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    PLEKHO2 pleckstrin homology domain containing O2 [ Homo sapiens (human) ]

    Gene ID: 80301, updated on 27-Nov-2024

    Summary

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    Official Symbol
    PLEKHO2provided by HGNC
    Official Full Name
    pleckstrin homology domain containing O2provided by HGNC
    Primary source
    HGNC:HGNC:30026
    See related
    Ensembl:ENSG00000241839 AllianceGenome:HGNC:30026
    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
    PP1628; pp9099; PLEKHQ1
    Summary
    Predicted to be involved in macrophage apoptotic process. Predicted to be located in extracellular region and ficolin-1-rich granule lumen. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in spleen (RPKM 55.3), bone marrow (RPKM 20.9) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PLEKHO2 in Genome Data Viewer
    Location:
    15q22.31
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (64841915..64868002)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (62651199..62677284)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (65134114..65160201)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:65111682-65112182 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:65114079-65114580 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:65116122-65116789 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9578 Neighboring gene PIF1 5'-to-3' DNA helicase Neighboring gene uncharacterized LOC124903508 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9579 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6540 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:65134214-65134737 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:65134770-65135321 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9580 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9581 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:65138202-65138761 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:65138762-65139320 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:65143675-65144621 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:65146039-65146607 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9582 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:65159077-65159756 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9583 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9584 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9585 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9586 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9587 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6543 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6544 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:65186997-65187595 Neighboring gene Sharpr-MPRA regulatory region 6079 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6545 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6546 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:65204313-65204856 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:65207564-65208064 Neighboring gene ankyrin repeat and death domain containing 1A Neighboring gene Sharpr-MPRA regulatory region 9291 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:65223351-65224228 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:65239186-65239686 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:65239687-65240187 Neighboring gene SPG21 abhydrolase domain containing, maspardin Neighboring gene H3K27ac hESC enhancers GRCh37_chr15:65281459-65281960 and GRCh37_chr15:65281961-65282460

    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. PLEKHO2 is essential for M-CSF-dependent macrophage survival. Zhang P, et al. Cell Signal, 2017 Sep. PMID 28627369
    2. The miR-106b/NR2F2-AS1/PLEKHO2 Axis Regulates Migration and Invasion of Colorectal Cancer through the MAPK Pathway. Liu S, et al. Int J Mol Sci, 2021 May 30. PMID 34070923, Free PMC Article
    3. Lysine acetylation targets protein complexes and co-regulates major cellular functions. Choudhary C, et al. Science, 2009 Aug 14. PMID 19608861
    4. Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. Lettre G, et al. PLoS Genet, 2011 Feb 10. PMID 21347282, Free PMC Article
    5. Cytoplasmic Metadherin (MTDH) provides survival advantage under conditions of stress by acting as RNA-binding protein. Meng X, et al. J Biol Chem, 2012 Feb 10. PMID 22199357, Free PMC Article

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The miR-106b/NR2F2-AS1/PLEKHO2 Axis Regulates Migration and Invasion of Colorectal Cancer through the MAPK Pathway.
      Title: The miR-106b/NR2F2-AS1/PLEKHO2 Axis Regulates Migration and Invasion of Colorectal Cancer through the MAPK Pathway.
    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

    EBI GWAS Catalog

    Description
    Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
    EBI GWAS Catalog

    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

    • FLJ38884, DKFZp761K2312

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in macrophage apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    located_in ficolin-1-rich granule lumen TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    pleckstrin homology domain-containing family O member 2
    Names
    PH domain-containing family O member 2
    PH domain-containing family Q member 1
    PH domain-containing protein
    pleckstrin homology domain-containing family Q member 1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001195059.2 → NP_001181988.1  pleckstrin homology domain-containing family O member 2 isoform 2

      See identical proteins and their annotated locations for NP_001181988.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) omits an in-frame coding exon, compared to variant 1, resulting in a shorter protein (isoform 2).
      Source sequence(s)
      AC069368, AK311036, BC008744
      Consensus CDS
      CCDS73739.1
      UniProtKB/Swiss-Prot
      Q8TD55
      Related
      ENSP00000483505.1, ENST00000616065.4
      Conserved Domains (2) summary
      cl17171
      Location:2 → 64
      PH-like; Pleckstrin homology-like domain
      cl26464
      Location:128 → 359
      Atrophin-1; Atrophin-1 family

    2. NM_025201.5 → NP_079477.2  pleckstrin homology domain-containing family O member 2 isoform 1

      See identical proteins and their annotated locations for NP_079477.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) is the longer transcript and encodes the longer protein isoform (1).
      Source sequence(s)
      AC069368, AK311036, BC008744
      Consensus CDS
      CCDS10196.1
      UniProtKB/Swiss-Prot
      Q7L4H4, Q8TD55, Q8WYS8
      Related
      ENSP00000326706.4, ENST00000323544.5
      Conserved Domains (2) summary
      PHA03247
      Location:178 → 409
      PHA03247; large tegument protein UL36; Provisional
      cd13317
      Location:15 → 114
      PH_PLEKHO1_PLEKHO2; Pleckstrin homology domain-containing family O Pleckstrin homology 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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      64841915..64868002
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      62651199..62677284
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TD55.1 GenPept UniProtKB/Swiss-Prot:Q8TD55

    Gene LinkOut

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

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