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

Gene ID: 80301, updated on 13-Mar-2020

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
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
Expression
Broad expression in spleen (RPKM 55.3), bone marrow (RPKM 20.9) and 23 other tissues See more
Orthologs
mouse all

Genomic context

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See PLEKHO2 in Genome Data Viewer
Location:
15q22.31
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (64841883..64868002)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (65134082..65160201)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene RNA binding protein, mRNA processing factor 2 Neighboring gene microRNA 1272 Neighboring gene PIF1 5'-to-3' DNA helicase Neighboring gene ankyrin repeat and death domain containing 1A Neighboring gene uncharacterized LOC107984754 Neighboring gene SPG21 abhydrolase domain containing, maspardin

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. Lysine acetylation targets protein complexes and co-regulates major cellular functions. Choudhary C, et al. Science, 2009 Aug 14. PMID 19608861
  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. 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
  5. E-cadherin interactome complexity and robustness resolved by quantitative proteomics. Guo Z, et al. Sci Signal, 2014 Dec 2. PMID 25468996, Free PMC Article

See all (10) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

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

NHGRI GWAS Catalog

Description
Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
NHGRI GWA 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
neutrophil degranulation TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
extracellular region TAS
Traceable Author Statement
more info
  
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_001195059.1 → 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
    Q8TD55
    Related
    ENSP00000326706.4, ENST00000323544.5
    Conserved Domains (2) summary
    cd13317
    Location:15 → 114
    PH_PLEKHO1_PLEKHO2; Pleckstrin homology domain-containing family O Pleckstrin homology domain
    pfam00169
    Location:19 → 118
    PH; PH domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    64841883..64868002
    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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