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    PLEKHG4B pleckstrin homology and RhoGEF domain containing G4B [ Homo sapiens (human) ]

    Gene ID: 153478, updated on 28-Oct-2024

    Summary

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    Official Symbol
    PLEKHG4Bprovided by HGNC
    Official Full Name
    pleckstrin homology and RhoGEF domain containing G4Bprovided by HGNC
    Primary source
    HGNC:HGNC:29399
    See related
    Ensembl:ENSG00000153404 MIM:620665; AllianceGenome:HGNC:29399
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ARHGEF48
    Summary
    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]
    Expression
    Biased expression in thyroid (RPKM 1.2), testis (RPKM 0.6) and 8 other tissues See more
    Orthologs
    all
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    Genomic context

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    See PLEKHG4B in Genome Data Viewer
    Location:
    5p15.33
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (92168..189966)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (82485..181320)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (92283..190081)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374602 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:51413-52326 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:72025-72555 Neighboring gene Spi-C transcription factor pseudogene 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:77366-78265 Neighboring gene Sharpr-MPRA regulatory region 259 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:90483-91322 Neighboring gene NANOG hESC enhancer GRCh37_chr5:99879-100414 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:137535-138040 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:159786-160286 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:160287-160787 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:169157-170356 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:170845-171358 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:171359-171872 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:181876-182376 Neighboring gene Sharpr-MPRA regulatory region 15179 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22268 Neighboring gene Sharpr-MPRA regulatory region 11960 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22269 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22270 Neighboring gene uncharacterized LOC124900929 Neighboring gene leucine rich repeat containing 14B Neighboring gene ReSE screen-validated silencer GRCh37_chr5:207882-208207 Neighboring gene coiled-coil domain containing 127 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:218445-219253

    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 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. Calcium influx promotes PLEKHG4B localization to cell-cell junctions and regulates the integrity of junctional actin filaments. Ninomiya K, et al. Mol Biol Cell, 2024 Feb 1. PMID 38088892, Free PMC Article
    2. Heritability and genetic association analysis of neuroimaging measures in the Diabetes Heart Study. Raffield LM, et al. Neurobiol Aging, 2015 Mar. PMID 25523635, Free PMC Article
    3. [Analysis of copy number variations in an infant with Cri du Chat syndrome by array-based comparative genomic hybridization]. Luo FW, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2013 Aug. PMID 23926013
    4. PLEKHG4B enables actin cytoskeletal remodeling during epithelial cell-cell junction formation. Ninomiya K, et al. J Cell Sci, 2021 Jan 27. PMID 33310911
    5. Discovery of 342 putative new genes from the analysis of 5'-end-sequenced full-length-enriched cDNA human transcripts. Dalla E, et al. Genomics, 2005 Jun. PMID 15885500

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ43173, KIAA1909

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables guanyl-nucleotide exchange factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables guanyl-nucleotide exchange factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables guanyl-nucleotide exchange factor activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in axon guidance IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell-cell adhesion 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 basal plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cell-cell junction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    is_active_in extrinsic component of membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    pleckstrin homology domain-containing family G member 4B
    Names
    PH domain-containing family G member 4B
    pleckstrin homology domain containing, family G (with RhoGef domain) member 4B

    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.

    Genomic

    1. NG_054915.1 RefSeqGene

      Range
      43154..140952
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_052909.5 → NP_443141.4  pleckstrin homology domain-containing family G member 4B

      Status: REVIEWED

      Source sequence(s)
      AB067496, AC010443, AC021087, AK125163, BG325888, DR033854
      Consensus CDS
      CCDS34124.2
      UniProtKB/Swiss-Prot
      A0A1B0GW72, Q96PX9
      Related
      ENSP00000490806.1, ENST00000637938.2
      Conserved Domains (3) summary
      cd13242
      Location:1332 → 1467
      PH_puratrophin-1; Puratrophin-1 pleckstrin homology (PH) domain
      pfam00621
      Location:1165 → 1308
      RhoGEF; RhoGEF domain
      cl28033
      Location:186 → 468
      Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      92168..189966
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      82485..181320
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96PX9.5 GenPept UniProtKB/Swiss-Prot:Q96PX9

    Gene LinkOut

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

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