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

Gene ID: 57161, updated on 3-Apr-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 membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

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Location:
14q22.3
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (56118411..56301524)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (50324186..50507449)
105.20220307 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. 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
  3. Pellino proteins contain a cryptic FHA domain that mediates interaction with phosphorylated IRAK1. Lin CC, et al. Structure, 2008 Dec 10. PMID 19081057, Free PMC Article
  4. Pellino proteins are more than scaffold proteins in TLR/IL-1R signalling: a role as novel RING E3-ubiquitin-ligases. Schauvliege R, et al. FEBS Lett, 2006 Aug 21. PMID 16884718
  5. Characterization of Pellino2, a substrate of IRAK1 and IRAK4. Strelow A, et al. FEBS Lett, 2003 Jul 17. PMID 12860405

See all (30) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. Pellino-2 in nonimmune cells: novel interaction partners and intracellular localization.
    Title: Pellino-2 in nonimmune cells: novel interaction partners and intracellular localization.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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)

Genotypes

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_2023_10

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

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