This gene encodes a large protein that contains a pleckstrin homology domain and may function as a guanine nucleotide exchange factor. [provided by RefSeq, May 2017] See more...

Aliases for PLEKHG4B Gene

Aliases for PLEKHG4B Gene

  • Pleckstrin Homology And RhoGEF Domain Containing G4B 2 3 5
  • Pleckstrin Homology Domain Containing, Family G (With RhoGef Domain) Member 4B 2 3
  • Pleckstrin Homology Domain-Containing Family G Member 4B 3 4
  • PH Domain-Containing Family G Member 4B 3 4
  • KIAA1909 2 4
  • PLEKHG4B 5

External Ids for PLEKHG4B Gene

Previous GeneCards Identifiers for PLEKHG4B Gene

  • GC05P000194
  • GC05P000140
  • GC05P000054

Summaries for PLEKHG4B Gene

Entrez Gene Summary for PLEKHG4B Gene

  • This gene encodes a large protein that contains a pleckstrin homology domain and may function as a guanine nucleotide exchange factor. [provided by RefSeq, May 2017]

GeneCards Summary for PLEKHG4B Gene

PLEKHG4B (Pleckstrin Homology And RhoGEF Domain Containing G4B) is a Protein Coding gene. Diseases associated with PLEKHG4B include Cri-Du-Chat Syndrome. Gene Ontology (GO) annotations related to this gene include Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is ARHGEF40.

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PLEKHG4B Gene

Genomics for PLEKHG4B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PLEKHG4B 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
GH05J000091 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 255.3 +0.5 476 2.6 ZNF600 POLR2A NFIC ZIC2 ZBTB10 ZFP64 KLF9 SP2 YY1 PRDM6 PLEKHG4B HSALNG0039416 CCDC127 SDHA PDCD6 ENSG00000261434 LRRC14B
GH05J000090 Enhancer 0.5 ENCODE 250.7 -1.1 -1069 0.2 ZIC2 REST GLI4 KLF1 ZNF692 GLIS2 GATAD2B WT1 HSALNG0039416 PLEKHG4B piR-48553-236
GH05J000187 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.4 +98.7 98733 6.3 ZNF654 MYC ZNF600 ZIC2 ZBTB10 YY1 CEBPB CTCF REST DEK LRRC14B lnc-CCDC127-3 EXOC3 BRD9 ENSG00000250848 ENSG00000248925 SLC9A3-AS1 SDHA PLEKHG4B CCDC127
GH05J000052 Promoter/Enhancer 1.3 FANTOM5 ENCODE CraniofacialAtlas 7.2 -38.2 -38223 1.2 ZNF600 POLR2A ZIC2 ZBTB10 ZNF341 ZBTB7B KLF9 SP2 CTCF ZNF2 piR-35674-404 lnc-PLEKHG4B-1 PLEKHG4B EXOC3-AS1
GH05J000166 Enhancer 0.9 Ensembl ENCODE dbSUPER 7.7 +76.5 76512 4 NFIC ZBTB10 MAFK EGR1 L3MBTL2 EGR2 MAX MNT FOS NR2F2 CCDC127 SDHA PLEKHG4B ENSG00000248925 HSALNG0039420 piR-41014 LRRC14B RF00017-4029
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PLEKHG4B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PLEKHG4B

Top Transcription factor binding sites by QIAGEN in the PLEKHG4B gene promoter:
  • Pax-6

Genomic Locations for PLEKHG4B Gene

Latest Assembly
97,863 bases
Plus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
97,799 bases
Plus strand

(GRCh37/hg19 by Ensembl)
49,713 bases
Plus strand

Genomic View for PLEKHG4B Gene

Genes around PLEKHG4B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLEKHG4B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLEKHG4B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLEKHG4B Gene

Proteins for PLEKHG4B Gene

  • Protein details for PLEKHG4B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Pleckstrin homology domain-containing family G member 4B
    Protein Accession:

