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PLEKHG3 pleckstrin homology and RhoGEF domain containing G3 [ Homo sapiens (human) ]

Gene ID: 26030, updated on 27-Nov-2024

Summary

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Official Symbol
PLEKHG3provided by HGNC
Official Full Name
pleckstrin homology and RhoGEF domain containing G3provided by HGNC
Primary source
HGNC:HGNC:20364
See related
Ensembl:ENSG00000126822 MIM:617940; AllianceGenome:HGNC:20364
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ARHGEF43; KIAA0599
Summary
Enables actin binding activity. Involved in regulation of cell migration and regulation of establishment of cell polarity. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in endometrium (RPKM 8.9), kidney (RPKM 8.6) and 25 other tissues See more
Orthologs
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Genomic context

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See PLEKHG3 in Genome Data Viewer
Location:
14q23.3
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (64704424..64750249)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (58912267..58958084)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (65171142..65216967)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5839 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr14:65039864-65040400 Neighboring gene protein phosphatase 1 regulatory subunit 36 Neighboring gene nucleoporin 50 pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:65099836-65100338 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:65142104-65142604 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:65142605-65143105 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:65146682-65147226 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:65169421-65169922 Neighboring gene NANOG hESC enhancer GRCh37_chr14:65175156-65175657 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:65181995-65182914 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:65182915-65183832 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:65184752-65185669 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:65194651-65195302 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:65195956-65196607 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:65202813-65203735 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:65203736-65204657 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5840 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5841 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:65233085-65234003 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:65241545-65242046 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:65242047-65242546 Neighboring gene spectrin beta, erythrocytic Neighboring gene microRNA 7855 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:65298097-65298596 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:65322751-65323318 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5842 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5843 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5844 Neighboring gene uncharacterized LOC105370534

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. PLEKHG3 enhances polarized cell migration by activating actin filaments at the cell front. Nguyen TT, et al. Proc Natl Acad Sci U S A, 2016 Sep 6. PMID 27555588, Free PMC Article
  2. A de novo 1.5 Mb microdeletion on chromosome 14q23.2-23.3 in a patient with autism and spherocytosis. Griswold AJ, et al. Autism Res, 2011 Jun. PMID 21360829, Free PMC Article
  3. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. Nagase T, et al. DNA Res, 1998 Feb 28. PMID 9628581
  4. High Throughput Chemical Screening Reveals Multiple Regulatory Proteins on FOXA1 in Breast Cancer Cell Lines. Wang S, et al. Int J Mol Sci, 2018 Dec 19. PMID 30572598, Free PMC Article
  5. CDK7/GRP78 signaling axis contributes to tumor growth and metastasis in osteosarcoma. Zhang T, et al. Oncogene, 2022 Sep. PMID 36042349

See all (30) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. PLEKHG3 enhances polarized cell migration by activating actin filaments at the cell front.
    Title: PLEKHG3 enhances polarized cell migration by activating actin filaments at the cell front.
  2. This is the first implication of chr14q23.2-23.3 in the etiology of autism and points to MTHFD1, PLEKHG3, and CHURC1 as potential candidate genes contributing to autism risk.
    Title: A de novo 1.5 Mb microdeletion on chromosome 14q23.2-23.3 in a patient with autism and spherocytosis.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC156299, MGC156300

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables guanyl-nucleotide exchange factor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables guanyl-nucleotide exchange factor activity TAS
Traceable Author Statement
more info
  
enables small GTPase binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in regulation of cell migration IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of establishment of cell polarity IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of establishment of cell polarity IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
pleckstrin homology domain-containing family G member 3
Names
PH domain-containing family G member 3
pleckstrin homology domain containing, family G (with RhoGef domain) member 3
pleckstrin homology domain containing, family G, member 3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001308147.2 → NP_001295076.1  pleckstrin homology domain-containing family G member 3

    See identical proteins and their annotated locations for NP_001295076.1

    Status: VALIDATED

    Source sequence(s)
    AL121774, BC129952, BC129953, BU681724, BX248779, CN284264, HY057390
    Consensus CDS
    CCDS76690.1
    UniProtKB/Swiss-Prot
    A1L389, A1L390, B5MEC9, O60339, Q6GMS3, Q6P4B1, Q7L3S3, Q86SW7, Q8TEF5, Q96EW6, Q9BT82
    UniProtKB/TrEMBL
    A0A0U1RR71, A0A2X0SFH4
    Related
    ENSP00000247226.8, ENST00000247226.13
    Conserved Domains (2) summary
    cd13243
    Location:253 → 396
    PH_PLEKHG1_G2_G3; Pleckstrin homology domain-containing family G members 1, 2, and 3 pleckstrin homology (PH) domain
    pfam00621
    Location:97 → 270
    RhoGEF; RhoGEF domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    64704424..64750249
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    58912267..58958084
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_015549.1: Suppressed sequence

    Description
    NM_015549.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A1L390.1 GenPept UniProtKB/Swiss-Prot:A1L390

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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