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    PELI2 pellino E3 ubiquitin protein ligase family member 2 [ Homo sapiens (human) ]

    Gene ID: 57161, updated on 26-Nov-2024

    Summary

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    Official Symbol
    PELI2provided by HGNC
    Official Full Name
    pellino E3 ubiquitin protein ligase family member 2provided by HGNC
    Primary source
    HGNC:HGNC:8828
    See related
    Ensembl:ENSG00000139946 MIM:614798; AllianceGenome:HGNC:8828
    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
    Summary
    Predicted to enable protein-macromolecule adaptor activity and ubiquitin protein ligase activity. Acts upstream of or within positive regulation of MAPK cascade and positive regulation of protein phosphorylation. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See PELI2 in Genome Data Viewer
    Location:
    14q22.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (56118411..56301524)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (50324186..50507449)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (56585129..56768242)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370512 Neighboring gene uncharacterized LOC105370513 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8436 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5787 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5788 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5789 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8437 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:56694278-56695477 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:56717288-56717788 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:56763567-56764066 Neighboring gene long intergenic non-protein coding RNA 2284 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:56880383-56881582 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:56913685-56914290 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:56914291-56914896 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:56919397-56919898 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:56919899-56920398 Neighboring gene uncharacterized LOC101927690 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_34259 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_34268 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_34274 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:56991474-56992081 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_34296

    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. K(+) regulates relocation of Pellino-2 to the site of NLRP3 inflammasome activation in macrophages. Cristea I, et al. FEBS Lett, 2021 Oct. PMID 34387857
    2. PELI2 regulates early B-cell progenitor differentiation and related leukemia via the IL-7R expression. Xu Y, et al. Haematologica, 2024 Jun 1. PMID 38058209, Free PMC Article
    3. PELI2 is a negative regulator of STING signaling that is dynamically repressed during viral infection. Ritchie C, et al. Mol Cell, 2024 Jul 11. PMID 38917796,
    4. Pellino 2 is critical for Toll-like receptor/interleukin-1 receptor (TLR/IL-1R)-mediated post-transcriptional control. Kim TW, et al. J Biol Chem, 2012 Jul 20. PMID 22669975, Free PMC Article
    5. Cutting edge: mouse pellino-2 modulates IL-1 and lipopolysaccharide signaling. Yu KY, et al. J Immunol, 2002 Oct 15. PMID 12370331

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PELI2 is a negative regulator of STING signaling that is dynamically repressed during viral infection.
      Title: PELI2 is a negative regulator of STING signaling that is dynamically repressed during viral infection.
    2. PELI2 regulates early B-cell progenitor differentiation and related leukemia via the IL-7R expression.
      Title: PELI2 regulates early B-cell progenitor differentiation and related leukemia via the IL-7R expression.
    3. A Pellino-2 variant is associated with constitutive NLRP3 inflammasome activation in a family with ocular pterygium-digital keloid dysplasia.
      Title: A Pellino-2 variant is associated with constitutive NLRP3 inflammasome activation in a family with ocular pterygium-digital keloid dysplasia.
    4. Pellino-2 in nonimmune cells: novel interaction partners and intracellular localization.
      Title: Pellino-2 in nonimmune cells: novel interaction partners and intracellular localization.
    5. K(+) regulates relocation of Pellino-2 to the site of NLRP3 inflammasome activation in macrophages.
      Title: K(+) regulates relocation of Pellino-2 to the site of NLRP3 inflammasome activation in macrophages.
    6. A high-affinity Pellino2 e3 ubiquitin ligase binding domain is specific for phosphothreonine motifs.
      Title: The pellino e3 ubiquitin ligases recognize specific phosphothreonine motifs and have distinct substrate specificities.
    7. Pellino 2 plays a critical role for TLR/IL-1R-mediated post-transcriptional control.
      Title: Pellino 2 is critical for Toll-like receptor/interleukin-1 receptor (TLR/IL-1R)-mediated post-transcriptional control.
    8. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    9. interacts with TRAF6 (tumor necrosis factor receptor associated factor 6) and TAK1 (transforming growth factor-beta activated kinase 1); can activate the mitogen activated protein kinase pathway
      Title: Pellino2 activates the mitogen activated protein kinase pathway.
    10. Pellino2 interacts with kinase-active as well as kinase-inactive IRAK1 and IRAK4
      Title: Characterization of Pellino2, a substrate of IRAK1 and IRAK4.
    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
    A genome-wide association study identifies a locus on chromosome 14q21 as a predictor of leukocyte telomere length and as a marker of susceptibility for bladder cancer.
    EBI GWAS Catalog
    Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.
    EBI GWAS Catalog
    Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.
    EBI GWAS Catalog
    Genome-wide association studies and heritability estimates of body mass index related phenotypes in bangladeshi adults.
    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)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin protein ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ubiquitin-ubiquitin ligase activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within positive regulation of MAPK cascade IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of canonical NF-kappaB signal transduction TAS
    Traceable Author Statement
    more info
    		  