    Protein attributes for PLEKHG4B Gene

    1271 amino acids
    Molecular mass:
    139667 Da
    Quaternary structure:
    No Data Available

neXtProt entry for PLEKHG4B Gene

Post-translational modifications for PLEKHG4B Gene

  • Ubiquitination at Lys942
  • Modification sites at PhosphoSitePlus

Other Protein References for PLEKHG4B Gene

No data available for DME Specific Peptides for PLEKHG4B Gene

Domains & Families for PLEKHG4B Gene

Gene Families for PLEKHG4B Gene

Protein Domains for PLEKHG4B Gene

  • DH domain

Suggested Antigen Peptide Sequences for PLEKHG4B Gene

GenScript: Design optimal peptide antigens:
  • Pleckstrin homology domain-containing family G member 4B (PKH4B_HUMAN)
  • PLEKHG4B protein (Q96HN1_HUMAN)
genes like me logo Genes that share domains with PLEKHG4B: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PLEKHG4B Gene

Function for PLEKHG4B Gene

Phenotypes From GWAS Catalog for PLEKHG4B Gene

Gene Ontology (GO) - Molecular Function for PLEKHG4B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity IEA --
GO:0005515 protein binding IPI 27107012
genes like me logo Genes that share ontologies with PLEKHG4B: view
genes like me logo Genes that share phenotypes with PLEKHG4B: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLEKHG4B

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PLEKHG4B Gene

Localization for PLEKHG4B 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 PLEKHG4B gene
Compartment Confidence
nucleus 4
cytosol 3
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for PLEKHG4B Gene

Pathways & Interactions for PLEKHG4B Gene

PathCards logo

SuperPathways for PLEKHG4B Gene

No Data Available

SIGNOR curated interactions for PLEKHG4B Gene


Gene Ontology (GO) - Biological Process for PLEKHG4B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0050790 regulation of catalytic activity IEA --
genes like me logo Genes that share ontologies with PLEKHG4B: view

No data available for Pathways by source for PLEKHG4B Gene

Drugs & Compounds for PLEKHG4B Gene

No Compound Related Data Available

Transcripts for PLEKHG4B Gene


8 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLEKHG4B

Alternative Splicing Database (ASD) splice patterns (SP) for PLEKHG4B Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b · 12c ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18
SP1: -
SP3: -
SP4: -

Relevant External Links for PLEKHG4B Gene

GeneLoc Exon Structure for

Expression for PLEKHG4B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PLEKHG4B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PLEKHG4B Gene

This gene is overexpressed in Pituitary (x7.7) and Thyroid (x7.4).

Protein differential expression in normal tissues from HIPED for PLEKHG4B Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PLEKHG4B Gene

Protein tissue co-expression partners for PLEKHG4B Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PLEKHG4B

SOURCE GeneReport for Unigene cluster for PLEKHG4B Gene:


Evidence on tissue expression from TISSUES for PLEKHG4B Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with PLEKHG4B: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PLEKHG4B Gene

Orthologs for PLEKHG4B Gene

This gene was present in the common ancestor of animals.

Orthologs for PLEKHG4B Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PLEKHG4B 29 30
  • 99.06 (n)
(Canis familiaris)
Mammalia PLEKHG4B 29 30
  • 75.66 (n)
(Monodelphis domestica)
Mammalia PLEKHG4B 30
  • 39 (a)
(Ornithorhynchus anatinus)
Mammalia PLEKHG4B 30
  • 37 (a)
(Anolis carolinensis)
Reptilia PLEKHG4B 30
  • 51 (a)
(Danio rerio)
Actinopterygii PLEKHG4B (2 of 2) 30
  • 59 (a)
PLEKHG4B (1 of 2) 30
  • 18 (a)
Fruit Fly
(Drosophila melanogaster)
Insecta CG30456 30
  • 19 (a)
CG33275 30
  • 17 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 55 (a)
Species where no ortholog for PLEKHG4B 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)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Cow (Bos Taurus)
  • 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)
  • 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)
  • Worm (Caenorhabditis elegans)

Evolution for PLEKHG4B Gene

Gene Tree for PLEKHG4B (if available)
Gene Tree for PLEKHG4B (if available)
Evolutionary constrained regions (ECRs) for PLEKHG4B: view image
Alliance of Genome Resources:
Additional Orthologs for PLEKHG4B

Paralogs for PLEKHG4B Gene

(2) SIMAP similar genes for PLEKHG4B Gene using alignment to 2 proteins:

