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    HERC2P3 HERC2 pseudogene 3 [ Homo sapiens (human) ]

    Gene ID: 283755, updated on 23-Nov-2023

    Summary

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    Official Symbol
    HERC2P3provided by HGNC
    Official Full Name
    HERC2 pseudogene 3provided by HGNC
    Primary source
    HGNC:HGNC:4871
    See related
    Ensembl:ENSG00000290376 AllianceGenome:HGNC:4871
    Gene type
    pseudo
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    D15F37S4
    Summary
    Predicted to enable metal ion binding activity and ubiquitin-protein transferase activity. Predicted to be involved in protein ubiquitination. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in brain (RPKM 21.2), urinary bladder (RPKM 17.1) and 25 other tissues See more
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    Genomic context

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    Location:
    15q11.1-q11.2
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (20408396..20506180, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (18320251..18417997, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (20613649..20711433, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:20500417-20500916 Neighboring gene uncharacterized LOC124903442 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:20507209-20507708 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:20509508-20510385 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:20510874-20511842 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:20511843-20512809 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:20545365-20545888 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:20545889-20546410 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:20546411-20546934 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:20546935-20547456 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:20547457-20547980 Neighboring gene uncharacterized LOC124903613 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:20707920-20708594 Neighboring gene E3 ubiquitin-protein ligase HERC2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:20736451-20736951 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:20738609-20739110 Neighboring gene golgin A6 family like 6

    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. A putative gene family in 15q11-13 and 16p11.2: possible implications for Prader-Willi and Angelman syndromes. Buiting K, et al. Proc Natl Acad Sci U S A, 1992 Jun 15. PMID 1608955, Free PMC Article
    2. Expressed copies of the MN7 (D15F37) gene family map close to the common deletion breakpoints in the Prader-Willi/Angelman syndromes. Buiting K, et al. Cytogenet Cell Genet, 1998. PMID 9730612
    3. The ancestral gene for transcribed, low-copy repeats in the Prader-Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalities. Ji Y, et al. Hum Mol Genet, 1999 Mar. PMID 9949213
    4. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. Brandenberger R, et al. Nat Biotechnol, 2004 Jun. PMID 15146197
    5. Histone deacetylase inhibitors inhibit cervical cancer growth through Parkin acetylation-mediated mitophagy. Sun X, et al. Acta Pharm Sin B, 2022 Feb. PMID 35256949, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    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

    Other Names

    • hect domain and RLD 2 pseudogene 3

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ubiquitin protein ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in protein ubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    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.

    RNA

    1. NR_036432.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC026495, AC138748, BC094757
      Related
      ENST00000430598.5

    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
      20408396..20506180 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_021160017.1 Reference GRCh38.p14 PATCHES

      Range
      650178..747905 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      18320251..18417997 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NG_008269.2: Suppressed sequence

      Description
      NG_008269.2: This RefSeq was permanently suppressed because it is now thought that this pseudogene is transcribed.

    2. NG_025280.1: Suppressed sequence

      Description
      NG_025280.1: This RefSeq was permanently suppressed because it is now thought that this pseudogene is transcribed.

    3. NM_001024682.1: Suppressed sequence

      Description
      NM_001024682.1: This RefSeq was permanently suppressed because it is now thought that this gene is a pseudogene.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BVR0.2 GenPept UniProtKB/Swiss-Prot:Q9BVR0

    Gene LinkOut

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

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