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

Gene ID: 9816, updated on 27-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
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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
  • 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)

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

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