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

    Gene ID: 57161, updated on 3-Dec-2024

    Summary

    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
    NEW
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    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
     

    General protein information

    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)

    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_021255.3NP_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:12420
      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_011536990.3XP_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:1320
      Pellino
    2. XM_005267890.6XP_005267947.1  E3 ubiquitin-protein ligase pellino homolog 2 isoform X3

      Conserved Domains (1) summary
      pfam04710
      Location:12232
      Pellino; Pellino
    3. XM_011536992.4XP_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:1320
      Pellino
    4. XM_017021479.2XP_016876968.1  E3 ubiquitin-protein ligase pellino homolog 2 isoform X2

      Conserved Domains (1) summary
      pfam04710
      Location:1320
      Pellino
    5. XM_017021478.2XP_016876967.1  E3 ubiquitin-protein ligase pellino homolog 2 isoform X1

      UniProtKB/TrEMBL
      A0A994J4T1
      Conserved Domains (1) summary
      pfam04710
      Location:10407
      Pellino; Pellino
    6. XM_047431612.1XP_047287568.1  E3 ubiquitin-protein ligase pellino homolog 2 isoform X2

    7. XM_006720211.4XP_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:1320
      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_054376439.1XP_054232414.1  E3 ubiquitin-protein ligase pellino homolog 2 isoform X2

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

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

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

      UniProtKB/TrEMBL
      A0A994J4T1
    5. XM_054376441.1XP_054232416.1  E3 ubiquitin-protein ligase pellino homolog 2 isoform X2