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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
    mouse all
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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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