    acts_upstream_of_or_within positive regulation of protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein polyubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of Toll signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    E3 ubiquitin-protein ligase pellino homolog 2
    Names
    RING-type E3 ubiquitin transferase pellino homolog 2
    pellino homolog 2
    pellino-2
    protein pellino homolog 2
    NP_067078.1
    XP_005267947.1
    XP_006720274.1
    XP_011535292.1
    XP_011535294.1
    XP_016876967.1
    XP_016876968.1
    XP_047287568.1
    XP_054232413.1
    XP_054232414.1
    XP_054232415.1
    XP_054232416.1
    XP_054232417.1

    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_021255.3 → NP_067078.1  E3 ubiquitin-protein ligase pellino homolog 2

      See identical proteins and their annotated locations for NP_067078.1

      Status: VALIDATED

      Source sequence(s)
      AF302502, AK025208, AL355073, AL709755, BC009476
      Consensus CDS
      CCDS9726.1
      UniProtKB/Swiss-Prot
      B2RDY5, Q9HAT8
      UniProtKB/TrEMBL
      A0A994J4T1
      Related
      ENSP00000267460.4, ENST00000267460.9
      Conserved Domains (1) summary
      pfam04710
      Location:12 → 420
      Pellino

    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
      56118411..56301524
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011536990.3 → XP_011535292.1  E3 ubiquitin-protein ligase pellino homolog 2 isoform X2

      See identical proteins and their annotated locations for XP_011535292.1

      Conserved Domains (1) summary
      pfam04710
      Location:1 → 320
      Pellino

    2. XM_005267890.6 → XP_005267947.1  E3 ubiquitin-protein ligase pellino homolog 2 isoform X3

      Conserved Domains (1) summary
      pfam04710
      Location:12 → 232
      Pellino; Pellino

    3. XM_011536992.4 → XP_011535294.1  E3 ubiquitin-protein ligase pellino homolog 2 isoform X2

      See identical proteins and their annotated locations for XP_011535294.1

      Conserved Domains (1) summary
      pfam04710
      Location:1 → 320
      Pellino

    4. XM_017021479.2 → XP_016876968.1  E3 ubiquitin-protein ligase pellino homolog 2 isoform X2

      Conserved Domains (1) summary
      pfam04710
      Location:1 → 320
      Pellino

    5. XM_017021478.2 → XP_016876967.1  E3 ubiquitin-protein ligase pellino homolog 2 isoform X1

      UniProtKB/TrEMBL
      A0A994J4T1
      Conserved Domains (1) summary
      pfam04710
      Location:10 → 407
      Pellino; Pellino

    6. XM_047431612.1 → XP_047287568.1  E3 ubiquitin-protein ligase pellino homolog 2 isoform X2

    7. XM_006720211.4 → XP_006720274.1  E3 ubiquitin-protein ligase pellino homolog 2 isoform X2

      See identical proteins and their annotated locations for XP_006720274.1

      Conserved Domains (1) summary
      pfam04710
      Location:1 → 320
      Pellino

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      50324186..50507449
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054376439.1 → XP_054232414.1  E3 ubiquitin-protein ligase pellino homolog 2 isoform X2

    2. XM_054376442.1 → XP_054232417.1  E3 ubiquitin-protein ligase pellino homolog 2 isoform X3

    3. XM_054376440.1 → XP_054232415.1  E3 ubiquitin-protein ligase pellino homolog 2 isoform X2

    4. XM_054376438.1 → XP_054232413.1  E3 ubiquitin-protein ligase pellino homolog 2 isoform X1

    5. XM_054376441.1 → XP_054232416.1  E3 ubiquitin-protein ligase pellino homolog 2 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9HAT8.1 GenPept UniProtKB/Swiss-Prot:Q9HAT8

    Gene LinkOut

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

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