoforms for
PLEKHG4

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 (8.7).

Integrated Proteomics: protein expression 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

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.
genes like me logo Genes that share expressions 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 35
  • 98.15 (n)
  • 97.22 (a)
PLEKHG4 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PLEKHG4 35
  • 84.99 (n)
  • 80.92 (a)
PLEKHG4 36
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PLEKHG4 35
  • 85.59 (n)
  • 82.69 (a)
PLEKHG4 36
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Plekhg4 35
  • 80.55 (n)
  • 76.06 (a)
Plekhg4 16
Plekhg4 36
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PLEKHG4 36
  • 50 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PLEKHG4 36
  • 35 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Plekhg4 35
  • 80.39 (n)
  • 76.32 (a)
chicken
(Gallus gallus)
Aves PLEKHG4 35
  • 58.95 (n)
  • 51.38 (a)
PLEKHG4 36
  • 24 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PLEKHG4 36
  • 32 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia plekhg4 35
  • 53.09 (n)
  • 47.69 (a)
zebrafish
(Danio rerio)
Actinopterygii plekhg4 35
  • 60 (n)
  • 55.34 (a)
plekhg4 36
  • 18 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG30456 36
  • 18 (a)
ManyToMany
CG33275 36
  • 18 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8422 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 53 (a)
OneToMany
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

ENSEMBL:
Gene Tree for PLEKHG4 (if available)
TreeFam:
Gene Tree for PLEKHG4 (if available)

Paralogs for PLEKHG4 Gene

Paralogs for PLEKHG4 Gene

Selected SIMAP similar genes for PLEKHG4 Gene using alignment to 10 proteins:

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)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

Relevant External Links for PLEKHG4 Gene

HapMap Linkage Disequilibrium report
PLEKHG4
Human Gene Mutation Database (HGMD)
PLEKHG4

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

Disorders for PLEKHG4 Gene

Relevant External Links for PLEKHG4

Genetic Association Database (GAD)
PLEKHG4
Human Genome Epidemiology (HuGE) Navigator
PLEKHG4
genes like me logo Genes that share disorders with PLEKHG4: view

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

Publications for PLEKHG4 Gene

  1. 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 23
  2. 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 23 48
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. [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 48
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for PLEKHG4 Gene

Sources for PLEKHG4 Gene

Back to Top

Content