Aliases for PLEKHG7 Gene

Aliases for PLEKHG7 Gene

  • Pleckstrin Homology And RhoGEF Domain Containing G7 2 3 5
  • Pleckstrin Homology Domain Containing, Family G (With RhoGef Domain) Member 7 2 3
  • Pleckstrin Homology Domain-Containing Family G Member 7 3 4
  • PH Domain-Containing Family G Member 7 3 4
  • Chromosome 12 Open Reading Frame 74 2
  • Uncharacterized Protein C12orf74 3
  • C12orf74 3
  • FLJ46688 2
  • PLEKHG7 5

External Ids for PLEKHG7 Gene

Previous HGNC Symbols for PLEKHG7 Gene

  • C12orf74

Previous GeneCards Identifiers for PLEKHG7 Gene

  • GC12P091654
  • GC12P093130
  • GC12P090197
  • GC12P092721

Summaries for PLEKHG7 Gene

GeneCards Summary for PLEKHG7 Gene

PLEKHG7 (Pleckstrin Homology And RhoGEF Domain Containing G7) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is PLEKHG5.

Additional gene information for PLEKHG7 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PLEKHG7 Gene

Genomics for PLEKHG7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PLEKHG7 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J092702 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 607.2 +0.1 103 1.9 FOXA1 STAT3 IKZF2 POLR2A RCOR1 SP1 YY1 RELA SIN3A PAX8 PLEKHG7 piR-39300-042 EEA1
GH12J092432 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 11.5 -262.7 -262742 19 ZNF512 POLR2A BACH1 JUND LARP7 STAT3 ZNF143 RELA PKNOX1 REST CLLU1-AS1 LINC02397 PLEKHG7 BTG1 ENSG00000257252 EEA1 ENSG00000266923 CLLU1
GH12J092744 Enhancer 0.8 Ensembl ENCODE 17.6 +43.4 43369 2.8 ZNF692 ZNF600 SCRT2 SP1 JUND JUN FOS ELK4 SCRT1 FOSL1 PLEKHG7 EEA1 UBE2N MN309583 piR-43106-047
GH12J092753 Enhancer 0.6 Ensembl ENCODE 18.5 +51.4 51358 3.6 NR2F2 RXRA JUN MAX MN309583 PLEKHG7 EEA1 piR-43106-047
GH12J092459 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 4.7 -235.5 -235543 14.6 SP1 RFX1 IKZF1 KDM1A POLR2A BACH1 JUND STAT3 ZNF143 RELA LINC02397 CLLU1-AS1 PLEKHG7 CLLU1 BTG1 LOC105369904 ENSG00000266923
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PLEKHG7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PLEKHG7

Top Transcription factor binding sites by QIAGEN in the PLEKHG7 gene promoter:
  • c-Myb
  • MRF-2
  • POU3F2
  • PPAR-gamma1
  • PPAR-gamma2
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for PLEKHG7 Gene

Genomic Locations for PLEKHG7 Gene
chr12:92,702,843-92,772,455
(GRCh38/hg38)
Size:
69,613 bases
Orientation:
Plus strand
chr12:93,115,281-93,166,231
(GRCh37/hg19)
Size:
50,951 bases
Orientation:
Plus strand

Genomic View for PLEKHG7 Gene

Genes around PLEKHG7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLEKHG7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLEKHG7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLEKHG7 Gene

Proteins for PLEKHG7 Gene

  • Protein details for PLEKHG7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZR37-PKHG7_HUMAN
    Recommended name:
    Pleckstrin homology domain-containing family G member 7
    Protein Accession:
    Q6ZR37
    Secondary Accessions:
    • B2RNR7

    Protein attributes for PLEKHG7 Gene

    Size:
    379 amino acids
    Molecular mass:
    44301 Da
    Quaternary structure:
    No Data Available

neXtProt entry for PLEKHG7 Gene

Post-translational modifications for PLEKHG7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PLEKHG7 Gene

Domains & Families for PLEKHG7 Gene

Gene Families for PLEKHG7 Gene

Protein Domains for PLEKHG7 Gene

InterPro:
Blocks:
  • Pleckstrin-like
  • DH domain
ProtoNet:

Suggested Antigen Peptide Sequences for PLEKHG7 Gene

GenScript: Design optimal peptide antigens:
  • Pleckstrin homology domain-containing family G member 7 (PKHG7_HUMAN)
genes like me logo Genes that share domains with PLEKHG7: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PLEKHG7 Gene