  • Q96HN1_HUMAN
genes like me logo Genes that share paralogs with PLEKHG4B: view

Variants for PLEKHG4B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PLEKHG4B Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
983099 Uncertain Significance: Neurodevelopmental disorder 173,038(+) G/A
NM_052909.5(PLEKHG4B):c.4192G>A (p.Asp1398Asn)
rs116033653 Benign: not provided 181,629(+) T/C
NM_052909.5(PLEKHG4B):c.4518T>C (p.Cys1506=)
rs116480186 Benign: Abnormality of neuronal migration 171,224(+) G/A
NM_052909.5(PLEKHG4B):c.3830G>A (p.Arg1277Gln)
rs142208662 Benign: not provided 143,375(+) C/T
rs148716910 Benign: not provided 151,606(+) G/A

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PLEKHG4B Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for PLEKHG4B Gene

Variant ID Type Subtype PubMed ID
dgv140e180 CNV deletion 20482838
dgv3008n106 CNV deletion 24896259
dgv5515n100 CNV gain 25217958
dgv5517n100 CNV loss 25217958
dgv9471n54 CNV loss 21841781
dgv9475n54 CNV gain 21841781
esv1181815 CNV deletion 17803354
esv1220599 CNV insertion 17803354
esv1561581 CNV deletion 17803354
esv1691643 CNV insertion 17803354
esv21566 CNV loss 19812545
esv2548346 CNV deletion 19546169
esv2752083 CNV gain 17911159
esv2759315 CNV loss 17122850
esv2763907 CNV gain+loss 21179565
esv3303740 CNV mobile element insertion 20981092
esv3307964 CNV mobile element insertion 20981092
esv3397427 CNV insertion 20981092
esv3418267 CNV duplication 20981092
esv3569893 CNV loss 25503493
esv3569895 CNV loss 25503493
esv3569899 CNV loss 25503493
esv3575802 CNV gain 25503493
esv3603720 CNV loss 21293372
esv3603721 CNV gain 21293372
esv3603731 CNV gain 21293372
esv3603733 CNV loss 21293372
esv3894107 CNV gain 25118596
nsv1018481 CNV gain 25217958
nsv1028658 CNV gain 25217958
nsv1028927 CNV loss 25217958
nsv1030767 CNV gain 25217958
nsv1032615 CNV gain 25217958
nsv1073408 CNV deletion 25765185
nsv1074789 CNV deletion 25765185
nsv1137518 CNV deletion 24896259
nsv1139359 CNV deletion 24896259
nsv1148702 CNV deletion 26484159
nsv1152640 CNV deletion 26484159
nsv327306 CNV deletion 16902084
nsv329414 CNV deletion 16902084
nsv428458 CNV loss 18775914
nsv461886 CNV loss 19166990
nsv470983 CNV loss 18288195
nsv509954 OTHER sequence alteration 20534489
nsv512844 CNV insertion 21212237
nsv515806 CNV loss 19592680
nsv518607 CNV gain 19592680
nsv523382 CNV loss 19592680
nsv596608 CNV gain+loss 21841781
nsv596609 CNV loss 21841781
nsv596610 CNV loss 21841781
nsv596611 CNV loss 21841781
nsv821536 CNV deletion 20802225
nsv822925 CNV gain 20364138

Variation tolerance for PLEKHG4B Gene

Residual Variation Intolerance Score: 98.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 18.33; 98.53% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PLEKHG4B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
Leiden Open Variation Database (LOVD)

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLEKHG4B Gene

Disorders for PLEKHG4B Gene

MalaCards: The human disease database

(1) MalaCards diseases for PLEKHG4B Gene - From: COP and GCD

Disorder Aliases PubMed IDs
cri-du-chat syndrome
  • cat cry syndrome
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PLEKHG4B

Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PLEKHG4B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PLEKHG4B Gene

Publications for PLEKHG4B Gene

  1. Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins. (PMID: 11572484) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2001) 2 3 4
  2. Systems analysis of RhoGEF and RhoGAP regulatory proteins reveals spatially organized RAC1 signalling from integrin adhesions. (PMID: 32203420) Müller PM … Rocks O (Nature cell biology 2020) 3
  3. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. (PMID: 28611215) Fei T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2017) 3
  4. Pooled-matrix protein interaction screens using Barcode Fusion Genetics. (PMID: 27107012) Yachie N … Roth FP (Molecular systems biology 2016) 3
  5. Heritability and genetic association analysis of neuroimaging measures in the Diabetes Heart Study. (PMID: 25523635) Raffield LM … Bowden DW (Neurobiology of aging 2015) 3

Products for PLEKHG4B Gene

Sources for PLEKHG4B Gene