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

Gene ID: 80301, updated on 23-Nov-2023

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 act upstream of or within macrophage apoptotic process. Predicted to be located in extracellular region and ficolin-1-rich granule lumen. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in spleen (RPKM 55.3), bone marrow (RPKM 20.9) and 23 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (64841915..64868002)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (62651199..62677284)
105.20220307 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. 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
  4. Lysine acetylation targets protein complexes and co-regulates major cellular functions. Choudhary C, et al. Science, 2009 Aug 14. PMID 19608861
  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 (20) 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)

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

  • FLJ38884, DKFZp761K2312

Gene Ontology Provided by GOA

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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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_2023_10

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

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