Function for PLEKHG7 Gene

Phenotypes From GWAS Catalog for PLEKHG7 Gene

Gene Ontology (GO) - Molecular Function for PLEKHG7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity IEA --
genes like me logo Genes that share ontologies with PLEKHG7: view
genes like me logo Genes that share phenotypes with PLEKHG7: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLEKHG7

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PLEKHG7 Gene

Localization for PLEKHG7 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 PLEKHG7 gene
Compartment Confidence
nucleus 1
endosome 1
cytosol 1
mitochondrion 0
peroxisome 0

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for PLEKHG7 Gene

Pathways & Interactions for PLEKHG7 Gene

PathCards logo

SuperPathways for PLEKHG7 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PLEKHG7 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for PLEKHG7 Gene

Drugs & Compounds for PLEKHG7 Gene

No Compound Related Data Available

Transcripts for PLEKHG7 Gene

mRNA/cDNA for PLEKHG7 Gene

4 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
6 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 PLEKHG7

Alternative Splicing Database (ASD) splice patterns (SP) for PLEKHG7 Gene

No ASD Table

Relevant External Links for PLEKHG7 Gene

GeneLoc Exon Structure for
PLEKHG7

Expression for PLEKHG7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PLEKHG7 Gene

mRNA differential expression in normal tissues according to GTEx for PLEKHG7 Gene

This gene is overexpressed in Cervix - Endocervix (x7.3), Nerve - Tibial (x6.3), and Fallopian Tube (x6.0).

Protein differential expression in normal tissues from HIPED for PLEKHG7 Gene

This gene is overexpressed in Urine (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PLEKHG7 Gene



Protein tissue co-expression partners for PLEKHG7 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PLEKHG7

SOURCE GeneReport for Unigene cluster for PLEKHG7 Gene:

Hs.591013

Evidence on tissue expression from TISSUES for PLEKHG7 Gene

  • Lung(4.1)
genes like me logo Genes that share expression patterns with PLEKHG7: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PLEKHG7 Gene

Orthologs for PLEKHG7 Gene

This gene was present in the common ancestor of animals.

Orthologs for PLEKHG7 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PLEKHG7 31
  • 98 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia PLEKHG7 31
  • 81 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PLEKHG7 31
  • 68 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PLEKHG7 31
  • 42 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PLEKHG7 31
  • 70 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PLEKHG7 31
  • 63 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii plekhg7 31
  • 24 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea Y95B8A.12 31
  • 18 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 36 (a)
OneToOne
Species where no ortholog for PLEKHG7 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)
  • Dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • 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)
  • Mouse (Mus musculus)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for PLEKHG7 Gene

ENSEMBL:
Gene Tree for PLEKHG7 (if available)
TreeFam:
Gene Tree for PLEKHG7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PLEKHG7: view image

Paralogs for PLEKHG7 Gene

Paralogs for PLEKHG7 Gene

genes like me logo Genes that share paralogs with PLEKHG7: view

Variants for PLEKHG7 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PLEKHG7 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
719749 Benign: not provided 92,706,717(+) A/G MISSENSE_VARIANT
784252 Benign: not provided 92,706,817(+) G/A SYNONYMOUS_VARIANT
rs17790310 - p.Asp99Gly
rs924326 - p.Met212Thr

Additional dbSNP identifiers (rs#s) for PLEKHG7 Gene

Structural Variations from Database of Genomic Variants (DGV) for PLEKHG7 Gene

Variant ID Type Subtype PubMed ID
dgv2787n54 CNV gain 21841781
dgv498e212 CNV gain 25503493
esv2746207 CNV deletion 23290073
esv2761762 CNV loss 21179565
esv2761762 CNV loss 21179565
nsv455691 CNV gain 19166990
nsv559764 CNV loss 21841781
nsv7234 OTHER inversion 18451855
nsv7234 OTHER inversion 18451855

Variation tolerance for PLEKHG7 Gene

Residual Variation Intolerance Score: 69.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.79; 58.26% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PLEKHG7 Gene

Human Gene Mutation Database (HGMD)
PLEKHG7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLEKHG7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLEKHG7 Gene

Disorders for PLEKHG7 Gene

Additional Disease Information for PLEKHG7

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform

No disorders were found for PLEKHG7 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PLEKHG7 Gene

Publications for PLEKHG7 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  2. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  4. Genome-wide association study of chronic periodontitis in a general German population. (PMID: 24024966) Teumer A … Kocher T (Journal of clinical periodontology 2013) 3
  5. GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease. (PMID: 21658281) Aouizerat BE … Tseng ZH (BMC cardiovascular disorders 2011) 3

Products for PLEKHG7 Gene

Sources for PLEKHG7 Gene