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    URB2 URB2 ribosome biogenesis homolog [ Homo sapiens (human) ]

    Gene ID: 9816, updated on 3-Nov-2024

    Summary

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    Official Symbol
    URB2provided by HGNC
    Official Full Name
    URB2 ribosome biogenesis homologprovided by HGNC
    Primary source
    HGNC:HGNC:28967
    See related
    Ensembl:ENSG00000135763 MIM:619372; AllianceGenome:HGNC:28967
    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
    NPA2; NET10; KIAA0133
    Summary
    Predicted to be involved in regulation of signal transduction by p53 class mediator and ribosome biogenesis. Located in aggresome; midbody; and nucleolus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 4.6), lymph node (RPKM 2.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See URB2 in Genome Data Viewer
    Location:
    1q42.13
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (229626247..229660200)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (229005197..229039181)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (229761994..229795947)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 19 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:229730263-229730763 Neighboring gene TATA-box binding protein associated factor 5 like Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:229759383-229759933 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2705 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1934 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1935 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2706 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:229771551-229772052 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:229772053-229772552 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2707 Neighboring gene KIAA1191 pseudogene 3 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:229830659-229831160 Neighboring gene high mobility group box 1 pseudogene 26

    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 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. Lco1 is a novel widely expressed lamin-binding protein in the nuclear interior. Vlcek S, et al. Exp Cell Res, 2004 Aug 15. PMID 15265697
    2. From midbody protein-protein interaction network construction to novel regulators in cytokinesis. Chen TC, et al. J Proteome Res, 2009 Nov. PMID 19799413
    3. Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia. Reiner AP, et al. Hum Mol Genet, 2013 Aug 15. PMID 23620142, Free PMC Article
    4. Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines. Li L, et al. BMC Genomics, 2014 Feb 1. PMID 24483146, Free PMC Article
    5. Prediction of the coding sequences of unidentified human genes. IV. The coding sequences of 40 new genes (KIAA0121-KIAA0160) deduced by analysis of cDNA clones from human cell line KG-1. Nagase T, et al. DNA Res, 1995 Aug 31. PMID 8590280

    See all (53) citations in PubMed

    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

    EBI GWAS Catalog

    Description
    Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.
    EBI GWAS Catalog
    Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia.
    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0133, MGC138837, MGC138838

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in regulation of signal transduction by p53 class mediator ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in ribosome biogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in aggresome IDA
    Inferred from Direct Assay
    more info
    		  
    located_in midbody IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in nucleolus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    unhealthy ribosome biogenesis protein 2 homolog
    Names
    URB2 ribosome biogenesis 2 homolog
    nucleolar preribosomal-associated protein 1
    nucleolar preribosomal-associated protein 2

    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.

    Genomic

    1. NG_050743.1 RefSeqGene

      Range
      5043..38996
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001314021.2 → NP_001300950.1  unhealthy ribosome biogenesis protein 2 homolog

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AW611528, BC114559, DC369323
      Consensus CDS
      CCDS31052.1
      UniProtKB/Swiss-Prot
      Q14146, Q5VYC9
      UniProtKB/TrEMBL
      A8K4P8
      Conserved Domains (1) summary
      pfam10441
      Location:1322 → 1516
      Urb2; Urb2/Npa2 family

    2. NM_014777.4 → NP_055592.2  unhealthy ribosome biogenesis protein 2 homolog

      See identical proteins and their annotated locations for NP_055592.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AW611528, D50923
      Consensus CDS
      CCDS31052.1
      UniProtKB/Swiss-Prot
      Q14146, Q5VYC9
      UniProtKB/TrEMBL
      A8K4P8
      Related
      ENSP00000258243.2, ENST00000258243.7
      Conserved Domains (1) summary
      pfam10441
      Location:1322 → 1516
      Urb2; Urb2/Npa2 family

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      229626247..229660200
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005273360.3 → XP_005273417.1  unhealthy ribosome biogenesis protein 2 homolog isoform X1

      UniProtKB/TrEMBL
      A8K4P8
      Conserved Domains (1) summary
      pfam10441
      Location:1285 → 1478
      Urb2; Urb2/Npa2 family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      229005197..229039181
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054339779.1 → XP_054195754.1  unhealthy ribosome biogenesis protein 2 homolog isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14146.2 GenPept UniProtKB/Swiss-Prot:Q14146

    Gene LinkOut

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

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